NCPI FHIR Implementation Guide
0.2.0 - ci-build
NCPI FHIR Implementation Guide - Local Development build (v0.2.0). See the Directory of published versions
| Official URL: https://nih-ncpi.github.io/ncpi-fhir-ig/ValueSet/phenotype-codes | Version: 0.2.0 | |||
| Draft as of 2022-12-09 | Computable Name: PhenotypeCodes | |||
This value set includes all codes from Human Phenotype Ontology.
References
http://purl.obolibrary.org/obo/hp.owl
This value set contains 1880 concepts
Expansion based on code system fragment Human Phenotype Ontology v0.2.0 (CodeSystem)
Expansion based on Human Phenotype Ontology v0.2.0 (CodeSystem)
| Code | System | Display |
| HP:0000365 | http://purl.obolibrary.org/obo/hp.owl | Hearing impairment |
| HP:0002564 | http://purl.obolibrary.org/obo/hp.owl | obsolete Malformation of the heart and great vessels |
| HP:0001028 | http://purl.obolibrary.org/obo/hp.owl | Hemangioma |
| HP:0000476 | http://purl.obolibrary.org/obo/hp.owl | Cystic hygroma |
| HP:0000568 | http://purl.obolibrary.org/obo/hp.owl | Microphthalmia |
| HP:0000518 | http://purl.obolibrary.org/obo/hp.owl | Cataract |
| HP:0000612 | http://purl.obolibrary.org/obo/hp.owl | Iris coloboma |
| HP:0000567 | http://purl.obolibrary.org/obo/hp.owl | Chorioretinal coloboma |
| HP:0000316 | http://purl.obolibrary.org/obo/hp.owl | Hypertelorism |
| HP:0000482 | http://purl.obolibrary.org/obo/hp.owl | Microcornea |
| HP:0000588 | http://purl.obolibrary.org/obo/hp.owl | Optic nerve coloboma |
| HP:0004426 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the cheek |
| HP:0009125 | http://purl.obolibrary.org/obo/hp.owl | Lipodystrophy |
| HP:0002023 | http://purl.obolibrary.org/obo/hp.owl | Anal atresia |
| HP:0003468 | http://purl.obolibrary.org/obo/hp.owl | Abnormal vertebral morphology |
| HP:0000545 | http://purl.obolibrary.org/obo/hp.owl | Myopia |
| HP:0000122 | http://purl.obolibrary.org/obo/hp.owl | Unilateral renal agenesis |
| HP:0002143 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the spinal cord |
| HP:0003508 | http://purl.obolibrary.org/obo/hp.owl | Proportionate short stature |
| HP:0000271 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the face |
| HP:0000637 | http://purl.obolibrary.org/obo/hp.owl | Long palpebral fissure |
| HP:0000492 | http://purl.obolibrary.org/obo/hp.owl | Abnormal eyelid morphology |
| HP:0000389 | http://purl.obolibrary.org/obo/hp.owl | Chronic otitis media |
| HP:0000400 | http://purl.obolibrary.org/obo/hp.owl | Macrotia |
| HP:0000405 | http://purl.obolibrary.org/obo/hp.owl | Conductive hearing impairment |
| HP:0012712 | http://purl.obolibrary.org/obo/hp.owl | Mild hearing impairment |
| HP:0005280 | http://purl.obolibrary.org/obo/hp.owl | Depressed nasal bridge |
| HP:0000431 | http://purl.obolibrary.org/obo/hp.owl | Wide nasal bridge |
| HP:0000319 | http://purl.obolibrary.org/obo/hp.owl | Smooth philtrum |
| HP:0000175 | http://purl.obolibrary.org/obo/hp.owl | Cleft palate |
| HP:0001611 | http://purl.obolibrary.org/obo/hp.owl | Nasal speech |
| HP:0002099 | http://purl.obolibrary.org/obo/hp.owl | Asthma |
| HP:0001397 | http://purl.obolibrary.org/obo/hp.owl | Hepatic steatosis |
| HP:0001081 | http://purl.obolibrary.org/obo/hp.owl | Cholelithiasis |
| HP:0002650 | http://purl.obolibrary.org/obo/hp.owl | Scoliosis |
| HP:0001212 | http://purl.obolibrary.org/obo/hp.owl | Prominent fingertip pads |
| HP:0001328 | http://purl.obolibrary.org/obo/hp.owl | Specific learning disability |
| HP:0000824 | http://purl.obolibrary.org/obo/hp.owl | Growth hormone deficiency |
| HP:0002607 | http://purl.obolibrary.org/obo/hp.owl | Bowel incontinence |
| HP:0100731 | http://purl.obolibrary.org/obo/hp.owl | Transverse facial cleft |
| HP:0000528 | http://purl.obolibrary.org/obo/hp.owl | Anophthalmia |
| HP:0000601 | http://purl.obolibrary.org/obo/hp.owl | Hypotelorism |
| HP:0000369 | http://purl.obolibrary.org/obo/hp.owl | Low-set ears |
| HP:0001274 | http://purl.obolibrary.org/obo/hp.owl | Agenesis of corpus callosum |
| HP:0002084 | http://purl.obolibrary.org/obo/hp.owl | Encephalocele |
| HP:0007033 | http://purl.obolibrary.org/obo/hp.owl | Cerebellar dysplasia |
| HP:0100336 | http://purl.obolibrary.org/obo/hp.owl | Bilateral cleft lip |
| HP:0100337 | http://purl.obolibrary.org/obo/hp.owl | Bilateral cleft palate |
| HP:0001511 | http://purl.obolibrary.org/obo/hp.owl | Intrauterine growth retardation |
| HP:0011451 | http://purl.obolibrary.org/obo/hp.owl | Congenital microcephaly |
| HP:0000324 | http://purl.obolibrary.org/obo/hp.owl | Facial asymmetry |
| HP:0000581 | http://purl.obolibrary.org/obo/hp.owl | Blepharophimosis |
| HP:0000508 | http://purl.obolibrary.org/obo/hp.owl | Ptosis |
| HP:0008551 | http://purl.obolibrary.org/obo/hp.owl | Microtia |
| HP:0001631 | http://purl.obolibrary.org/obo/hp.owl | Atrial septal defect |
| HP:0000085 | http://purl.obolibrary.org/obo/hp.owl | Horseshoe kidney |
| HP:0011927 | http://purl.obolibrary.org/obo/hp.owl | Short digit |
| HP:0001156 | http://purl.obolibrary.org/obo/hp.owl | Brachydactyly |
| HP:0002066 | http://purl.obolibrary.org/obo/hp.owl | Gait ataxia |
| HP:0001250 | http://purl.obolibrary.org/obo/hp.owl | Seizure |
| HP:0001263 | http://purl.obolibrary.org/obo/hp.owl | Global developmental delay |
| HP:0001562 | http://purl.obolibrary.org/obo/hp.owl | Oligohydramnios |
| HP:0001195 | http://purl.obolibrary.org/obo/hp.owl | Single umbilical artery |
| HP:0006349 | http://purl.obolibrary.org/obo/hp.owl | Agenesis of permanent teeth |
| HP:0000668 | http://purl.obolibrary.org/obo/hp.owl | Hypodontia |
| HP:0000677 | http://purl.obolibrary.org/obo/hp.owl | Oligodontia |
| HP:0001252 | http://purl.obolibrary.org/obo/hp.owl | Muscular hypotonia |
| HP:0003429 | http://purl.obolibrary.org/obo/hp.owl | CNS hypomyelination |
| HP:0010864 | http://purl.obolibrary.org/obo/hp.owl | Intellectual disability, severe |
| HP:0004325 | http://purl.obolibrary.org/obo/hp.owl | Decreased body weight |
| HP:0000666 | http://purl.obolibrary.org/obo/hp.owl | Horizontal nystagmus |
| HP:0000218 | http://purl.obolibrary.org/obo/hp.owl | High palate |
| HP:0010809 | http://purl.obolibrary.org/obo/hp.owl | Broad uvula |
| HP:0000767 | http://purl.obolibrary.org/obo/hp.owl | Pectus excavatum |
| HP:0003691 | http://purl.obolibrary.org/obo/hp.owl | Scapular winging |
| HP:0002616 | http://purl.obolibrary.org/obo/hp.owl | Aortic root aneurysm |
| HP:0001601 | http://purl.obolibrary.org/obo/hp.owl | Laryngomalacia |
| HP:0002021 | http://purl.obolibrary.org/obo/hp.owl | Pyloric stenosis |
| HP:0001388 | http://purl.obolibrary.org/obo/hp.owl | Joint laxity |
| HP:0001187 | http://purl.obolibrary.org/obo/hp.owl | Hyperextensibility of the finger joints |
| HP:0000741 | http://purl.obolibrary.org/obo/hp.owl | Apathy |
| HP:0000817 | http://purl.obolibrary.org/obo/hp.owl | Poor eye contact |
| HP:0000821 | http://purl.obolibrary.org/obo/hp.owl | Hypothyroidism |
| HP:0000002 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of body height |
| HP:0000079 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the urinary system |
| HP:0000164 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the dentition |
| HP:0000364 | http://purl.obolibrary.org/obo/hp.owl | Hearing abnormality |
| HP:0000366 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the nose |
| HP:0000464 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the neck |
| HP:0000707 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the nervous system |
| HP:0000708 | http://purl.obolibrary.org/obo/hp.owl | Behavioral abnormality |
| HP:0000769 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the breast |
| HP:0000772 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the ribs |
| HP:0000775 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the diaphragm |
| HP:0000889 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the clavicle |
| HP:0000925 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the vertebral column |
| HP:0001080 | http://purl.obolibrary.org/obo/hp.owl | Biliary tract abnormality |
| HP:0001392 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the liver |
| HP:0001438 | http://purl.obolibrary.org/obo/hp.owl | Abnormal abdomen morphology |
| HP:0001608 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the voice |
| HP:0001627 | http://purl.obolibrary.org/obo/hp.owl | Abnormal heart morphology |
| HP:0001732 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the pancreas |
| HP:0001739 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the nasopharynx |
| HP:0001743 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the spleen |
| HP:0001760 | http://purl.obolibrary.org/obo/hp.owl | Abnormal foot morphology |
| HP:0001871 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of blood and blood-forming tissues |
| HP:0002031 | http://purl.obolibrary.org/obo/hp.owl | Abnormal esophagus morphology |
| HP:0002244 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the small intestine |
| HP:0002246 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the duodenum |
| HP:0002250 | http://purl.obolibrary.org/obo/hp.owl | Abnormal large intestine morphology |
| HP:0002644 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of pelvic girdle bone morphology |
| HP:0002664 | http://purl.obolibrary.org/obo/hp.owl | Neoplasm |
| HP:0002715 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the immune system |
| HP:0002814 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the lower limb |
| HP:0002817 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the upper limb |
| HP:0005483 | http://purl.obolibrary.org/obo/hp.owl | Abnormal epiglottis morphology |
| HP:0008777 | http://purl.obolibrary.org/obo/hp.owl | Abnormal vocal cord morphology |
| HP:0011844 | http://purl.obolibrary.org/obo/hp.owl | Abnormal appendicular skeleton morphology |
| HP:0012732 | http://purl.obolibrary.org/obo/hp.owl | Anorectal anomaly |
| HP:0001508 | http://purl.obolibrary.org/obo/hp.owl | Failure to thrive |
| HP:0002902 | http://purl.obolibrary.org/obo/hp.owl | Hyponatremia |
| HP:0012236 | http://purl.obolibrary.org/obo/hp.owl | Elevated sweat chloride |
| HP:0000347 | http://purl.obolibrary.org/obo/hp.owl | Micrognathia |
| HP:0000926 | http://purl.obolibrary.org/obo/hp.owl | Platyspondyly |
| HP:0001371 | http://purl.obolibrary.org/obo/hp.owl | Flexion contracture |
| HP:0001875 | http://purl.obolibrary.org/obo/hp.owl | Neutropenia |
| HP:0001888 | http://purl.obolibrary.org/obo/hp.owl | Lymphopenia |
| HP:0002857 | http://purl.obolibrary.org/obo/hp.owl | Genu valgum |
| HP:0002986 | http://purl.obolibrary.org/obo/hp.owl | Radial bowing |
| HP:0003015 | http://purl.obolibrary.org/obo/hp.owl | Flared metaphysis |
| HP:0003025 | http://purl.obolibrary.org/obo/hp.owl | Metaphyseal irregularity |
| HP:0003097 | http://purl.obolibrary.org/obo/hp.owl | Short femur |
| HP:0003300 | http://purl.obolibrary.org/obo/hp.owl | Ovoid vertebral bodies |
| HP:0003307 | http://purl.obolibrary.org/obo/hp.owl | Hyperlordosis |
| HP:0004209 | http://purl.obolibrary.org/obo/hp.owl | Clinodactyly of the 5th finger |
| HP:0004322 | http://purl.obolibrary.org/obo/hp.owl | Short stature |
| HP:0005792 | http://purl.obolibrary.org/obo/hp.owl | Short humerus |
| HP:0006248 | http://purl.obolibrary.org/obo/hp.owl | Limited wrist movement |
| HP:0000944 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the metaphysis |
| HP:0011921 | http://purl.obolibrary.org/obo/hp.owl | Exudative pleural effusion |
| HP:0003043 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the shoulder |
| HP:0000290 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the forehead |
| HP:0005288 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the nares |
| HP:0000234 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the head |
| HP:0004323 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of body weight |
| HP:0000483 | http://purl.obolibrary.org/obo/hp.owl | Astigmatism |
| HP:0011003 | http://purl.obolibrary.org/obo/hp.owl | High myopia |
| HP:0000470 | http://purl.obolibrary.org/obo/hp.owl | Short neck |
| HP:0030044 | http://purl.obolibrary.org/obo/hp.owl | Flexion contracture of digit |
| HP:0100871 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the palm |
| HP:0004334 | http://purl.obolibrary.org/obo/hp.owl | Dermal atrophy |
| HP:0001845 | http://purl.obolibrary.org/obo/hp.owl | Overlapping toe |
| HP:0000496 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of eye movement |
| HP:0001780 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of toe |
| HP:0001626 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the cardiovascular system |
| HP:0002086 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the respiratory system |
| HP:0000818 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the endocrine system |
| HP:0012372 | http://purl.obolibrary.org/obo/hp.owl | Abnormal eye morphology |
| HP:0009473 | http://purl.obolibrary.org/obo/hp.owl | Joint contracture of the hand |
| HP:0003199 | http://purl.obolibrary.org/obo/hp.owl | Decreased muscle mass |
| HP:0003202 | http://purl.obolibrary.org/obo/hp.owl | Skeletal muscle atrophy |
| HP:0003551 | http://purl.obolibrary.org/obo/hp.owl | Difficulty climbing stairs |
| HP:0002355 | http://purl.obolibrary.org/obo/hp.owl | Difficulty walking |
| HP:0003546 | http://purl.obolibrary.org/obo/hp.owl | Exercise intolerance |
| HP:0003325 | http://purl.obolibrary.org/obo/hp.owl | Limb-girdle muscle weakness |
| HP:0003701 | http://purl.obolibrary.org/obo/hp.owl | Proximal muscle weakness |
| HP:0003547 | http://purl.obolibrary.org/obo/hp.owl | Shoulder girdle muscle weakness |
| HP:0007340 | http://purl.obolibrary.org/obo/hp.owl | Lower limb muscle weakness |
| HP:0002168 | http://purl.obolibrary.org/obo/hp.owl | Scanning speech |
| HP:0001265 | http://purl.obolibrary.org/obo/hp.owl | Hyporeflexia |
| HP:0001284 | http://purl.obolibrary.org/obo/hp.owl | Areflexia |
| HP:0003477 | http://purl.obolibrary.org/obo/hp.owl | Peripheral axonal neuropathy |
| HP:0000924 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the skeletal system |
| HP:0001291 | http://purl.obolibrary.org/obo/hp.owl | Abnormal cranial nerve morphology |
| HP:0003687 | http://purl.obolibrary.org/obo/hp.owl | Centrally nucleated skeletal muscle fibers |
| HP:0001324 | http://purl.obolibrary.org/obo/hp.owl | Muscle weakness |
| HP:0002515 | http://purl.obolibrary.org/obo/hp.owl | Waddling gait |
| HP:0100280 | http://purl.obolibrary.org/obo/hp.owl | Crohn's disease |
| HP:0002631 | http://purl.obolibrary.org/obo/hp.owl | obsolete Dilatation of ascending aorta |
| HP:0100026 | http://purl.obolibrary.org/obo/hp.owl | Arteriovenous malformation |
| HP:0002637 | http://purl.obolibrary.org/obo/hp.owl | Cerebral ischemia |
| HP:0002619 | http://purl.obolibrary.org/obo/hp.owl | Varicose veins |
| HP:0001159 | http://purl.obolibrary.org/obo/hp.owl | Syndactyly |
| HP:0002069 | http://purl.obolibrary.org/obo/hp.owl | Bilateral tonic-clonic seizure |
| HP:0000977 | http://purl.obolibrary.org/obo/hp.owl | Soft skin |
| HP:0010648 | http://purl.obolibrary.org/obo/hp.owl | Dermal translucency |
| HP:0000978 | http://purl.obolibrary.org/obo/hp.owl | Bruising susceptibility |
| HP:0001956 | http://purl.obolibrary.org/obo/hp.owl | Truncal obesity |
| HP:0000189 | http://purl.obolibrary.org/obo/hp.owl | Narrow palate |
| HP:0000678 | http://purl.obolibrary.org/obo/hp.owl | Dental crowding |
| HP:0002870 | http://purl.obolibrary.org/obo/hp.owl | Obstructive sleep apnea |
| HP:0001763 | http://purl.obolibrary.org/obo/hp.owl | Pes planus |
| HP:0000782 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the scapula |
| HP:0001600 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the larynx |
| HP:0002088 | http://purl.obolibrary.org/obo/hp.owl | Abnormal lung morphology |
| HP:0011407 | http://purl.obolibrary.org/obo/hp.owl | Proportionate tall stature |
| HP:0000541 | http://purl.obolibrary.org/obo/hp.owl | Retinal detachment |
| HP:0001373 | http://purl.obolibrary.org/obo/hp.owl | Joint dislocation |
| HP:0000938 | http://purl.obolibrary.org/obo/hp.owl | Osteopenia |
| HP:0002942 | http://purl.obolibrary.org/obo/hp.owl | Thoracic kyphosis |
| HP:0001840 | http://purl.obolibrary.org/obo/hp.owl | Metatarsus adductus |
| HP:0001844 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the hallux |
| HP:0001765 | http://purl.obolibrary.org/obo/hp.owl | Hammertoe |
| HP:0000606 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the periorbital region |
| HP:0002757 | http://purl.obolibrary.org/obo/hp.owl | Recurrent fractures |
| HP:0000647 | http://purl.obolibrary.org/obo/hp.owl | Sclerocornea |
| HP:0001166 | http://purl.obolibrary.org/obo/hp.owl | Arachnodactyly |
| HP:0005490 | http://purl.obolibrary.org/obo/hp.owl | Postnatal macrocephaly |
| HP:0011363 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of hair growth rate |
| HP:0000276 | http://purl.obolibrary.org/obo/hp.owl | Long face |
| HP:0000275 | http://purl.obolibrary.org/obo/hp.owl | Narrow face |
| HP:0000337 | http://purl.obolibrary.org/obo/hp.owl | Broad forehead |
| HP:0002267 | http://purl.obolibrary.org/obo/hp.owl | Exaggerated startle response |
| HP:0002187 | http://purl.obolibrary.org/obo/hp.owl | Intellectual disability, profound |
| HP:0000728 | http://purl.obolibrary.org/obo/hp.owl | Impaired ability to form peer relationships |
| HP:0000733 | http://purl.obolibrary.org/obo/hp.owl | Stereotypy |
| HP:0000739 | http://purl.obolibrary.org/obo/hp.owl | Anxiety |
| HP:0000929 | http://purl.obolibrary.org/obo/hp.owl | Abnormal skull morphology |
| HP:0001965 | http://purl.obolibrary.org/obo/hp.owl | Abnormal scalp morphology |
| HP:0100538 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the supraorbital ridges |
| HP:0000309 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the midface |
| HP:0000277 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the mandible |
| HP:0000765 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the thorax |
| HP:0100008 | http://purl.obolibrary.org/obo/hp.owl | Schwannoma |
| HP:0030038 | http://purl.obolibrary.org/obo/hp.owl | Enchondroma |
| HP:0100777 | http://purl.obolibrary.org/obo/hp.owl | Exostoses |
| HP:0011663 | http://purl.obolibrary.org/obo/hp.owl | Right ventricular cardiomyopathy |
| HP:0011675 | http://purl.obolibrary.org/obo/hp.owl | Arrhythmia |
| HP:0001962 | http://purl.obolibrary.org/obo/hp.owl | Palpitations |
| HP:0001279 | http://purl.obolibrary.org/obo/hp.owl | Syncope |
| HP:0004756 | http://purl.obolibrary.org/obo/hp.owl | Ventricular tachycardia |
| HP:0000252 | http://purl.obolibrary.org/obo/hp.owl | Microcephaly |
| HP:0000303 | http://purl.obolibrary.org/obo/hp.owl | Mandibular prognathia |
| HP:0000664 | http://purl.obolibrary.org/obo/hp.owl | Synophrys |
| HP:0001609 | http://purl.obolibrary.org/obo/hp.owl | Hoarse voice |
| HP:0002558 | http://purl.obolibrary.org/obo/hp.owl | Supernumerary nipple |
| HP:0001634 | http://purl.obolibrary.org/obo/hp.owl | Mitral valve prolapse |
| HP:0000028 | http://purl.obolibrary.org/obo/hp.owl | Cryptorchidism |
| HP:0000973 | http://purl.obolibrary.org/obo/hp.owl | Cutis laxa |
| HP:0001518 | http://purl.obolibrary.org/obo/hp.owl | Small for gestational age |
| HP:0000527 | http://purl.obolibrary.org/obo/hp.owl | Long eyelashes |
| HP:0002808 | http://purl.obolibrary.org/obo/hp.owl | Kyphosis |
| HP:0000248 | http://purl.obolibrary.org/obo/hp.owl | Brachycephaly |
| HP:0000505 | http://purl.obolibrary.org/obo/hp.owl | Visual impairment |
| HP:0000512 | http://purl.obolibrary.org/obo/hp.owl | Abnormal electroretinogram |
| HP:0000517 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the lens |
| HP:0000529 | http://purl.obolibrary.org/obo/hp.owl | Progressive visual loss |
| HP:0000586 | http://purl.obolibrary.org/obo/hp.owl | Shallow orbits |
| HP:0000603 | http://purl.obolibrary.org/obo/hp.owl | Central scotoma |
| HP:0000939 | http://purl.obolibrary.org/obo/hp.owl | Osteoporosis |
| HP:0001377 | http://purl.obolibrary.org/obo/hp.owl | Limited elbow extension |
| HP:0001387 | http://purl.obolibrary.org/obo/hp.owl | Joint stiffness |
| HP:0001822 | http://purl.obolibrary.org/obo/hp.owl | Hallux valgus |
| HP:0002657 | http://purl.obolibrary.org/obo/hp.owl | Spondylometaphyseal dysplasia |
| HP:0003026 | http://purl.obolibrary.org/obo/hp.owl | Short long bone |
| HP:0006462 | http://purl.obolibrary.org/obo/hp.owl | Generalized bone demineralization |
| HP:0008873 | http://purl.obolibrary.org/obo/hp.owl | Disproportionate short-limb short stature |
| HP:0008905 | http://purl.obolibrary.org/obo/hp.owl | Rhizomelia |
| HP:0008922 | http://purl.obolibrary.org/obo/hp.owl | Childhood-onset short-trunk short stature |
| HP:0200020 | http://purl.obolibrary.org/obo/hp.owl | Corneal erosion |
| HP:0001172 | http://purl.obolibrary.org/obo/hp.owl | Abnormal thumb morphology |
| HP:0002286 | http://purl.obolibrary.org/obo/hp.owl | Fair hair |
| HP:0010719 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of hair texture |
| HP:0010720 | http://purl.obolibrary.org/obo/hp.owl | Abnormal hair pattern |
| HP:0001635 | http://purl.obolibrary.org/obo/hp.owl | Congestive heart failure |
| HP:0001644 | http://purl.obolibrary.org/obo/hp.owl | Dilated cardiomyopathy |
| HP:0001663 | http://purl.obolibrary.org/obo/hp.owl | Ventricular fibrillation |
| HP:0011712 | http://purl.obolibrary.org/obo/hp.owl | Right bundle branch block |
| HP:0000272 | http://purl.obolibrary.org/obo/hp.owl | Malar flattening |
| HP:0000286 | http://purl.obolibrary.org/obo/hp.owl | Epicanthus |
| HP:0000322 | http://purl.obolibrary.org/obo/hp.owl | Short philtrum |
| HP:0000463 | http://purl.obolibrary.org/obo/hp.owl | Anteverted nares |
| HP:0000494 | http://purl.obolibrary.org/obo/hp.owl | Downslanted palpebral fissures |
| HP:0000543 | http://purl.obolibrary.org/obo/hp.owl | Optic disc pallor |
| HP:0000699 | http://purl.obolibrary.org/obo/hp.owl | Diastema |
| HP:0000773 | http://purl.obolibrary.org/obo/hp.owl | Short ribs |
| HP:0000887 | http://purl.obolibrary.org/obo/hp.owl | Cupped ribs |
| HP:0000946 | http://purl.obolibrary.org/obo/hp.owl | Hypoplastic ilia |
| HP:0000954 | http://purl.obolibrary.org/obo/hp.owl | Single transverse palmar crease |
| HP:0001182 | http://purl.obolibrary.org/obo/hp.owl | Tapered finger |
| HP:0001537 | http://purl.obolibrary.org/obo/hp.owl | Umbilical hernia |
| HP:0002007 | http://purl.obolibrary.org/obo/hp.owl | Frontal bossing |
| HP:0002980 | http://purl.obolibrary.org/obo/hp.owl | Femoral bowing |
| HP:0002982 | http://purl.obolibrary.org/obo/hp.owl | Tibial bowing |
| HP:0003021 | http://purl.obolibrary.org/obo/hp.owl | Metaphyseal cupping |
| HP:0005011 | http://purl.obolibrary.org/obo/hp.owl | Mesomelic arm shortening |
| HP:0008803 | http://purl.obolibrary.org/obo/hp.owl | obsolete Narrow sacroiliac notch |
| HP:0009117 | http://purl.obolibrary.org/obo/hp.owl | Aplasia/Hypoplasia of the maxilla |
| HP:0011220 | http://purl.obolibrary.org/obo/hp.owl | Prominent forehead |
| HP:0012801 | http://purl.obolibrary.org/obo/hp.owl | Narrow jaw |
| HP:0000243 | http://purl.obolibrary.org/obo/hp.owl | Trigonocephaly |
| HP:0000358 | http://purl.obolibrary.org/obo/hp.owl | Posteriorly rotated ears |
| HP:0000411 | http://purl.obolibrary.org/obo/hp.owl | Protruding ear |
| HP:0000646 | http://purl.obolibrary.org/obo/hp.owl | Amblyopia |
| HP:0002812 | http://purl.obolibrary.org/obo/hp.owl | Coxa vara |
| HP:0002970 | http://purl.obolibrary.org/obo/hp.owl | Genu varum |
| HP:0012775 | http://purl.obolibrary.org/obo/hp.owl | Stellate iris |
| HP:0000278 | http://purl.obolibrary.org/obo/hp.owl | Retrognathia |
| HP:0009796 | http://purl.obolibrary.org/obo/hp.owl | Branchial cyst |
| HP:0002474 | http://purl.obolibrary.org/obo/hp.owl | Expressive language delay |
| HP:0007018 | http://purl.obolibrary.org/obo/hp.owl | Attention deficit hyperactivity disorder |
| HP:0003198 | http://purl.obolibrary.org/obo/hp.owl | Myopathy |
| HP:0003324 | http://purl.obolibrary.org/obo/hp.owl | Generalized muscle weakness |
| HP:0003552 | http://purl.obolibrary.org/obo/hp.owl | Muscle stiffness |
| HP:0003554 | http://purl.obolibrary.org/obo/hp.owl | Type 2 muscle fiber atrophy |
| HP:0003557 | http://purl.obolibrary.org/obo/hp.owl | Increased variability in muscle fiber diameter |
| HP:0009025 | http://purl.obolibrary.org/obo/hp.owl | Increased connective tissue |
| HP:0003635 | http://purl.obolibrary.org/obo/hp.owl | Loss of subcutaneous adipose tissue in limbs |
| HP:0002597 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the vasculature |
| HP:0001649 | http://purl.obolibrary.org/obo/hp.owl | Tachycardia |
| HP:0001638 | http://purl.obolibrary.org/obo/hp.owl | Cardiomyopathy |
| HP:0001654 | http://purl.obolibrary.org/obo/hp.owl | Abnormal heart valve morphology |
| HP:0001671 | http://purl.obolibrary.org/obo/hp.owl | Abnormal cardiac septum morphology |
| HP:0000103 | http://purl.obolibrary.org/obo/hp.owl | Polyuria |
| HP:0000114 | http://purl.obolibrary.org/obo/hp.owl | Proximal tubulopathy |
| HP:0001878 | http://purl.obolibrary.org/obo/hp.owl | Hemolytic anemia |
| HP:0001931 | http://purl.obolibrary.org/obo/hp.owl | Hypochromic anemia |
| HP:0001935 | http://purl.obolibrary.org/obo/hp.owl | Microcytic anemia |
| HP:0001959 | http://purl.obolibrary.org/obo/hp.owl | Polydipsia |
| HP:0001994 | http://purl.obolibrary.org/obo/hp.owl | Renal Fanconi syndrome |
| HP:0002134 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the basal ganglia |
| HP:0002188 | http://purl.obolibrary.org/obo/hp.owl | Delayed CNS myelination |
| HP:0002908 | http://purl.obolibrary.org/obo/hp.owl | Conjugated hyperbilirubinemia |
| HP:0003774 | http://purl.obolibrary.org/obo/hp.owl | Stage 5 chronic kidney disease |
| HP:0010700 | http://purl.obolibrary.org/obo/hp.owl | obsolete Total cataract |
| HP:0000193 | http://purl.obolibrary.org/obo/hp.owl | Bifid uvula |
| HP:0000219 | http://purl.obolibrary.org/obo/hp.owl | Thin upper lip vermilion |
| HP:0000426 | http://purl.obolibrary.org/obo/hp.owl | Prominent nasal bridge |
| HP:0000452 | http://purl.obolibrary.org/obo/hp.owl | Choanal stenosis |
| HP:0000490 | http://purl.obolibrary.org/obo/hp.owl | Deeply set eye |
| HP:0000540 | http://purl.obolibrary.org/obo/hp.owl | Hypermetropia |
| HP:0000579 | http://purl.obolibrary.org/obo/hp.owl | Nasolacrimal duct obstruction |
| HP:0000684 | http://purl.obolibrary.org/obo/hp.owl | Delayed eruption of teeth |
| HP:0000960 | http://purl.obolibrary.org/obo/hp.owl | Sacral dimple |
| HP:0000998 | http://purl.obolibrary.org/obo/hp.owl | Hypertrichosis |
| HP:0001643 | http://purl.obolibrary.org/obo/hp.owl | Patent ductus arteriosus |
| HP:0010813 | http://purl.obolibrary.org/obo/hp.owl | Abnormal number of hair whorls |
| HP:0012384 | http://purl.obolibrary.org/obo/hp.owl | Rhinitis |
| HP:0012745 | http://purl.obolibrary.org/obo/hp.owl | Short palpebral fissure |
| HP:0000359 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the inner ear |
| HP:0000429 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the nasal alae |
| HP:0000436 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the nasal tip |
| HP:0000499 | http://purl.obolibrary.org/obo/hp.owl | Abnormal eyelash morphology |
| HP:0000534 | http://purl.obolibrary.org/obo/hp.owl | Abnormal eyebrow morphology |
| HP:0000951 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the skin |
| HP:0001000 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of skin pigmentation |
| HP:0001597 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the nail |
| HP:0006483 | http://purl.obolibrary.org/obo/hp.owl | Abnormal number of teeth |
| HP:0009929 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the columella |
| HP:0011119 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the nasal dorsum |
| HP:0012808 | http://purl.obolibrary.org/obo/hp.owl | Abnormal nasal base |
| HP:0100490 | http://purl.obolibrary.org/obo/hp.owl | Camptodactyly of finger |
| HP:0000964 | http://purl.obolibrary.org/obo/hp.owl | Eczema |
| HP:0004442 | http://purl.obolibrary.org/obo/hp.owl | Sagittal craniosynostosis |
| HP:0000414 | http://purl.obolibrary.org/obo/hp.owl | Bulbous nose |
| HP:0003180 | http://purl.obolibrary.org/obo/hp.owl | Flat acetabular roof |
| HP:0000422 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the nasal bridge |
| HP:0000614 | http://purl.obolibrary.org/obo/hp.owl | Abnormal nasolacrimal system morphology |
| HP:0001167 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of finger |
| HP:0001595 | http://purl.obolibrary.org/obo/hp.owl | Abnormal hair morphology |
| HP:0012373 | http://purl.obolibrary.org/obo/hp.owl | Abnormal eye physiology |
| HP:0001655 | http://purl.obolibrary.org/obo/hp.owl | Patent foramen ovale |
| HP:0001647 | http://purl.obolibrary.org/obo/hp.owl | Bicuspid aortic valve |
| HP:0000574 | http://purl.obolibrary.org/obo/hp.owl | Thick eyebrow |
| HP:0001169 | http://purl.obolibrary.org/obo/hp.owl | Broad palm |
| HP:0006471 | http://purl.obolibrary.org/obo/hp.owl | Fixed elbow flexion |
| HP:0008689 | http://purl.obolibrary.org/obo/hp.owl | Bilateral cryptorchidism |
| HP:0011304 | http://purl.obolibrary.org/obo/hp.owl | Broad thumb |
| HP:0005110 | http://purl.obolibrary.org/obo/hp.owl | Atrial fibrillation |
| HP:0001633 | http://purl.obolibrary.org/obo/hp.owl | Abnormal mitral valve morphology |
| HP:0001641 | http://purl.obolibrary.org/obo/hp.owl | Abnormal pulmonary valve morphology |
| HP:0001702 | http://purl.obolibrary.org/obo/hp.owl | Abnormal tricuspid valve morphology |
| HP:0000012 | http://purl.obolibrary.org/obo/hp.owl | Urinary urgency |
| HP:0000020 | http://purl.obolibrary.org/obo/hp.owl | Urinary incontinence |
| HP:0000131 | http://purl.obolibrary.org/obo/hp.owl | Uterine leiomyoma |
| HP:0000132 | http://purl.obolibrary.org/obo/hp.owl | Menorrhagia |
| HP:0000138 | http://purl.obolibrary.org/obo/hp.owl | Ovarian cyst |
| HP:0000853 | http://purl.obolibrary.org/obo/hp.owl | Goiter |
| HP:0000953 | http://purl.obolibrary.org/obo/hp.owl | Hyperpigmentation of the skin |
| HP:0001061 | http://purl.obolibrary.org/obo/hp.owl | Acne |
| HP:0002315 | http://purl.obolibrary.org/obo/hp.owl | Headache |
| HP:0004324 | http://purl.obolibrary.org/obo/hp.owl | Increased body weight |
| HP:0000069 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the ureter |
| HP:0000077 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the kidney |
| HP:0000759 | http://purl.obolibrary.org/obo/hp.owl | Abnormal peripheral nervous system morphology |
| HP:0008069 | http://purl.obolibrary.org/obo/hp.owl | Neoplasm of the skin |
| HP:0011276 | http://purl.obolibrary.org/obo/hp.owl | Vascular skin abnormality |
| HP:0000705 | http://purl.obolibrary.org/obo/hp.owl | Amelogenesis imperfecta |
| HP:0001256 | http://purl.obolibrary.org/obo/hp.owl | Intellectual disability, mild |
| HP:0000325 | http://purl.obolibrary.org/obo/hp.owl | Triangular face |
| HP:0000160 | http://purl.obolibrary.org/obo/hp.owl | Narrow mouth |
| HP:0009487 | http://purl.obolibrary.org/obo/hp.owl | Ulnar deviation of the hand |
| HP:0001249 | http://purl.obolibrary.org/obo/hp.owl | Intellectual disability |
| HP:0008064 | http://purl.obolibrary.org/obo/hp.owl | Ichthyosis |
| HP:0000311 | http://purl.obolibrary.org/obo/hp.owl | Round face |
| HP:0001653 | http://purl.obolibrary.org/obo/hp.owl | Mitral regurgitation |
| HP:0001771 | http://purl.obolibrary.org/obo/hp.owl | Achilles tendon contracture |
| HP:0012032 | http://purl.obolibrary.org/obo/hp.owl | Lipoma |
| HP:0012368 | http://purl.obolibrary.org/obo/hp.owl | Flat face |
| HP:0030053 | http://purl.obolibrary.org/obo/hp.owl | Stiff skin |
| HP:0011124 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of epidermal morphology |
| HP:0011097 | http://purl.obolibrary.org/obo/hp.owl | Epileptic spasm |
| HP:0000407 | http://purl.obolibrary.org/obo/hp.owl | Sensorineural hearing impairment |
| HP:0000331 | http://purl.obolibrary.org/obo/hp.owl | Short chin |
| HP:0000340 | http://purl.obolibrary.org/obo/hp.owl | Sloping forehead |
| HP:0000486 | http://purl.obolibrary.org/obo/hp.owl | Strabismus |
| HP:0000713 | http://purl.obolibrary.org/obo/hp.owl | Agitation |
| HP:0000802 | http://purl.obolibrary.org/obo/hp.owl | Impotence |
| HP:0001272 | http://purl.obolibrary.org/obo/hp.owl | Cerebellar atrophy |
| HP:0001276 | http://purl.obolibrary.org/obo/hp.owl | Hypertonia |
| HP:0001321 | http://purl.obolibrary.org/obo/hp.owl | Cerebellar hypoplasia |
| HP:0001322 | http://purl.obolibrary.org/obo/hp.owl | obsolete Brain very small |
| HP:0002061 | http://purl.obolibrary.org/obo/hp.owl | Lower limb spasticity |
| HP:0002529 | http://purl.obolibrary.org/obo/hp.owl | Neuronal loss in central nervous system |
| HP:0002540 | http://purl.obolibrary.org/obo/hp.owl | Inability to walk |
| HP:0005484 | http://purl.obolibrary.org/obo/hp.owl | Postnatal microcephaly |
| HP:0012850 | http://purl.obolibrary.org/obo/hp.owl | Small intestinal dysmotility |
| HP:0000504 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of vision |
| HP:0002118 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the cerebral ventricles |
| HP:0002363 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of brainstem morphology |
| HP:0010651 | http://purl.obolibrary.org/obo/hp.owl | Abnormal meningeal morphology |
| HP:0100024 | http://purl.obolibrary.org/obo/hp.owl | Conspicuously happy disposition |
| HP:0002538 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the cerebral cortex |
| HP:0000054 | http://purl.obolibrary.org/obo/hp.owl | Micropenis |
| HP:0000215 | http://purl.obolibrary.org/obo/hp.owl | Thick upper lip vermilion |
| HP:0000293 | http://purl.obolibrary.org/obo/hp.owl | Full cheeks |
| HP:0000349 | http://purl.obolibrary.org/obo/hp.owl | Widow's peak |
| HP:0000444 | http://purl.obolibrary.org/obo/hp.owl | Convex nasal ridge |
| HP:0000506 | http://purl.obolibrary.org/obo/hp.owl | Telecanthus |
| HP:0000592 | http://purl.obolibrary.org/obo/hp.owl | Blue sclerae |
| HP:0000691 | http://purl.obolibrary.org/obo/hp.owl | Microdontia |
| HP:0000698 | http://purl.obolibrary.org/obo/hp.owl | Conical tooth |
| HP:0002000 | http://purl.obolibrary.org/obo/hp.owl | Short columella |
| HP:0002097 | http://purl.obolibrary.org/obo/hp.owl | Emphysema |
| HP:0002209 | http://purl.obolibrary.org/obo/hp.owl | Sparse scalp hair |
| HP:0002816 | http://purl.obolibrary.org/obo/hp.owl | Genu recurvatum |
| HP:0005116 | http://purl.obolibrary.org/obo/hp.owl | Arterial tortuosity |
| HP:0007957 | http://purl.obolibrary.org/obo/hp.owl | Corneal opacity |
| HP:0008070 | http://purl.obolibrary.org/obo/hp.owl | Sparse hair |
| HP:0009623 | http://purl.obolibrary.org/obo/hp.owl | Proximal placement of thumb |
| HP:0010055 | http://purl.obolibrary.org/obo/hp.owl | Broad hallux |
| HP:0011318 | http://purl.obolibrary.org/obo/hp.owl | Bicoronal synostosis |
| HP:0011968 | http://purl.obolibrary.org/obo/hp.owl | Feeding difficulties |
| HP:0200067 | http://purl.obolibrary.org/obo/hp.owl | Recurrent spontaneous abortion |
| HP:0011819 | http://purl.obolibrary.org/obo/hp.owl | Submucous cleft soft palate |
| HP:0000268 | http://purl.obolibrary.org/obo/hp.owl | Dolichocephaly |
| HP:0003302 | http://purl.obolibrary.org/obo/hp.owl | Spondylolisthesis |
| HP:0000582 | http://purl.obolibrary.org/obo/hp.owl | Upslanted palpebral fissure |
| HP:0000952 | http://purl.obolibrary.org/obo/hp.owl | Jaundice |
| HP:0001298 | http://purl.obolibrary.org/obo/hp.owl | Encephalopathy |
| HP:0001396 | http://purl.obolibrary.org/obo/hp.owl | Cholestasis |
| HP:0002059 | http://purl.obolibrary.org/obo/hp.owl | Cerebral atrophy |
| HP:0002171 | http://purl.obolibrary.org/obo/hp.owl | Gliosis |
| HP:0002240 | http://purl.obolibrary.org/obo/hp.owl | Hepatomegaly |
| HP:0002353 | http://purl.obolibrary.org/obo/hp.owl | EEG abnormality |
| HP:0002446 | http://purl.obolibrary.org/obo/hp.owl | Astrocytosis |
| HP:0003287 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of mitochondrial metabolism |
| HP:0011449 | http://purl.obolibrary.org/obo/hp.owl | Knee clonus |
| HP:0012852 | http://purl.obolibrary.org/obo/hp.owl | Hepatic bridging fibrosis |
| HP:0100626 | http://purl.obolibrary.org/obo/hp.owl | Chronic hepatic failure |
| HP:0000385 | http://purl.obolibrary.org/obo/hp.owl | Small earlobe |
| HP:0009748 | http://purl.obolibrary.org/obo/hp.owl | Large earlobe |
| HP:0000157 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the tongue |
| HP:0000172 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the uvula |
| HP:0000174 | http://purl.obolibrary.org/obo/hp.owl | Abnormal palate morphology |
| HP:0000306 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the chin |
| HP:0004408 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the sense of smell |
| HP:0009912 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the tragus |
| HP:0000537 | http://purl.obolibrary.org/obo/hp.owl | Epicanthus inversus |
| HP:0000565 | http://purl.obolibrary.org/obo/hp.owl | Esotropia |
| HP:0000752 | http://purl.obolibrary.org/obo/hp.owl | Hyperactivity |
| HP:0003186 | http://purl.obolibrary.org/obo/hp.owl | Inverted nipples |
| HP:0012503 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the pituitary gland |
| HP:0100710 | http://purl.obolibrary.org/obo/hp.owl | Impulsivity |
| HP:0000357 | http://purl.obolibrary.org/obo/hp.owl | Abnormal location of ears |
| HP:0000820 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the thyroid gland |
| HP:0000828 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the parathyroid gland |
| HP:0000834 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the adrenal glands |
| HP:0012093 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of endocrine pancreas physiology |
| HP:0000269 | http://purl.obolibrary.org/obo/hp.owl | Prominent occiput |
| HP:0000535 | http://purl.obolibrary.org/obo/hp.owl | Sparse and thin eyebrow |
| HP:0000639 | http://purl.obolibrary.org/obo/hp.owl | Nystagmus |
| HP:0000718 | http://purl.obolibrary.org/obo/hp.owl | Aggressive behavior |
| HP:0000957 | http://purl.obolibrary.org/obo/hp.owl | Cafe-au-lait spot |
| HP:0000256 | http://purl.obolibrary.org/obo/hp.owl | Macrocephaly |
| HP:0000750 | http://purl.obolibrary.org/obo/hp.owl | Delayed speech and language development |
| HP:0000963 | http://purl.obolibrary.org/obo/hp.owl | Thin skin |
| HP:0001260 | http://purl.obolibrary.org/obo/hp.owl | Dysarthria |
| HP:0002194 | http://purl.obolibrary.org/obo/hp.owl | Delayed gross motor development |
| HP:0003196 | http://purl.obolibrary.org/obo/hp.owl | Short nose |
| HP:0001155 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the hand |
| HP:0100022 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of movement |
| HP:0010862 | http://purl.obolibrary.org/obo/hp.owl | Delayed fine motor development |
| HP:0000343 | http://purl.obolibrary.org/obo/hp.owl | Long philtrum |
| HP:0000717 | http://purl.obolibrary.org/obo/hp.owl | Autism |
| HP:0001883 | http://purl.obolibrary.org/obo/hp.owl | Talipes |
| HP:0002553 | http://purl.obolibrary.org/obo/hp.owl | Highly arched eyebrow |
| HP:0007488 | http://purl.obolibrary.org/obo/hp.owl | Diffuse skin atrophy |
| HP:0000822 | http://purl.obolibrary.org/obo/hp.owl | Hypertension |
| HP:0001278 | http://purl.obolibrary.org/obo/hp.owl | Orthostatic hypotension |
| HP:0001944 | http://purl.obolibrary.org/obo/hp.owl | Dehydration |
| HP:0001945 | http://purl.obolibrary.org/obo/hp.owl | Fever |
| HP:0002019 | http://purl.obolibrary.org/obo/hp.owl | Constipation |
| HP:0002020 | http://purl.obolibrary.org/obo/hp.owl | Gastroesophageal reflux |
| HP:0002027 | http://purl.obolibrary.org/obo/hp.owl | Abdominal pain |
| HP:0002718 | http://purl.obolibrary.org/obo/hp.owl | Recurrent bacterial infections |
| HP:0002841 | http://purl.obolibrary.org/obo/hp.owl | Recurrent fungal infections |
| HP:0004395 | http://purl.obolibrary.org/obo/hp.owl | Malnutrition |
| HP:0009830 | http://purl.obolibrary.org/obo/hp.owl | Peripheral neuropathy |
| HP:0000126 | http://purl.obolibrary.org/obo/hp.owl | Hydronephrosis |
| HP:0000519 | http://purl.obolibrary.org/obo/hp.owl | Developmental cataract |
| HP:0000648 | http://purl.obolibrary.org/obo/hp.owl | Optic atrophy |
| HP:0001053 | http://purl.obolibrary.org/obo/hp.owl | Hypopigmented skin patches |
| HP:0001087 | http://purl.obolibrary.org/obo/hp.owl | Developmental glaucoma |
| HP:0002119 | http://purl.obolibrary.org/obo/hp.owl | Ventriculomegaly |
| HP:0002280 | http://purl.obolibrary.org/obo/hp.owl | Enlarged cisterna magna |
| HP:0003298 | http://purl.obolibrary.org/obo/hp.owl | Spina bifida occulta |
| HP:0004467 | http://purl.obolibrary.org/obo/hp.owl | Preauricular pit |
| HP:0008511 | http://purl.obolibrary.org/obo/hp.owl | Central posterior corneal opacity |
| HP:0010780 | http://purl.obolibrary.org/obo/hp.owl | Hyperacusis |
| HP:0030048 | http://purl.obolibrary.org/obo/hp.owl | Colpocephaly |
| HP:0100335 | http://purl.obolibrary.org/obo/hp.owl | Non-midline cleft lip |
| HP:0000525 | http://purl.obolibrary.org/obo/hp.owl | Abnormality iris morphology |
| HP:0002719 | http://purl.obolibrary.org/obo/hp.owl | Recurrent infections |
| HP:0000153 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the mouth |
| HP:0001903 | http://purl.obolibrary.org/obo/hp.owl | Anemia |
| HP:0002094 | http://purl.obolibrary.org/obo/hp.owl | Dyspnea |
| HP:0002206 | http://purl.obolibrary.org/obo/hp.owl | Pulmonary fibrosis |
| HP:0002789 | http://purl.obolibrary.org/obo/hp.owl | Tachypnea |
| HP:0002793 | http://purl.obolibrary.org/obo/hp.owl | Abnormal pattern of respiration |
| HP:0003565 | http://purl.obolibrary.org/obo/hp.owl | Elevated erythrocyte sedimentation rate |
| HP:0006517 | http://purl.obolibrary.org/obo/hp.owl | Intraalveolar phospholipid accumulation |
| HP:0006530 | http://purl.obolibrary.org/obo/hp.owl | Interstitial pulmonary abnormality |
| HP:0100759 | http://purl.obolibrary.org/obo/hp.owl | Clubbing of fingers |
| HP:0002103 | http://purl.obolibrary.org/obo/hp.owl | Abnormal pleura morphology |
| HP:0001596 | http://purl.obolibrary.org/obo/hp.owl | Alopecia |
| HP:0001882 | http://purl.obolibrary.org/obo/hp.owl | Leukopenia |
| HP:0002013 | http://purl.obolibrary.org/obo/hp.owl | Vomiting |
| HP:0002028 | http://purl.obolibrary.org/obo/hp.owl | Chronic diarrhea |
| HP:0002573 | http://purl.obolibrary.org/obo/hp.owl | Hematochezia |
| HP:0002960 | http://purl.obolibrary.org/obo/hp.owl | Autoimmunity |
| HP:0005387 | http://purl.obolibrary.org/obo/hp.owl | Combined immunodeficiency |
| HP:0011109 | http://purl.obolibrary.org/obo/hp.owl | Chronic sinusitis |
| HP:0004429 | http://purl.obolibrary.org/obo/hp.owl | Recurrent viral infections |
| HP:0000280 | http://purl.obolibrary.org/obo/hp.owl | Coarse facial features |
| HP:0000294 | http://purl.obolibrary.org/obo/hp.owl | Low anterior hairline |
| HP:0000577 | http://purl.obolibrary.org/obo/hp.owl | Exotropia |
| HP:0001873 | http://purl.obolibrary.org/obo/hp.owl | Thrombocytopenia |
| HP:0002011 | http://purl.obolibrary.org/obo/hp.owl | Morphological central nervous system abnormality |
| HP:0006610 | http://purl.obolibrary.org/obo/hp.owl | Wide intermamillary distance |
| HP:0011231 | http://purl.obolibrary.org/obo/hp.owl | Prominent eyelashes |
| HP:0012718 | http://purl.obolibrary.org/obo/hp.owl | Morphological abnormality of the gastrointestinal tract |
| HP:0002024 | http://purl.obolibrary.org/obo/hp.owl | Malabsorption |
| HP:0001394 | http://purl.obolibrary.org/obo/hp.owl | Cirrhosis |
| HP:0001414 | http://purl.obolibrary.org/obo/hp.owl | Microvesicular hepatic steatosis |
| HP:0001403 | http://purl.obolibrary.org/obo/hp.owl | Macrovesicular hepatic steatosis |
| HP:0001410 | http://purl.obolibrary.org/obo/hp.owl | Decreased liver function |
| HP:0001409 | http://purl.obolibrary.org/obo/hp.owl | Portal hypertension |
| HP:0001744 | http://purl.obolibrary.org/obo/hp.owl | Splenomegaly |
| HP:0003394 | http://purl.obolibrary.org/obo/hp.owl | Muscle spasm |
| HP:0003750 | http://purl.obolibrary.org/obo/hp.owl | Increased muscle fatiguability |
| HP:0002123 | http://purl.obolibrary.org/obo/hp.owl | Generalized myoclonic seizure |
| HP:0002219 | http://purl.obolibrary.org/obo/hp.owl | Facial hypertrichosis |
| HP:0000831 | http://purl.obolibrary.org/obo/hp.owl | Insulin-resistant diabetes mellitus |
| HP:0001891 | http://purl.obolibrary.org/obo/hp.owl | Iron deficiency anemia |
| HP:0001264 | http://purl.obolibrary.org/obo/hp.owl | Spastic diplegia |
| HP:0002313 | http://purl.obolibrary.org/obo/hp.owl | Spastic paraparesis |
| HP:0001347 | http://purl.obolibrary.org/obo/hp.owl | Hyperreflexia |
| HP:0002460 | http://purl.obolibrary.org/obo/hp.owl | Distal muscle weakness |
| HP:0000763 | http://purl.obolibrary.org/obo/hp.owl | Sensory neuropathy |
| HP:0001268 | http://purl.obolibrary.org/obo/hp.owl | Mental deterioration |
| HP:0002169 | http://purl.obolibrary.org/obo/hp.owl | Clonus |
| HP:0001332 | http://purl.obolibrary.org/obo/hp.owl | Dystonia |
| HP:0100716 | http://purl.obolibrary.org/obo/hp.owl | Self-injurious behavior |
| HP:0000602 | http://purl.obolibrary.org/obo/hp.owl | Ophthalmoplegia |
| HP:0001251 | http://purl.obolibrary.org/obo/hp.owl | Ataxia |
| HP:0000776 | http://purl.obolibrary.org/obo/hp.owl | Congenital diaphragmatic hernia |
| HP:0000410 | http://purl.obolibrary.org/obo/hp.owl | Mixed hearing impairment |
| HP:0000510 | http://purl.obolibrary.org/obo/hp.owl | Rod-cone dystrophy |
| HP:0004437 | http://purl.obolibrary.org/obo/hp.owl | Cranial hyperostosis |
| HP:0011001 | http://purl.obolibrary.org/obo/hp.owl | Increased bone mineral density |
| HP:0000956 | http://purl.obolibrary.org/obo/hp.owl | Acanthosis nigricans |
| HP:0000958 | http://purl.obolibrary.org/obo/hp.owl | Dry skin |
| HP:0000580 | http://purl.obolibrary.org/obo/hp.owl | Pigmentary retinopathy |
| HP:0000649 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of visual evoked potentials |
| HP:0000657 | http://purl.obolibrary.org/obo/hp.owl | Oculomotor apraxia |
| HP:0000479 | http://purl.obolibrary.org/obo/hp.owl | Abnormal retinal morphology |
| HP:0001317 | http://purl.obolibrary.org/obo/hp.owl | Abnormal cerebellum morphology |
| HP:0001533 | http://purl.obolibrary.org/obo/hp.owl | Slender build |
| HP:0001629 | http://purl.obolibrary.org/obo/hp.owl | Ventricular septal defect |
| HP:0000703 | http://purl.obolibrary.org/obo/hp.owl | Dentinogenesis imperfecta |
| HP:0000914 | http://purl.obolibrary.org/obo/hp.owl | Shield chest |
| HP:0001500 | http://purl.obolibrary.org/obo/hp.owl | Broad finger |
| HP:0003086 | http://purl.obolibrary.org/obo/hp.owl | Acromesomelia |
| HP:0003416 | http://purl.obolibrary.org/obo/hp.owl | Spinal canal stenosis |
| HP:0002815 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the knee |
| HP:0002992 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of tibia morphology |
| HP:0001639 | http://purl.obolibrary.org/obo/hp.owl | Hypertrophic cardiomyopathy |
| HP:0003236 | http://purl.obolibrary.org/obo/hp.owl | Elevated serum creatine kinase |
| HP:0001369 | http://purl.obolibrary.org/obo/hp.owl | Arthritis |
| HP:0003560 | http://purl.obolibrary.org/obo/hp.owl | Muscular dystrophy |
| HP:0003974 | http://purl.obolibrary.org/obo/hp.owl | Absent radius |
| HP:0002818 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the radius |
| HP:0001561 | http://purl.obolibrary.org/obo/hp.owl | Polyhydramnios |
| HP:0002299 | http://purl.obolibrary.org/obo/hp.owl | Brittle hair |
| HP:0002208 | http://purl.obolibrary.org/obo/hp.owl | Coarse hair |
| HP:0002213 | http://purl.obolibrary.org/obo/hp.owl | Fine hair |
| HP:0000522 | http://purl.obolibrary.org/obo/hp.owl | Alacrima |
| HP:0100704 | http://purl.obolibrary.org/obo/hp.owl | Cerebral visual impairment |
| HP:0012713 | http://purl.obolibrary.org/obo/hp.owl | Moderate hearing impairment |
| HP:0002307 | http://purl.obolibrary.org/obo/hp.owl | Drooling |
| HP:0002714 | http://purl.obolibrary.org/obo/hp.owl | Downturned corners of mouth |
| HP:0000191 | http://purl.obolibrary.org/obo/hp.owl | Accessory oral frenulum |
| HP:0000158 | http://purl.obolibrary.org/obo/hp.owl | Macroglossia |
| HP:0012020 | http://purl.obolibrary.org/obo/hp.owl | Right aortic arch |
| HP:0002104 | http://purl.obolibrary.org/obo/hp.owl | Apnea |
| HP:0000598 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the ear |
| HP:0007874 | http://purl.obolibrary.org/obo/hp.owl | Almond-shaped palpebral fissure |
| HP:0010804 | http://purl.obolibrary.org/obo/hp.owl | Tented upper lip vermilion |
| HP:0000885 | http://purl.obolibrary.org/obo/hp.owl | Broad ribs |
| HP:0000768 | http://purl.obolibrary.org/obo/hp.owl | Pectus carinatum |
| HP:0001680 | http://purl.obolibrary.org/obo/hp.owl | Coarctation of aorta |
| HP:0000687 | http://purl.obolibrary.org/obo/hp.owl | Widely spaced teeth |
| HP:0000047 | http://purl.obolibrary.org/obo/hp.owl | Hypospadias |
| HP:0001943 | http://purl.obolibrary.org/obo/hp.owl | Hypoglycemia |
| HP:0012369 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of malar bones |
| HP:0009900 | http://purl.obolibrary.org/obo/hp.owl | Unilateral deafness |
| HP:0000023 | http://purl.obolibrary.org/obo/hp.owl | Inguinal hernia |
| HP:0000074 | http://purl.obolibrary.org/obo/hp.owl | Ureteropelvic junction obstruction |
| HP:0001800 | http://purl.obolibrary.org/obo/hp.owl | Hypoplastic toenails |
| HP:0001804 | http://purl.obolibrary.org/obo/hp.owl | Hypoplastic fingernail |
| HP:0002949 | http://purl.obolibrary.org/obo/hp.owl | Fused cervical vertebrae |
| HP:0008050 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the palpebral fissures |
| HP:0008577 | http://purl.obolibrary.org/obo/hp.owl | Underfolded helix |
| HP:0008589 | http://purl.obolibrary.org/obo/hp.owl | Hypoplastic helices |
| HP:0010863 | http://purl.obolibrary.org/obo/hp.owl | Receptive language delay |
| HP:0002282 | http://purl.obolibrary.org/obo/hp.owl | Gray matter heterotopia |
| HP:0002085 | http://purl.obolibrary.org/obo/hp.owl | Occipital encephalocele |
| HP:0001057 | http://purl.obolibrary.org/obo/hp.owl | Aplasia cutis congenita |
| HP:0000211 | http://purl.obolibrary.org/obo/hp.owl | Trismus |
| HP:0008422 | http://purl.obolibrary.org/obo/hp.owl | Vertebral wedging |
| HP:0003170 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the acetabulum |
| HP:0003272 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the hip bone |
| HP:0003028 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the ankles |
| HP:0003301 | http://purl.obolibrary.org/obo/hp.owl | Irregular vertebral endplates |
| HP:0010508 | http://purl.obolibrary.org/obo/hp.owl | Metatarsus valgus |
| HP:0009811 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the elbow |
| HP:0000736 | http://purl.obolibrary.org/obo/hp.owl | Short attention span |
| HP:0002912 | http://purl.obolibrary.org/obo/hp.owl | Methylmalonic acidemia |
| HP:0001941 | http://purl.obolibrary.org/obo/hp.owl | Acidosis |
| HP:0001992 | http://purl.obolibrary.org/obo/hp.owl | Organic aciduria |
| HP:0009027 | http://purl.obolibrary.org/obo/hp.owl | Foot dorsiflexor weakness |
| HP:0002063 | http://purl.obolibrary.org/obo/hp.owl | Rigidity |
| HP:0000384 | http://purl.obolibrary.org/obo/hp.owl | Preauricular skin tag |
| HP:0200046 | http://purl.obolibrary.org/obo/hp.owl | Cat cry |
| HP:0001357 | http://purl.obolibrary.org/obo/hp.owl | Plagiocephaly |
| HP:0000670 | http://purl.obolibrary.org/obo/hp.owl | Carious teeth |
| HP:0011090 | http://purl.obolibrary.org/obo/hp.owl | Fused teeth |
| HP:0012810 | http://purl.obolibrary.org/obo/hp.owl | Wide nasal base |
| HP:0010296 | http://purl.obolibrary.org/obo/hp.owl | Ankyloglossia |
| HP:0001636 | http://purl.obolibrary.org/obo/hp.owl | Tetralogy of Fallot |
| HP:0001305 | http://purl.obolibrary.org/obo/hp.owl | Dandy-Walker malformation |
| HP:0000238 | http://purl.obolibrary.org/obo/hp.owl | Hydrocephalus |
| HP:0005469 | http://purl.obolibrary.org/obo/hp.owl | Flat occiput |
| HP:0000270 | http://purl.obolibrary.org/obo/hp.owl | Delayed cranial suture closure |
| HP:0000239 | http://purl.obolibrary.org/obo/hp.owl | Large fontanelles |
| HP:0010537 | http://purl.obolibrary.org/obo/hp.owl | Wide cranial sutures |
| HP:0002217 | http://purl.obolibrary.org/obo/hp.owl | Slow-growing hair |
| HP:0000587 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the optic nerve |
| HP:0005989 | http://purl.obolibrary.org/obo/hp.owl | Redundant neck skin |
| HP:0010775 | http://purl.obolibrary.org/obo/hp.owl | Vascular ring |
| HP:0002779 | http://purl.obolibrary.org/obo/hp.owl | Tracheomalacia |
| HP:0002827 | http://purl.obolibrary.org/obo/hp.owl | Hip dislocation |
| HP:0001302 | http://purl.obolibrary.org/obo/hp.owl | Pachygyria |
| HP:0007362 | http://purl.obolibrary.org/obo/hp.owl | Aplasia/Hypoplasia of the brainstem |
| HP:0001558 | http://purl.obolibrary.org/obo/hp.owl | Decreased fetal movement |
| HP:0010878 | http://purl.obolibrary.org/obo/hp.owl | Fetal cystic hygroma |
| HP:0011398 | http://purl.obolibrary.org/obo/hp.owl | Central hypotonia |
| HP:0002071 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of extrapyramidal motor function |
| HP:0000826 | http://purl.obolibrary.org/obo/hp.owl | Precocious puberty |
| HP:0000014 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the bladder |
| HP:0005037 | http://purl.obolibrary.org/obo/hp.owl | Proximal radio-ulnar synostosis |
| HP:0100543 | http://purl.obolibrary.org/obo/hp.owl | Cognitive impairment |
| HP:0000481 | http://purl.obolibrary.org/obo/hp.owl | Abnormal cornea morphology |
| HP:0000076 | http://purl.obolibrary.org/obo/hp.owl | Vesicoureteral reflux |
| HP:0000297 | http://purl.obolibrary.org/obo/hp.owl | Facial hypotonia |
| HP:0000391 | http://purl.obolibrary.org/obo/hp.owl | Thickened helices |
| HP:0001162 | http://purl.obolibrary.org/obo/hp.owl | Postaxial hand polydactyly |
| HP:0001385 | http://purl.obolibrary.org/obo/hp.owl | Hip dysplasia |
| HP:0002342 | http://purl.obolibrary.org/obo/hp.owl | Intellectual disability, moderate |
| HP:0003191 | http://purl.obolibrary.org/obo/hp.owl | Cleft ala nasi |
| HP:0009765 | http://purl.obolibrary.org/obo/hp.owl | Low hanging columella |
| HP:0010297 | http://purl.obolibrary.org/obo/hp.owl | Bifid tongue |
| HP:0011330 | http://purl.obolibrary.org/obo/hp.owl | Metopic synostosis |
| HP:0012804 | http://purl.obolibrary.org/obo/hp.owl | Corneal ulceration |
| HP:0010485 | http://purl.obolibrary.org/obo/hp.owl | Hyperextensibility at elbow |
| HP:0000609 | http://purl.obolibrary.org/obo/hp.owl | Optic nerve hypoplasia |
| HP:0001176 | http://purl.obolibrary.org/obo/hp.owl | Large hands |
| HP:0004233 | http://purl.obolibrary.org/obo/hp.owl | Advanced ossification of carpal bones |
| HP:0100842 | http://purl.obolibrary.org/obo/hp.owl | Septo-optic dysplasia |
| HP:0002034 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the rectum |
| HP:0002283 | http://purl.obolibrary.org/obo/hp.owl | Global brain atrophy |
| HP:0003115 | http://purl.obolibrary.org/obo/hp.owl | Abnormal EKG |
| HP:0002577 | http://purl.obolibrary.org/obo/hp.owl | Abnormal stomach morphology |
| HP:0002539 | http://purl.obolibrary.org/obo/hp.owl | Cortical dysplasia |
| HP:0006818 | http://purl.obolibrary.org/obo/hp.owl | 4-layered lissencephaly |
| HP:0000593 | http://purl.obolibrary.org/obo/hp.owl | Abnormal anterior chamber morphology |
| HP:0000179 | http://purl.obolibrary.org/obo/hp.owl | Thick lower lip vermilion |
| HP:0002002 | http://purl.obolibrary.org/obo/hp.owl | Deep philtrum |
| HP:0009931 | http://purl.obolibrary.org/obo/hp.owl | Enlarged naris |
| HP:0002948 | http://purl.obolibrary.org/obo/hp.owl | Vertebral fusion |
| HP:0002937 | http://purl.obolibrary.org/obo/hp.owl | Hemivertebrae |
| HP:0002308 | http://purl.obolibrary.org/obo/hp.owl | Arnold-Chiari malformation |
| HP:0011320 | http://purl.obolibrary.org/obo/hp.owl | Unilambdoid synostosis |
| HP:0002781 | http://purl.obolibrary.org/obo/hp.owl | Upper airway obstruction |
| HP:0001363 | http://purl.obolibrary.org/obo/hp.owl | Craniosynostosis |
| HP:0000204 | http://purl.obolibrary.org/obo/hp.owl | Cleft upper lip |
| HP:0001738 | http://purl.obolibrary.org/obo/hp.owl | Exocrine pancreatic insufficiency |
| HP:0002823 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of femur morphology |
| HP:0000823 | http://purl.obolibrary.org/obo/hp.owl | Delayed puberty |
| HP:0100279 | http://purl.obolibrary.org/obo/hp.owl | Ulcerative colitis |
| HP:0003834 | http://purl.obolibrary.org/obo/hp.owl | Shoulder dislocation |
| HP:0001065 | http://purl.obolibrary.org/obo/hp.owl | Striae distensae |
| HP:0000448 | http://purl.obolibrary.org/obo/hp.owl | Prominent nose |
| HP:0000554 | http://purl.obolibrary.org/obo/hp.owl | Uveitis |
| HP:0001006 | http://purl.obolibrary.org/obo/hp.owl | obsolete Hypotrichosis |
| HP:0000501 | http://purl.obolibrary.org/obo/hp.owl | Glaucoma |
| HP:0000262 | http://purl.obolibrary.org/obo/hp.owl | Turricephaly |
| HP:0000729 | http://purl.obolibrary.org/obo/hp.owl | Autistic behavior |
| HP:0010800 | http://purl.obolibrary.org/obo/hp.owl | Absent cupid's bow |
| HP:0010808 | http://purl.obolibrary.org/obo/hp.owl | Protruding tongue |
| HP:0009927 | http://purl.obolibrary.org/obo/hp.owl | Aplasia of the nose |
| HP:0100539 | http://purl.obolibrary.org/obo/hp.owl | Periorbital edema |
| HP:0000629 | http://purl.obolibrary.org/obo/hp.owl | Periorbital fullness |
| HP:0000178 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of lower lip |
| HP:0000168 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the gingiva |
| HP:0001022 | http://purl.obolibrary.org/obo/hp.owl | Albinism |
| HP:0000177 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of upper lip |
| HP:0001337 | http://purl.obolibrary.org/obo/hp.owl | Tremor |
| HP:0002135 | http://purl.obolibrary.org/obo/hp.owl | Basal ganglia calcification |
| HP:0002352 | http://purl.obolibrary.org/obo/hp.owl | Leukoencephalopathy |
| HP:0002514 | http://purl.obolibrary.org/obo/hp.owl | Cerebral calcification |
| HP:0010576 | http://purl.obolibrary.org/obo/hp.owl | Intracranial cystic lesion |
| HP:0001622 | http://purl.obolibrary.org/obo/hp.owl | Premature birth |
| HP:0002415 | http://purl.obolibrary.org/obo/hp.owl | Leukodystrophy |
| HP:0001320 | http://purl.obolibrary.org/obo/hp.owl | Cerebellar vermis hypoplasia |
| HP:0001773 | http://purl.obolibrary.org/obo/hp.owl | Short foot |
| HP:0002750 | http://purl.obolibrary.org/obo/hp.owl | Delayed skeletal maturation |
| HP:0004415 | http://purl.obolibrary.org/obo/hp.owl | Pulmonary artery stenosis |
| HP:0012741 | http://purl.obolibrary.org/obo/hp.owl | Unilateral cryptorchidism |
| HP:0000036 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the penis |
| HP:0002408 | http://purl.obolibrary.org/obo/hp.owl | Cerebral arteriovenous malformation |
| HP:0007457 | http://purl.obolibrary.org/obo/hp.owl | Prominent veins on trunk |
| HP:0000378 | http://purl.obolibrary.org/obo/hp.owl | Cupped ear |
| HP:0000396 | http://purl.obolibrary.org/obo/hp.owl | Overfolded helix |
| HP:0000035 | http://purl.obolibrary.org/obo/hp.owl | Abnormal testis morphology |
| HP:0009895 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the crus of the helix |
| HP:0000034 | http://purl.obolibrary.org/obo/hp.owl | Hydrocele testis |
| HP:0000722 | http://purl.obolibrary.org/obo/hp.owl | Obsessive-compulsive behavior |
| HP:0000845 | http://purl.obolibrary.org/obo/hp.owl | Growth hormone excess |
| HP:0100829 | http://purl.obolibrary.org/obo/hp.owl | Galactorrhea |
| HP:0001578 | http://purl.obolibrary.org/obo/hp.owl | Increased circulating cortisol level |
| HP:0000786 | http://purl.obolibrary.org/obo/hp.owl | Primary amenorrhea |
| HP:0001701 | http://purl.obolibrary.org/obo/hp.owl | Pericarditis |
| HP:0002076 | http://purl.obolibrary.org/obo/hp.owl | Migraine |
| HP:0004755 | http://purl.obolibrary.org/obo/hp.owl | Supraventricular tachycardia |
| HP:0010522 | http://purl.obolibrary.org/obo/hp.owl | Dyslexia |
| HP:0004313 | http://purl.obolibrary.org/obo/hp.owl | Decreased circulating antibody level |
| HP:0000011 | http://purl.obolibrary.org/obo/hp.owl | Neurogenic bladder |
| HP:0000641 | http://purl.obolibrary.org/obo/hp.owl | Dysmetric saccades |
| HP:0007772 | http://purl.obolibrary.org/obo/hp.owl | Impaired smooth pursuit |
| HP:0001583 | http://purl.obolibrary.org/obo/hp.owl | Rotary nystagmus |
| HP:0010544 | http://purl.obolibrary.org/obo/hp.owl | Vertical nystagmus |
| HP:0012735 | http://purl.obolibrary.org/obo/hp.owl | Cough |
| HP:0002075 | http://purl.obolibrary.org/obo/hp.owl | Dysdiadochokinesis |
| HP:0007256 | http://purl.obolibrary.org/obo/hp.owl | Abnormal pyramidal sign |
| HP:0001257 | http://purl.obolibrary.org/obo/hp.owl | Spasticity |
| HP:0002321 | http://purl.obolibrary.org/obo/hp.owl | Vertigo |
| HP:0002384 | http://purl.obolibrary.org/obo/hp.owl | Focal impaired awareness seizure |
| HP:0011376 | http://purl.obolibrary.org/obo/hp.owl | Morphological abnormality of the vestibule of the inner ear |
| HP:0002326 | http://purl.obolibrary.org/obo/hp.owl | Transient ischemic attack |
| HP:0005584 | http://purl.obolibrary.org/obo/hp.owl | Renal cell carcinoma |
| HP:0003124 | http://purl.obolibrary.org/obo/hp.owl | Hypercholesterolemia |
| HP:0003002 | http://purl.obolibrary.org/obo/hp.owl | Breast carcinoma |
| HP:0004953 | http://purl.obolibrary.org/obo/hp.owl | obsolete Dilatation of abdominal aorta |
| HP:0004944 | http://purl.obolibrary.org/obo/hp.owl | Dilatation of the cerebral artery |
| HP:0000100 | http://purl.obolibrary.org/obo/hp.owl | Nephrotic syndrome |
| HP:0002783 | http://purl.obolibrary.org/obo/hp.owl | Recurrent lower respiratory tract infections |
| HP:0003470 | http://purl.obolibrary.org/obo/hp.owl | Paralysis |
| HP:0006597 | http://purl.obolibrary.org/obo/hp.owl | Diaphragmatic paralysis |
| HP:0008151 | http://purl.obolibrary.org/obo/hp.owl | Prolonged prothrombin time |
| HP:0010628 | http://purl.obolibrary.org/obo/hp.owl | Facial palsy |
| HP:0011892 | http://purl.obolibrary.org/obo/hp.owl | Low levels of vitamin K |
| HP:0001075 | http://purl.obolibrary.org/obo/hp.owl | Atrophic scars |
| HP:0001816 | http://purl.obolibrary.org/obo/hp.owl | Thin nail |
| HP:0002216 | http://purl.obolibrary.org/obo/hp.owl | Premature graying of hair |
| HP:0003401 | http://purl.obolibrary.org/obo/hp.owl | Paresthesia |
| HP:0100134 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the axillary hair |
| HP:0100797 | http://purl.obolibrary.org/obo/hp.owl | Toenail dysplasia |
| HP:0010461 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the male genitalia |
| HP:0000044 | http://purl.obolibrary.org/obo/hp.owl | Hypogonadotropic hypogonadism |
| HP:0100568 | http://purl.obolibrary.org/obo/hp.owl | Neoplasm of the endocrine system |
| HP:0001646 | http://purl.obolibrary.org/obo/hp.owl | Abnormal aortic valve morphology |
| HP:0000813 | http://purl.obolibrary.org/obo/hp.owl | Bicornuate uterus |
| HP:0004380 | http://purl.obolibrary.org/obo/hp.owl | Aortic valve calcification |
| HP:0001650 | http://purl.obolibrary.org/obo/hp.owl | Aortic valve stenosis |
| HP:0000073 | http://purl.obolibrary.org/obo/hp.owl | Ureteral duplication |
| HP:0100651 | http://purl.obolibrary.org/obo/hp.owl | Type I diabetes mellitus |
| HP:0000819 | http://purl.obolibrary.org/obo/hp.owl | Diabetes mellitus |
| HP:0000573 | http://purl.obolibrary.org/obo/hp.owl | Retinal hemorrhage |
| HP:0005264 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the gallbladder |
| HP:0000475 | http://purl.obolibrary.org/obo/hp.owl | Broad neck |
| HP:0000089 | http://purl.obolibrary.org/obo/hp.owl | Renal hypoplasia |
| HP:0000921 | http://purl.obolibrary.org/obo/hp.owl | Missing ribs |
| HP:0001789 | http://purl.obolibrary.org/obo/hp.owl | Hydrops fetalis |
| HP:0002089 | http://purl.obolibrary.org/obo/hp.owl | Pulmonary hypoplasia |
| HP:0003422 | http://purl.obolibrary.org/obo/hp.owl | Vertebral segmentation defect |
| HP:0002323 | http://purl.obolibrary.org/obo/hp.owl | Anencephaly |
| HP:0000341 | http://purl.obolibrary.org/obo/hp.owl | Narrow forehead |
| HP:0002869 | http://purl.obolibrary.org/obo/hp.owl | Flared iliac wings |
| HP:0003100 | http://purl.obolibrary.org/obo/hp.owl | Slender long bone |
| HP:0003275 | http://purl.obolibrary.org/obo/hp.owl | Narrow pelvis bone |
| HP:0009891 | http://purl.obolibrary.org/obo/hp.owl | Underdeveloped supraorbital ridges |
| HP:0011039 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the helix |
| HP:0008572 | http://purl.obolibrary.org/obo/hp.owl | External ear malformation |
| HP:0009738 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the antihelix |
| HP:0011328 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of fontanelles |
| HP:0012155 | http://purl.obolibrary.org/obo/hp.owl | Decreased corneal sensation |
| HP:0004602 | http://purl.obolibrary.org/obo/hp.owl | Cervical C2/C3 vertebral fusion |
| HP:0002997 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the ulna |
| HP:0009777 | http://purl.obolibrary.org/obo/hp.owl | Absent thumb |
| HP:0002893 | http://purl.obolibrary.org/obo/hp.owl | Pituitary adenoma |
| HP:0040278 | http://purl.obolibrary.org/obo/hp.owl | Prolactinoma |
| HP:0001555 | http://purl.obolibrary.org/obo/hp.owl | Asymmetry of the thorax |
| HP:0000902 | http://purl.obolibrary.org/obo/hp.owl | Rib fusion |
| HP:0002164 | http://purl.obolibrary.org/obo/hp.owl | Nail dysplasia |
| HP:0011314 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of long bone morphology |
| HP:0002867 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the ilium |
| HP:0000774 | http://purl.obolibrary.org/obo/hp.owl | Narrow chest |
| HP:0006482 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of dental morphology |
| HP:0004383 | http://purl.obolibrary.org/obo/hp.owl | Hypoplastic left heart |
| HP:0002015 | http://purl.obolibrary.org/obo/hp.owl | Dysphagia |
| HP:0500093 | http://purl.obolibrary.org/obo/hp.owl | Food allergy |
| HP:0001519 | http://purl.obolibrary.org/obo/hp.owl | Disproportionate tall stature |
| HP:0003179 | http://purl.obolibrary.org/obo/hp.owl | Protrusio acetabuli |
| HP:0007385 | http://purl.obolibrary.org/obo/hp.owl | Aplasia cutis congenita of scalp |
| HP:0000716 | http://purl.obolibrary.org/obo/hp.owl | Depressivity |
| HP:0012583 | http://purl.obolibrary.org/obo/hp.owl | Unilateral renal hypoplasia |
| HP:0000618 | http://purl.obolibrary.org/obo/hp.owl | Blindness |
| HP:0001004 | http://purl.obolibrary.org/obo/hp.owl | Lymphedema |
| HP:0002652 | http://purl.obolibrary.org/obo/hp.owl | Skeletal dysplasia |
| HP:0012520 | http://purl.obolibrary.org/obo/hp.owl | Perivascular spaces |
| HP:0005293 | http://purl.obolibrary.org/obo/hp.owl | Venous insufficiency |
| HP:0012432 | http://purl.obolibrary.org/obo/hp.owl | Chronic fatigue |
| HP:0002578 | http://purl.obolibrary.org/obo/hp.owl | Gastroparesis |
| HP:0001658 | http://purl.obolibrary.org/obo/hp.owl | Myocardial infarction |
| HP:0001802 | http://purl.obolibrary.org/obo/hp.owl | Absent toenail |
| HP:0001821 | http://purl.obolibrary.org/obo/hp.owl | Broad nail |
| HP:0000807 | http://purl.obolibrary.org/obo/hp.owl | Glandular hypospadias |
| HP:0100582 | http://purl.obolibrary.org/obo/hp.owl | Nasal polyposis |
| HP:0002653 | http://purl.obolibrary.org/obo/hp.owl | Bone pain |
| HP:0001073 | http://purl.obolibrary.org/obo/hp.owl | Cigarette-paper scars |
| HP:0031913 | http://purl.obolibrary.org/obo/hp.owl | Rhombencephalosynapsis |
| HP:0002617 | http://purl.obolibrary.org/obo/hp.owl | Dilatation |
| HP:0005107 | http://purl.obolibrary.org/obo/hp.owl | Abnormal sacrum morphology |
| HP:0002025 | http://purl.obolibrary.org/obo/hp.owl | Anal stenosis |
| HP:0009099 | http://purl.obolibrary.org/obo/hp.owl | Median cleft palate |
| HP:0003212 | http://purl.obolibrary.org/obo/hp.owl | Increased circulating IgE level |
| HP:0001319 | http://purl.obolibrary.org/obo/hp.owl | Neonatal hypotonia |
| HP:0002659 | http://purl.obolibrary.org/obo/hp.owl | Increased susceptibility to fractures |
| HP:0025246 | http://purl.obolibrary.org/obo/hp.owl | Trichilemmal cyst |
| HP:0002107 | http://purl.obolibrary.org/obo/hp.owl | Pneumothorax |
| HP:0000107 | http://purl.obolibrary.org/obo/hp.owl | Renal cyst |
| HP:0001025 | http://purl.obolibrary.org/obo/hp.owl | Urticaria |
| HP:0002204 | http://purl.obolibrary.org/obo/hp.owl | Pulmonary embolism |
| HP:0001058 | http://purl.obolibrary.org/obo/hp.owl | Poor wound healing |
| HP:0003010 | http://purl.obolibrary.org/obo/hp.owl | Prolonged bleeding time |
| HP:0100502 | http://purl.obolibrary.org/obo/hp.owl | Vitamin B12 deficiency |
| HP:0100510 | http://purl.obolibrary.org/obo/hp.owl | Low levels of vitamin C |
| HP:0030976 | http://purl.obolibrary.org/obo/hp.owl | Abnormal factor VIII activity |
| HP:0100789 | http://purl.obolibrary.org/obo/hp.owl | Torus palatinus |
| HP:0000108 | http://purl.obolibrary.org/obo/hp.owl | Renal corticomedullary cysts |
| HP:0000072 | http://purl.obolibrary.org/obo/hp.owl | Hydroureter |
| HP:0000019 | http://purl.obolibrary.org/obo/hp.owl | Urinary hesitancy |
| HP:0100771 | http://purl.obolibrary.org/obo/hp.owl | Hypoperistalsis |
| HP:0000021 | http://purl.obolibrary.org/obo/hp.owl | Megacystis |
| HP:0004388 | http://purl.obolibrary.org/obo/hp.owl | Microcolon |
| HP:0005247 | http://purl.obolibrary.org/obo/hp.owl | Hypoplasia of the abdominal wall musculature |
| HP:0004794 | http://purl.obolibrary.org/obo/hp.owl | Malrotation of small bowel |
| HP:0000045 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the scrotum |
| HP:0002236 | http://purl.obolibrary.org/obo/hp.owl | Frontal upsweep of hair |
| HP:0000212 | http://purl.obolibrary.org/obo/hp.owl | Gingival overgrowth |
| HP:0001808 | http://purl.obolibrary.org/obo/hp.owl | Fragile nails |
| HP:0000225 | http://purl.obolibrary.org/obo/hp.owl | Gingival bleeding |
| HP:0006009 | http://purl.obolibrary.org/obo/hp.owl | Broad phalanx |
| HP:0001837 | http://purl.obolibrary.org/obo/hp.owl | Broad toe |
| HP:0001946 | http://purl.obolibrary.org/obo/hp.owl | Ketosis |
| HP:0002490 | http://purl.obolibrary.org/obo/hp.owl | Increased CSF lactate |
| HP:0002922 | http://purl.obolibrary.org/obo/hp.owl | Increased CSF protein |
| HP:0003128 | http://purl.obolibrary.org/obo/hp.owl | Lactic acidosis |
| HP:0003111 | http://purl.obolibrary.org/obo/hp.owl | Abnormal blood ion concentration |
| HP:0032234 | http://purl.obolibrary.org/obo/hp.owl | Increased circulating creatine kinase MM isoform |
| HP:0003348 | http://purl.obolibrary.org/obo/hp.owl | Hyperalaninemia |
| HP:0008347 | http://purl.obolibrary.org/obo/hp.owl | Decreased activity of mitochondrial complex IV |
| HP:0000326 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the maxilla |
| HP:0010758 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the premaxilla |
| HP:0005681 | http://purl.obolibrary.org/obo/hp.owl | Juvenile rheumatoid arthritis |
| HP:0000514 | http://purl.obolibrary.org/obo/hp.owl | Slow saccadic eye movements |
| HP:0002788 | http://purl.obolibrary.org/obo/hp.owl | Recurrent upper respiratory tract infections |
| HP:0003396 | http://purl.obolibrary.org/obo/hp.owl | Syringomyelia |
| HP:0003011 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the musculature |
| HP:0002098 | http://purl.obolibrary.org/obo/hp.owl | Respiratory distress |
| HP:0002018 | http://purl.obolibrary.org/obo/hp.owl | Nausea |
| HP:0002014 | http://purl.obolibrary.org/obo/hp.owl | Diarrhea |
| HP:0025168 | http://purl.obolibrary.org/obo/hp.owl | Left ventricular diastolic dysfunction |
| HP:0001679 | http://purl.obolibrary.org/obo/hp.owl | Abnormal aortic morphology |
| HP:0000159 | http://purl.obolibrary.org/obo/hp.owl | Abnormal lip morphology |
| HP:0011338 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of mouth shape |
| HP:0000478 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the eye |
| HP:0000154 | http://purl.obolibrary.org/obo/hp.owl | Wide mouth |
| HP:0001513 | http://purl.obolibrary.org/obo/hp.owl | Obesity |
| HP:0002475 | http://purl.obolibrary.org/obo/hp.owl | Myelomeningocele |
| HP:0003765 | http://purl.obolibrary.org/obo/hp.owl | Psoriasiform dermatitis |
| HP:0010289 | http://purl.obolibrary.org/obo/hp.owl | Cleft of alveolar ridge of maxilla |
| HP:0003908 | http://purl.obolibrary.org/obo/hp.owl | Corner fracture of metaphysis |
| HP:0002190 | http://purl.obolibrary.org/obo/hp.owl | Choroid plexus cyst |
| HP:0004370 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of temperature regulation |
| HP:0011611 | http://purl.obolibrary.org/obo/hp.owl | Interrupted aortic arch |
| HP:0000737 | http://purl.obolibrary.org/obo/hp.owl | Irritability |
| HP:0001344 | http://purl.obolibrary.org/obo/hp.owl | Absent speech |
| HP:0002376 | http://purl.obolibrary.org/obo/hp.owl | Developmental regression |
| HP:0002140 | http://purl.obolibrary.org/obo/hp.owl | Ischemic stroke |
| HP:0001287 | http://purl.obolibrary.org/obo/hp.owl | Meningitis |
| HP:0002721 | http://purl.obolibrary.org/obo/hp.owl | Immunodeficiency |
| HP:0000041 | http://purl.obolibrary.org/obo/hp.owl | Chordee |
| HP:0012854 | http://purl.obolibrary.org/obo/hp.owl | Midshaft hypospadias |
| HP:0000808 | http://purl.obolibrary.org/obo/hp.owl | Penoscrotal hypospadias |
| HP:0000048 | http://purl.obolibrary.org/obo/hp.owl | Bifid scrotum |
| HP:0001047 | http://purl.obolibrary.org/obo/hp.owl | Atopic dermatitis |
| HP:0001621 | http://purl.obolibrary.org/obo/hp.owl | Weak voice |
| HP:0002372 | http://purl.obolibrary.org/obo/hp.owl | Normal interictal EEG |
| HP:0012803 | http://purl.obolibrary.org/obo/hp.owl | Anisometropia |
| HP:0011386 | http://purl.obolibrary.org/obo/hp.owl | Narrow internal auditory canal |
| HP:0012714 | http://purl.obolibrary.org/obo/hp.owl | Severe hearing impairment |
| HP:0006485 | http://purl.obolibrary.org/obo/hp.owl | Agenesis of incisor |
| HP:0000787 | http://purl.obolibrary.org/obo/hp.owl | Nephrolithiasis |
| HP:0011332 | http://purl.obolibrary.org/obo/hp.owl | Hemifacial hypoplasia |
| HP:0001909 | http://purl.obolibrary.org/obo/hp.owl | Leukemia |
| HP:0004808 | http://purl.obolibrary.org/obo/hp.owl | Acute myeloid leukemia |
| HP:0006495 | http://purl.obolibrary.org/obo/hp.owl | Aplasia/Hypoplasia of the ulna |
| HP:0001180 | http://purl.obolibrary.org/obo/hp.owl | Hand oligodactyly |
| HP:0002991 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of fibula morphology |
| HP:0001849 | http://purl.obolibrary.org/obo/hp.owl | Foot oligodactyly |
| HP:0006507 | http://purl.obolibrary.org/obo/hp.owl | Aplasia/hypoplasia of the humerus |
| HP:0005613 | http://purl.obolibrary.org/obo/hp.owl | Aplasia/hypoplasia of the femur |
| HP:0006492 | http://purl.obolibrary.org/obo/hp.owl | Aplasia/Hypoplasia of the fibula |
| HP:0000098 | http://purl.obolibrary.org/obo/hp.owl | Tall stature |
| HP:0003311 | http://purl.obolibrary.org/obo/hp.owl | Hypoplasia of the odontoid process |
| HP:0005752 | http://purl.obolibrary.org/obo/hp.owl | Flattened moderately deformed vertebrae |
| HP:0030039 | http://purl.obolibrary.org/obo/hp.owl | Fused thoracic vertebrae |
| HP:0003304 | http://purl.obolibrary.org/obo/hp.owl | Spondylolysis |
| HP:0001659 | http://purl.obolibrary.org/obo/hp.owl | Aortic regurgitation |
| HP:0002984 | http://purl.obolibrary.org/obo/hp.owl | Hypoplasia of the radius |
| HP:0009944 | http://purl.obolibrary.org/obo/hp.owl | Partial duplication of thumb phalanx |
| HP:0005819 | http://purl.obolibrary.org/obo/hp.owl | Short middle phalanx of finger |
| HP:0002110 | http://purl.obolibrary.org/obo/hp.owl | Bronchiectasis |
| HP:0001677 | http://purl.obolibrary.org/obo/hp.owl | Coronary artery atherosclerosis |
| HP:0001737 | http://purl.obolibrary.org/obo/hp.owl | Pancreatic cysts |
| HP:0005113 | http://purl.obolibrary.org/obo/hp.owl | Aortic arch aneurysm |
| HP:0003022 | http://purl.obolibrary.org/obo/hp.owl | Hypoplasia of the ulna |
| HP:0002205 | http://purl.obolibrary.org/obo/hp.owl | Recurrent respiratory infections |
| HP:0001669 | http://purl.obolibrary.org/obo/hp.owl | Transposition of the great arteries |
| HP:0001716 | http://purl.obolibrary.org/obo/hp.owl | Wolff-Parkinson-White syndrome |
| HP:0002758 | http://purl.obolibrary.org/obo/hp.owl | Osteoarthritis |
| HP:0002037 | http://purl.obolibrary.org/obo/hp.owl | Inflammation of the large intestine |
| HP:0009892 | http://purl.obolibrary.org/obo/hp.owl | Anotia |
| HP:0011331 | http://purl.obolibrary.org/obo/hp.owl | Hemifacial atrophy |
| HP:0009118 | http://purl.obolibrary.org/obo/hp.owl | Aplasia/Hypoplasia of the mandible |
| HP:0009940 | http://purl.obolibrary.org/obo/hp.owl | Asymmetry of the mandible |
| HP:0000682 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of dental enamel |
| HP:0009908 | http://purl.obolibrary.org/obo/hp.owl | Anterior creases of earlobe |
| HP:0001541 | http://purl.obolibrary.org/obo/hp.owl | Ascites |
| HP:0006687 | http://purl.obolibrary.org/obo/hp.owl | Aortic tortuosity |
| HP:0010535 | http://purl.obolibrary.org/obo/hp.owl | Sleep apnea |
| HP:0100633 | http://purl.obolibrary.org/obo/hp.owl | Esophagitis |
| HP:0002105 | http://purl.obolibrary.org/obo/hp.owl | Hemoptysis |
| HP:0002613 | http://purl.obolibrary.org/obo/hp.owl | Biliary cirrhosis |
| HP:0004469 | http://purl.obolibrary.org/obo/hp.owl | Chronic bronchitis |
| HP:0002720 | http://purl.obolibrary.org/obo/hp.owl | Decreased circulating IgA level |
| HP:0002904 | http://purl.obolibrary.org/obo/hp.owl | Hyperbilirubinemia |
| HP:0003237 | http://purl.obolibrary.org/obo/hp.owl | Increased circulating IgG level |
| HP:0003262 | http://purl.obolibrary.org/obo/hp.owl | Smooth muscle antibody positivity |
| HP:0011227 | http://purl.obolibrary.org/obo/hp.owl | Elevated C-reactive protein level |
| HP:0001852 | http://purl.obolibrary.org/obo/hp.owl | Sandal gap |
| HP:0004381 | http://purl.obolibrary.org/obo/hp.owl | Supravalvular aortic stenosis |
| HP:0100700 | http://purl.obolibrary.org/obo/hp.owl | Abnormal arachnoid mater morphology |
| HP:0002624 | http://purl.obolibrary.org/obo/hp.owl | Abnormal venous morphology |
| HP:0002289 | http://purl.obolibrary.org/obo/hp.owl | Alopecia universalis |
| HP:0009588 | http://purl.obolibrary.org/obo/hp.owl | Vestibular Schwannoma |
| HP:0001648 | http://purl.obolibrary.org/obo/hp.owl | Cor pulmonale |
| HP:0002091 | http://purl.obolibrary.org/obo/hp.owl | Restrictive ventilatory defect |
| HP:0002092 | http://purl.obolibrary.org/obo/hp.owl | Pulmonary arterial hypertension |
| HP:0002113 | http://purl.obolibrary.org/obo/hp.owl | Pulmonary infiltrates |
| HP:0003138 | http://purl.obolibrary.org/obo/hp.owl | Increased blood urea nitrogen |
| HP:0003259 | http://purl.obolibrary.org/obo/hp.owl | Elevated serum creatinine |
| HP:0005180 | http://purl.obolibrary.org/obo/hp.owl | Tricuspid regurgitation |
| HP:0012585 | http://purl.obolibrary.org/obo/hp.owl | Renal atrophy |
| HP:0005133 | http://purl.obolibrary.org/obo/hp.owl | Right ventricular dilatation |
| HP:0005575 | http://purl.obolibrary.org/obo/hp.owl | Hemolytic-uremic syndrome |
| HP:0001697 | http://purl.obolibrary.org/obo/hp.owl | Abnormal pericardium morphology |
| HP:0012486 | http://purl.obolibrary.org/obo/hp.owl | Myelitis |
| HP:0002385 | http://purl.obolibrary.org/obo/hp.owl | Paraparesis |
| HP:0006706 | http://purl.obolibrary.org/obo/hp.owl | Cystic liver disease |
| HP:0010880 | http://purl.obolibrary.org/obo/hp.owl | Increased nuchal translucency |
| HP:0000457 | http://purl.obolibrary.org/obo/hp.owl | Depressed nasal ridge |
| HP:0002263 | http://purl.obolibrary.org/obo/hp.owl | Exaggerated cupid's bow |
| HP:0002500 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the cerebral white matter |
| HP:0002835 | http://purl.obolibrary.org/obo/hp.owl | Aspiration |
| HP:0000600 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the pharynx |
| HP:0004327 | http://purl.obolibrary.org/obo/hp.owl | Abnormal vitreous humor morphology |
| HP:0004378 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the anus |
| HP:0012374 | http://purl.obolibrary.org/obo/hp.owl | obsolete Abnormal globe morphology |
| HP:0100768 | http://purl.obolibrary.org/obo/hp.owl | Choriocarcinoma |
| HP:0030991 | http://purl.obolibrary.org/obo/hp.owl | Sclerosing cholangitis |
| HP:0006510 | http://purl.obolibrary.org/obo/hp.owl | Chronic pulmonary obstruction |
| HP:0000710 | http://purl.obolibrary.org/obo/hp.owl | Hyperorality |
| HP:0001270 | http://purl.obolibrary.org/obo/hp.owl | Motor delay |
| HP:0001548 | http://purl.obolibrary.org/obo/hp.owl | Overgrowth |
| HP:0002311 | http://purl.obolibrary.org/obo/hp.owl | Incoordination |
| HP:0006288 | http://purl.obolibrary.org/obo/hp.owl | Advanced eruption of teeth |
| HP:0006323 | http://purl.obolibrary.org/obo/hp.owl | Premature loss of primary teeth |
| HP:0009890 | http://purl.obolibrary.org/obo/hp.owl | High anterior hairline |
| HP:0100034 | http://purl.obolibrary.org/obo/hp.owl | Motor tics |
| HP:0100035 | http://purl.obolibrary.org/obo/hp.owl | Phonic tics |
| HP:0000348 | http://purl.obolibrary.org/obo/hp.owl | High forehead |
| HP:0001520 | http://purl.obolibrary.org/obo/hp.owl | Large for gestational age |
| HP:0001239 | http://purl.obolibrary.org/obo/hp.owl | Wrist flexion contracture |
| HP:0007359 | http://purl.obolibrary.org/obo/hp.owl | Focal-onset seizure |
| HP:0000430 | http://purl.obolibrary.org/obo/hp.owl | Underdeveloped nasal alae |
| HP:0007400 | http://purl.obolibrary.org/obo/hp.owl | Irregular hyperpigmentation |
| HP:0100495 | http://purl.obolibrary.org/obo/hp.owl | Mastocytosis |
| HP:0012378 | http://purl.obolibrary.org/obo/hp.owl | Fatigue |
| HP:0002046 | http://purl.obolibrary.org/obo/hp.owl | Heat intolerance |
| HP:0003270 | http://purl.obolibrary.org/obo/hp.owl | Abdominal distention |
| HP:0002180 | http://purl.obolibrary.org/obo/hp.owl | Neurodegeneration |
| HP:0003493 | http://purl.obolibrary.org/obo/hp.owl | Antinuclear antibody positivity |
| HP:0030057 | http://purl.obolibrary.org/obo/hp.owl | Autoimmune antibody positivity |
| HP:0006802 | http://purl.obolibrary.org/obo/hp.owl | Abnormal anterior horn cell morphology |
| HP:0000064 | http://purl.obolibrary.org/obo/hp.owl | Hypoplastic labia minora |
| HP:0000338 | http://purl.obolibrary.org/obo/hp.owl | Hypomimic face |
| HP:0001642 | http://purl.obolibrary.org/obo/hp.owl | Pulmonic stenosis |
| HP:0011344 | http://purl.obolibrary.org/obo/hp.owl | Severe global developmental delay |
| HP:0200007 | http://purl.obolibrary.org/obo/hp.owl | Abnormal size of the palpebral fissures |
| HP:0004464 | http://purl.obolibrary.org/obo/hp.owl | Postauricular pit |
| HP:0000130 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the uterus |
| HP:0000137 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the ovary |
| HP:0000142 | http://purl.obolibrary.org/obo/hp.owl | Abnormal vagina morphology |
| HP:0000370 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the middle ear |
| HP:0011787 | http://purl.obolibrary.org/obo/hp.owl | Central hypothyroidism |
| HP:0000274 | http://purl.obolibrary.org/obo/hp.owl | Small face |
| HP:0000446 | http://purl.obolibrary.org/obo/hp.owl | Narrow nasal bridge |
| HP:0000622 | http://purl.obolibrary.org/obo/hp.owl | Blurred vision |
| HP:0001245 | http://purl.obolibrary.org/obo/hp.owl | Small thenar eminence |
| HP:0009601 | http://purl.obolibrary.org/obo/hp.owl | Aplasia/Hypoplasia of the thumb |
| HP:0011343 | http://purl.obolibrary.org/obo/hp.owl | Moderate global developmental delay |
| HP:0000419 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the nasal septum |
| HP:0000502 | http://purl.obolibrary.org/obo/hp.owl | Abnormal conjunctiva morphology |
| HP:0000591 | http://purl.obolibrary.org/obo/hp.owl | Abnormal sclera morphology |
| HP:0000615 | http://purl.obolibrary.org/obo/hp.owl | Abnormal pupil morphology |
| HP:0001163 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the metacarpal bones |
| HP:0001832 | http://purl.obolibrary.org/obo/hp.owl | Abnormal metatarsal morphology |
| HP:0001850 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the tarsal bones |
| HP:0010490 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the palmar creases |
| HP:0010881 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the umbilical cord |
| HP:0009113 | http://purl.obolibrary.org/obo/hp.owl | Diaphragmatic weakness |
| HP:0011664 | http://purl.obolibrary.org/obo/hp.owl | Left ventricular noncompaction cardiomyopathy |
| HP:0100240 | http://purl.obolibrary.org/obo/hp.owl | Synostosis of joints |
| HP:0001838 | http://purl.obolibrary.org/obo/hp.owl | Rocker bottom foot |
| HP:0003717 | http://purl.obolibrary.org/obo/hp.owl | Minimal subcutaneous fat |
| HP:0001339 | http://purl.obolibrary.org/obo/hp.owl | Lissencephaly |
| HP:0001591 | http://purl.obolibrary.org/obo/hp.owl | Bell-shaped thorax |
| HP:0002655 | http://purl.obolibrary.org/obo/hp.owl | Spondyloepiphyseal dysplasia |
| HP:0002983 | http://purl.obolibrary.org/obo/hp.owl | Micromelia |
| HP:0003016 | http://purl.obolibrary.org/obo/hp.owl | Metaphyseal widening |
| HP:0009826 | http://purl.obolibrary.org/obo/hp.owl | Limb undergrowth |
| HP:0004488 | http://purl.obolibrary.org/obo/hp.owl | Macrocephaly at birth |
| HP:0001695 | http://purl.obolibrary.org/obo/hp.owl | Cardiac arrest |
| HP:0001712 | http://purl.obolibrary.org/obo/hp.owl | Left ventricular hypertrophy |
| HP:0100775 | http://purl.obolibrary.org/obo/hp.owl | Dural ectasia |
| HP:0000846 | http://purl.obolibrary.org/obo/hp.owl | Adrenal insufficiency |
| HP:0002925 | http://purl.obolibrary.org/obo/hp.owl | Increased thyroid-stimulating hormone level |
| HP:0100646 | http://purl.obolibrary.org/obo/hp.owl | Thyroiditis |
| HP:0000836 | http://purl.obolibrary.org/obo/hp.owl | Hyperthyroidism |
| HP:0004414 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the pulmonary artery |
| HP:0000465 | http://purl.obolibrary.org/obo/hp.owl | Webbed neck |
| HP:0000723 | http://purl.obolibrary.org/obo/hp.owl | Restrictive behavior |
| HP:0002253 | http://purl.obolibrary.org/obo/hp.owl | Colonic diverticula |
| HP:0001310 | http://purl.obolibrary.org/obo/hp.owl | Dysmetria |
| HP:0000093 | http://purl.obolibrary.org/obo/hp.owl | Proteinuria |
| HP:0002907 | http://purl.obolibrary.org/obo/hp.owl | Microscopic hematuria |
| HP:0003073 | http://purl.obolibrary.org/obo/hp.owl | Hypoalbuminemia |
| HP:0004315 | http://purl.obolibrary.org/obo/hp.owl | Decreased circulating IgG level |
| HP:0000795 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the urethra |
| HP:0001015 | http://purl.obolibrary.org/obo/hp.owl | Prominent superficial veins |
| HP:0004691 | http://purl.obolibrary.org/obo/hp.owl | 2-3 toe syndactyly |
| HP:0005328 | http://purl.obolibrary.org/obo/hp.owl | Progeroid facial appearance |
| HP:0005487 | http://purl.obolibrary.org/obo/hp.owl | Prominent metopic ridge |
| HP:0007552 | http://purl.obolibrary.org/obo/hp.owl | Abnormal subcutaneous fat tissue distribution |
| HP:0100678 | http://purl.obolibrary.org/obo/hp.owl | Premature skin wrinkling |
| HP:0031137 | http://purl.obolibrary.org/obo/hp.owl | Storage in hepatocytes |
| HP:0002521 | http://purl.obolibrary.org/obo/hp.owl | Hypsarrhythmia |
| HP:0005390 | http://purl.obolibrary.org/obo/hp.owl | Recurrent opportunistic infections |
| HP:0002716 | http://purl.obolibrary.org/obo/hp.owl | Lymphadenopathy |
| HP:0005379 | http://purl.obolibrary.org/obo/hp.owl | obsolete Severe T lymphocytopenia |
| HP:0004432 | http://purl.obolibrary.org/obo/hp.owl | Agammaglobulinemia |
| HP:0006695 | http://purl.obolibrary.org/obo/hp.owl | Atrioventricular canal defect |
| HP:0001733 | http://purl.obolibrary.org/obo/hp.owl | Pancreatitis |
| HP:0002350 | http://purl.obolibrary.org/obo/hp.owl | Cerebellar cyst |
| HP:0012110 | http://purl.obolibrary.org/obo/hp.owl | Hypoplasia of the pons |
| HP:0001948 | http://purl.obolibrary.org/obo/hp.owl | Alkalosis |
| HP:0003113 | http://purl.obolibrary.org/obo/hp.owl | Hypochloremia |
| HP:0003155 | http://purl.obolibrary.org/obo/hp.owl | Elevated alkaline phosphatase |
| HP:0003542 | http://purl.obolibrary.org/obo/hp.owl | Increased serum pyruvate |
| HP:0000421 | http://purl.obolibrary.org/obo/hp.owl | Epistaxis |
| HP:0200136 | http://purl.obolibrary.org/obo/hp.owl | Oral-pharyngeal dysphagia |
| HP:0000805 | http://purl.obolibrary.org/obo/hp.owl | Enuresis |
| HP:0005616 | http://purl.obolibrary.org/obo/hp.owl | Accelerated skeletal maturation |
| HP:0002459 | http://purl.obolibrary.org/obo/hp.owl | obsolete Dysautonomia |
| HP:0007302 | http://purl.obolibrary.org/obo/hp.owl | Bipolar affective disorder |
| HP:0100602 | http://purl.obolibrary.org/obo/hp.owl | Preeclampsia |
| HP:0100508 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of vitamin metabolism |
| HP:0001140 | http://purl.obolibrary.org/obo/hp.owl | Limbal dermoid |
| HP:0000143 | http://purl.obolibrary.org/obo/hp.owl | Rectovaginal fistula |
| HP:0001746 | http://purl.obolibrary.org/obo/hp.owl | Asplenia |
| HP:0012715 | http://purl.obolibrary.org/obo/hp.owl | Profound hearing impairment |
| HP:0001748 | http://purl.obolibrary.org/obo/hp.owl | Polysplenia |
| HP:0003072 | http://purl.obolibrary.org/obo/hp.owl | Hypercalcemia |
| HP:0002905 | http://purl.obolibrary.org/obo/hp.owl | Hyperphosphatemia |
| HP:0002901 | http://purl.obolibrary.org/obo/hp.owl | Hypocalcemia |
| HP:0001367 | http://purl.obolibrary.org/obo/hp.owl | Abnormal joint morphology |
| HP:0010562 | http://purl.obolibrary.org/obo/hp.owl | Keloids |
| HP:0004430 | http://purl.obolibrary.org/obo/hp.owl | Severe combined immunodeficiency |
| HP:0000003 | http://purl.obolibrary.org/obo/hp.owl | Multicystic kidney dysplasia |
| HP:0010980 | http://purl.obolibrary.org/obo/hp.owl | Hyperlipoproteinemia |
| HP:0002155 | http://purl.obolibrary.org/obo/hp.owl | Hypertriglyceridemia |
| HP:0000520 | http://purl.obolibrary.org/obo/hp.owl | Proptosis |
| HP:0000180 | http://purl.obolibrary.org/obo/hp.owl | Lobulated tongue |
| HP:0005486 | http://purl.obolibrary.org/obo/hp.owl | Small fontanelle |
| HP:0000891 | http://purl.obolibrary.org/obo/hp.owl | Cervical ribs |
| HP:0002557 | http://purl.obolibrary.org/obo/hp.owl | Hypoplastic nipples |
| HP:0009112 | http://purl.obolibrary.org/obo/hp.owl | Aplasia of the left hemidiaphragm |
| HP:0001719 | http://purl.obolibrary.org/obo/hp.owl | Double outlet right ventricle |
| HP:0001682 | http://purl.obolibrary.org/obo/hp.owl | Subvalvular aortic stenosis |
| HP:0001667 | http://purl.obolibrary.org/obo/hp.owl | Right ventricular hypertrophy |
| HP:0002101 | http://purl.obolibrary.org/obo/hp.owl | Abnormal lung lobation |
| HP:0002202 | http://purl.obolibrary.org/obo/hp.owl | Pleural effusion |
| HP:0002566 | http://purl.obolibrary.org/obo/hp.owl | Intestinal malrotation |
| HP:0004510 | http://purl.obolibrary.org/obo/hp.owl | Pancreatic islet-cell hyperplasia |
| HP:0001747 | http://purl.obolibrary.org/obo/hp.owl | Accessory spleen |
| HP:0002181 | http://purl.obolibrary.org/obo/hp.owl | Cerebral edema |
| HP:0000967 | http://purl.obolibrary.org/obo/hp.owl | Petechiae |
| HP:0009702 | http://purl.obolibrary.org/obo/hp.owl | Carpal synostosis |
| HP:0000927 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of skeletal maturation |
| HP:0004348 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of bone mineral density |
| HP:0003019 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the wrist |
| HP:0003063 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the humerus |
| HP:0001059 | http://purl.obolibrary.org/obo/hp.owl | Pterygium |
| HP:0001528 | http://purl.obolibrary.org/obo/hp.owl | Hemihypertrophy |
| HP:0011228 | http://purl.obolibrary.org/obo/hp.owl | Horizontal eyebrow |
| HP:0000766 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the sternum |
| HP:0001254 | http://purl.obolibrary.org/obo/hp.owl | Lethargy |
| HP:0002360 | http://purl.obolibrary.org/obo/hp.owl | Sleep disturbance |
| HP:0001063 | http://purl.obolibrary.org/obo/hp.owl | Acrocyanosis |
| HP:0001769 | http://purl.obolibrary.org/obo/hp.owl | Broad foot |
| HP:0010280 | http://purl.obolibrary.org/obo/hp.owl | Stomatitis |
| HP:0001288 | http://purl.obolibrary.org/obo/hp.owl | Gait disturbance |
| HP:0008330 | http://purl.obolibrary.org/obo/hp.owl | Reduced von Willebrand factor activity |
| HP:0001954 | http://purl.obolibrary.org/obo/hp.owl | Recurrent fever |
| HP:0004311 | http://purl.obolibrary.org/obo/hp.owl | Abnormal macrophage morphology |
| HP:0012539 | http://purl.obolibrary.org/obo/hp.owl | Non-Hodgkin lymphoma |
| HP:0002074 | http://purl.obolibrary.org/obo/hp.owl | Increased neuronal autofluorescent lipopigment |
| HP:0002973 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the forearm |
| HP:0003203 | http://purl.obolibrary.org/obo/hp.owl | Impaired oxidative burst |
| HP:0003027 | http://purl.obolibrary.org/obo/hp.owl | Mesomelia |
| HP:0002754 | http://purl.obolibrary.org/obo/hp.owl | Osteomyelitis |
| HP:0004431 | http://purl.obolibrary.org/obo/hp.owl | Complement deficiency |
| HP:0001258 | http://purl.obolibrary.org/obo/hp.owl | Spastic paraplegia |
| HP:0012811 | http://purl.obolibrary.org/obo/hp.owl | Wide nasal ridge |
| HP:0011832 | http://purl.obolibrary.org/obo/hp.owl | Narrow nasal tip |
| HP:0000288 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the philtrum |
| HP:0002357 | http://purl.obolibrary.org/obo/hp.owl | Dysphasia |
| HP:0000871 | http://purl.obolibrary.org/obo/hp.owl | Panhypopituitarism |
| HP:0000233 | http://purl.obolibrary.org/obo/hp.owl | Thin vermilion border |
| HP:0003281 | http://purl.obolibrary.org/obo/hp.owl | Increased serum ferritin |
| HP:0010752 | http://purl.obolibrary.org/obo/hp.owl | Cleft mandible |
| HP:0000437 | http://purl.obolibrary.org/obo/hp.owl | Depressed nasal tip |
| HP:0000453 | http://purl.obolibrary.org/obo/hp.owl | Choanal atresia |
| HP:0000863 | http://purl.obolibrary.org/obo/hp.owl | Central diabetes insipidus |
| HP:0000058 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the labia |
| HP:0007418 | http://purl.obolibrary.org/obo/hp.owl | Alopecia totalis |
| HP:0100765 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the tonsils |
| HP:0100747 | http://purl.obolibrary.org/obo/hp.owl | Macrodactyly of toe |
| HP:0002109 | http://purl.obolibrary.org/obo/hp.owl | obsolete Abnormality of the bronchi |
| HP:0011950 | http://purl.obolibrary.org/obo/hp.owl | Bronchiolitis |
| HP:0002850 | http://purl.obolibrary.org/obo/hp.owl | Decreased circulating total IgM |
| HP:0001395 | http://purl.obolibrary.org/obo/hp.owl | Hepatic fibrosis |
| HP:0010701 | http://purl.obolibrary.org/obo/hp.owl | Abnormal immunoglobulin level |
| HP:0009928 | http://purl.obolibrary.org/obo/hp.owl | Thick nasal alae |
| HP:0010807 | http://purl.obolibrary.org/obo/hp.owl | Open bite |
| HP:0002126 | http://purl.obolibrary.org/obo/hp.owl | Polymicrogyria |
| HP:0002900 | http://purl.obolibrary.org/obo/hp.owl | Hypokalemia |
| HP:0000155 | http://purl.obolibrary.org/obo/hp.owl | Oral ulcer |
| HP:0000135 | http://purl.obolibrary.org/obo/hp.owl | Hypogonadism |
| HP:0100783 | http://purl.obolibrary.org/obo/hp.owl | Breast aplasia |
| HP:0000336 | http://purl.obolibrary.org/obo/hp.owl | Prominent supraorbital ridges |
| HP:0010557 | http://purl.obolibrary.org/obo/hp.owl | Overlapping fingers |
| HP:0005100 | http://purl.obolibrary.org/obo/hp.owl | Premature birth following premature rupture of fetal membranes |
| HP:0002594 | http://purl.obolibrary.org/obo/hp.owl | Pancreatic hypoplasia |
| HP:0010109 | http://purl.obolibrary.org/obo/hp.owl | Short hallux |
| HP:0002334 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the cerebellar vermis |
| HP:0003326 | http://purl.obolibrary.org/obo/hp.owl | Myalgia |
| HP:0001645 | http://purl.obolibrary.org/obo/hp.owl | Sudden cardiac death |
| HP:0001612 | http://purl.obolibrary.org/obo/hp.owl | Weak cry |
| HP:0001618 | http://purl.obolibrary.org/obo/hp.owl | Dysphonia |
| HP:0001336 | http://purl.obolibrary.org/obo/hp.owl | Myoclonus |
| HP:0001283 | http://purl.obolibrary.org/obo/hp.owl | Bulbar palsy |
| HP:0002080 | http://purl.obolibrary.org/obo/hp.owl | Intention tremor |
| HP:0002174 | http://purl.obolibrary.org/obo/hp.owl | Postural tremor |
| HP:0002064 | http://purl.obolibrary.org/obo/hp.owl | Spastic gait |
| HP:0009800 | http://purl.obolibrary.org/obo/hp.owl | Maternal diabetes |
| HP:0001662 | http://purl.obolibrary.org/obo/hp.owl | Bradycardia |
| HP:0006595 | http://purl.obolibrary.org/obo/hp.owl | Scapulohumeral synostosis |
| HP:0005815 | http://purl.obolibrary.org/obo/hp.owl | Supernumerary ribs |
| HP:0000307 | http://purl.obolibrary.org/obo/hp.owl | Pointed chin |
| HP:0012371 | http://purl.obolibrary.org/obo/hp.owl | Hyperplasia of midface |
| HP:0002643 | http://purl.obolibrary.org/obo/hp.owl | Neonatal respiratory distress |
| HP:0002093 | http://purl.obolibrary.org/obo/hp.owl | Respiratory insufficiency |
| HP:0010310 | http://purl.obolibrary.org/obo/hp.owl | Chylothorax |
| HP:0006376 | http://purl.obolibrary.org/obo/hp.owl | Limited elbow flexion |
| HP:0006467 | http://purl.obolibrary.org/obo/hp.owl | Limited shoulder movement |
| HP:0010505 | http://purl.obolibrary.org/obo/hp.owl | Limitation of movement at ankles |
| HP:0010501 | http://purl.obolibrary.org/obo/hp.owl | Limitation of knee mobility |
| HP:0009896 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the antitragus |
| HP:0004404 | http://purl.obolibrary.org/obo/hp.owl | Abnormal nipple morphology |
| HP:0011957 | http://purl.obolibrary.org/obo/hp.owl | Abnormal pectoral muscle morphology |
| HP:0000777 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the thymus |
| HP:0000418 | http://purl.obolibrary.org/obo/hp.owl | Narrow nasal ridge |
| HP:0001572 | http://purl.obolibrary.org/obo/hp.owl | Macrodontia |
| HP:0002967 | http://purl.obolibrary.org/obo/hp.owl | Cubitus valgus |
| HP:0000988 | http://purl.obolibrary.org/obo/hp.owl | Skin rash |
| HP:0009733 | http://purl.obolibrary.org/obo/hp.owl | Glioma |
| HP:0012452 | http://purl.obolibrary.org/obo/hp.owl | Restless legs |
| HP:0100031 | http://purl.obolibrary.org/obo/hp.owl | Neoplasm of the thyroid gland |
| HP:0030127 | http://purl.obolibrary.org/obo/hp.owl | Endometriosis |
| HP:0000123 | http://purl.obolibrary.org/obo/hp.owl | Nephritis |
| HP:0001974 | http://purl.obolibrary.org/obo/hp.owl | Leukocytosis |
| HP:0010976 | http://purl.obolibrary.org/obo/hp.owl | B lymphocytopenia |
| HP:0000010 | http://purl.obolibrary.org/obo/hp.owl | Recurrent urinary tract infections |
| HP:0100807 | http://purl.obolibrary.org/obo/hp.owl | Long fingers |
| HP:0000653 | http://purl.obolibrary.org/obo/hp.owl | Sparse eyelashes |
| HP:0000171 | http://purl.obolibrary.org/obo/hp.owl | Microglossia |
| HP:0002575 | http://purl.obolibrary.org/obo/hp.owl | Tracheoesophageal fistula |
| HP:0009933 | http://purl.obolibrary.org/obo/hp.owl | Narrow naris |
| HP:0000883 | http://purl.obolibrary.org/obo/hp.owl | Thin ribs |
| HP:0000121 | http://purl.obolibrary.org/obo/hp.owl | Nephrocalcinosis |
| HP:0001349 | http://purl.obolibrary.org/obo/hp.owl | Facial diplegia |
| HP:0012037 | http://purl.obolibrary.org/obo/hp.owl | Pectoralis amyotrophy |
| HP:0100560 | http://purl.obolibrary.org/obo/hp.owl | Upper limb asymmetry |
| HP:0005684 | http://purl.obolibrary.org/obo/hp.owl | Distal arthrogryposis |
| HP:0010722 | http://purl.obolibrary.org/obo/hp.owl | Asymmetry of the ears |
| HP:0009380 | http://purl.obolibrary.org/obo/hp.owl | Aplasia of the fingers |
| HP:0001657 | http://purl.obolibrary.org/obo/hp.owl | Prolonged QT interval |
| HP:0002040 | http://purl.obolibrary.org/obo/hp.owl | Esophageal varix |
| HP:0000613 | http://purl.obolibrary.org/obo/hp.owl | Photophobia |
| HP:0000561 | http://purl.obolibrary.org/obo/hp.owl | Absent eyelashes |
| HP:0002223 | http://purl.obolibrary.org/obo/hp.owl | Absent eyebrow |
| HP:0002591 | http://purl.obolibrary.org/obo/hp.owl | Polyphagia |
| HP:0002373 | http://purl.obolibrary.org/obo/hp.owl | Febrile seizure (within the age range of 3 months to 6 years) |
| HP:0002419 | http://purl.obolibrary.org/obo/hp.owl | Molar tooth sign on MRI |
| HP:0001010 | http://purl.obolibrary.org/obo/hp.owl | Hypopigmentation of the skin |
| HP:0005772 | http://purl.obolibrary.org/obo/hp.owl | Aplasia/Hypoplasia of the tibia |
| HP:0002211 | http://purl.obolibrary.org/obo/hp.owl | White forelock |
| HP:0007126 | http://purl.obolibrary.org/obo/hp.owl | Proximal amyotrophy |
| HP:0003798 | http://purl.obolibrary.org/obo/hp.owl | Nemaline bodies |
| HP:0006533 | http://purl.obolibrary.org/obo/hp.owl | Bronchodysplasia |
| HP:0003391 | http://purl.obolibrary.org/obo/hp.owl | Gowers sign |
| HP:0000771 | http://purl.obolibrary.org/obo/hp.owl | Gynecomastia |
| HP:0100785 | http://purl.obolibrary.org/obo/hp.owl | Insomnia |
| HP:0010529 | http://purl.obolibrary.org/obo/hp.owl | Echolalia |
| HP:0000363 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of earlobe |
| HP:0002612 | http://purl.obolibrary.org/obo/hp.owl | Congenital hepatic fibrosis |
| HP:0006721 | http://purl.obolibrary.org/obo/hp.owl | Acute lymphoblastic leukemia |
| HP:0001958 | http://purl.obolibrary.org/obo/hp.owl | Nonketotic hypoglycemia |
| HP:0003457 | http://purl.obolibrary.org/obo/hp.owl | EMG abnormality |
| HP:0010636 | http://purl.obolibrary.org/obo/hp.owl | Schizencephaly |
| HP:0005266 | http://purl.obolibrary.org/obo/hp.owl | Intestinal polyp |
| HP:0200063 | http://purl.obolibrary.org/obo/hp.owl | Colorectal polyposis |
| HP:0001762 | http://purl.obolibrary.org/obo/hp.owl | Talipes equinovarus |
| HP:0000056 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the clitoris |
| HP:0008655 | http://purl.obolibrary.org/obo/hp.owl | Aplasia/Hypoplasia of the fallopian tube |
| HP:0002072 | http://purl.obolibrary.org/obo/hp.owl | Chorea |
| HP:0008734 | http://purl.obolibrary.org/obo/hp.owl | Decreased testicular size |
| HP:0002136 | http://purl.obolibrary.org/obo/hp.owl | Broad-based gait |
| HP:0010958 | http://purl.obolibrary.org/obo/hp.owl | Bilateral renal agenesis |
| HP:0002510 | http://purl.obolibrary.org/obo/hp.owl | Spastic tetraplegia |
| HP:0003234 | http://purl.obolibrary.org/obo/hp.owl | Decreased plasma carnitine |
| HP:0000720 | http://purl.obolibrary.org/obo/hp.owl | Mood swings |
| HP:0012638 | http://purl.obolibrary.org/obo/hp.owl | Abnormal nervous system physiology |
| HP:0002803 | http://purl.obolibrary.org/obo/hp.owl | Congenital contracture |
| HP:0000152 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of head or neck |
| HP:0004377 | http://purl.obolibrary.org/obo/hp.owl | Hematological neoplasm |
| HP:0100006 | http://purl.obolibrary.org/obo/hp.owl | Neoplasm of the central nervous system |
| HP:0012759 | http://purl.obolibrary.org/obo/hp.owl | Neurodevelopmental abnormality |
| HP:0011805 | http://purl.obolibrary.org/obo/hp.owl | Abnormal skeletal muscle morphology |
| HP:0003634 | http://purl.obolibrary.org/obo/hp.owl | Amyoplasia |
| HP:0001507 | http://purl.obolibrary.org/obo/hp.owl | Growth abnormality |
| HP:0001939 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of metabolism/homeostasis |
| HP:0011013 | http://purl.obolibrary.org/obo/hp.owl | Abnormal circulating carbohydrate concentration |
| HP:0410008 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the peripheral nervous system |
| HP:0200134 | http://purl.obolibrary.org/obo/hp.owl | Epileptic encephalopathy |
| HP:0001881 | http://purl.obolibrary.org/obo/hp.owl | Abnormal leukocyte morphology |
| HP:0005549 | http://purl.obolibrary.org/obo/hp.owl | obsolete Congenital neutropenia |
| HP:0004439 | http://purl.obolibrary.org/obo/hp.owl | Craniofacial dysostosis |
| HP:0012443 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of brain morphology |
| HP:0000202 | http://purl.obolibrary.org/obo/hp.owl | Oral cleft |
| HP:0011842 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of skeletal morphology |
| HP:0003808 | http://purl.obolibrary.org/obo/hp.owl | Abnormal muscle tone |
| HP:0001574 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the integument |
| HP:0030056 | http://purl.obolibrary.org/obo/hp.owl | Uncombable hair |
| HP:0003549 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of connective tissue |
| HP:0030875 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of pulmonary circulation |
| HP:0000118 | http://purl.obolibrary.org/obo/hp.owl | Phenotypic abnormality |
| HP:0012469 | http://purl.obolibrary.org/obo/hp.owl | Infantile spasms |
| HP:0032894 | http://purl.obolibrary.org/obo/hp.owl | Seizure precipitated by febrile infection |
| HP:0100661 | http://purl.obolibrary.org/obo/hp.owl | Trigeminal neuralgia |
| HP:0012207 | http://purl.obolibrary.org/obo/hp.owl | Reduced sperm motility |
| HP:0000798 | http://purl.obolibrary.org/obo/hp.owl | Oligospermia |
| HP:0012864 | http://purl.obolibrary.org/obo/hp.owl | Abnormal sperm morphology |
| HP:0008232 | http://purl.obolibrary.org/obo/hp.owl | Elevated circulating follicle stimulating hormone level |
| HP:0040306 | http://purl.obolibrary.org/obo/hp.owl | Decreased male libido |
| HP:0012208 | http://purl.obolibrary.org/obo/hp.owl | Immotile sperm |
| HP:0000027 | http://purl.obolibrary.org/obo/hp.owl | Azoospermia |
| HP:0000870 | http://purl.obolibrary.org/obo/hp.owl | Increased circulating prolactin concentration |
| HP:0008187 | http://purl.obolibrary.org/obo/hp.owl | Absence of secondary sex characteristics |
| HP:0010469 | http://purl.obolibrary.org/obo/hp.owl | Absent testis |
| HP:0011969 | http://purl.obolibrary.org/obo/hp.owl | Elevated circulating luteinizing hormone level |
| HP:0040171 | http://purl.obolibrary.org/obo/hp.owl | Decreased serum testosterone level |
| HP:0003251 | http://purl.obolibrary.org/obo/hp.owl | Male infertility |
| HP:0009804 | http://purl.obolibrary.org/obo/hp.owl | Reduced number of teeth |
| HP:0000548 | http://purl.obolibrary.org/obo/hp.owl | Cone/cone-rod dystrophy |
| HP:0000546 | http://purl.obolibrary.org/obo/hp.owl | Retinal degeneration |
| HP:0008002 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of macular pigmentation |
| HP:0000608 | http://purl.obolibrary.org/obo/hp.owl | Macular degeneration |
| HP:0030611 | http://purl.obolibrary.org/obo/hp.owl | Retinal pigment epithelial loss on macular OCT |
| HP:0001135 | http://purl.obolibrary.org/obo/hp.owl | Chorioretinal dystrophy |
| HP:0030468 | http://purl.obolibrary.org/obo/hp.owl | Abnormal multifocal electroretinogram |
| HP:00030532 | http://purl.obolibrary.org/obo/hp.owl | Visual acuity test abnormality |
| HP:0007401 | http://purl.obolibrary.org/obo/hp.owl | Macular atrophy |
| HP:0030466 | http://purl.obolibrary.org/obo/hp.owl | Abnormal full-field electroretinogram |
| HP:007737 | http://purl.obolibrary.org/obo/hp.owl | Bone spicule pigmentation of the retina |
| HP:0011342 | http://purl.obolibrary.org/obo/hp.owl | Mild global developmental delay |
| HP:0030610 | http://purl.obolibrary.org/obo/hp.owl | Photoreceptor outer segment loss on macular OCT |
| HP:0007722 | http://purl.obolibrary.org/obo/hp.owl | Retinal pigment epithelial atrophy |
| HP:0030493 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of foveal pigmentation |
| HP:0007843 | http://purl.obolibrary.org/obo/hp.owl | Attenuation of retinal blood vessels |
| HP:0007754 | http://purl.obolibrary.org/obo/hp.owl | Macular dystrophy |
| HP:0011509 | http://purl.obolibrary.org/obo/hp.owl | Macular hyperpigmentation |
| HP:0008527 | http://purl.obolibrary.org/obo/hp.owl | Congenital sensorineural hearing impairment |
| HP:0200070 | http://purl.obolibrary.org/obo/hp.owl | Peripheral retinal atrophy |
| HP:0007793 | http://purl.obolibrary.org/obo/hp.owl | Granular macular appearance |
| HP:0007987 | http://purl.obolibrary.org/obo/hp.owl | Progressive visual field defects |
| HP:0100817 | http://purl.obolibrary.org/obo/hp.owl | Renovascular hypertension |
| HP:0007868 | http://purl.obolibrary.org/obo/hp.owl | obsolete Age-related macular degeneration |
| HP:0030527 | http://purl.obolibrary.org/obo/hp.owl | Very severe constriction of peripheral visual field |
| HP:0030551 | http://purl.obolibrary.org/obo/hp.owl | Visual acuity light perception with projection |
| HP:0011505 | http://purl.obolibrary.org/obo/hp.owl | Cystoid macular edema |
| HP:0010442 | http://purl.obolibrary.org/obo/hp.owl | Polydactyly |
| HP:0007642 | http://purl.obolibrary.org/obo/hp.owl | Congenital stationary night blindness |
| HP:0009073 | http://purl.obolibrary.org/obo/hp.owl | Progressive proximal muscle weakness |
| HP:0003741 | http://purl.obolibrary.org/obo/hp.owl | Congenital muscular dystrophy |
| HP:0100299 | http://purl.obolibrary.org/obo/hp.owl | Muscle fiber inclusion bodies |
| HP:0003540 | http://purl.obolibrary.org/obo/hp.owl | Impaired platelet aggregation |
| HP:0010489 | http://purl.obolibrary.org/obo/hp.owl | Absent palmar crease |
| HP:0009824 | http://purl.obolibrary.org/obo/hp.owl | Upper limb undergrowth |
| HP:0002395 | http://purl.obolibrary.org/obo/hp.owl | Lower limb hyperreflexia |
| HP:0001138 | http://purl.obolibrary.org/obo/hp.owl | Optic neuropathy |
| HP:0007103 | http://purl.obolibrary.org/obo/hp.owl | Hypointensity of cerebral white matter on MRI |
| HP:0003458 | http://purl.obolibrary.org/obo/hp.owl | EMG: myopathic abnormalities |
| HP:0002987 | http://purl.obolibrary.org/obo/hp.owl | Elbow flexion contracture |
| HP:0006466 | http://purl.obolibrary.org/obo/hp.owl | Ankle flexion contracture |
| HP:0008458 | http://purl.obolibrary.org/obo/hp.owl | Progressive congenital scoliosis |
| HP:0000473 | http://purl.obolibrary.org/obo/hp.owl | Torticollis |
| HP:0011800 | http://purl.obolibrary.org/obo/hp.owl | Midface retrusion |
| HP:0000597 | http://purl.obolibrary.org/obo/hp.owl | Ophthalmoparesis |
| HP:0005853 | http://purl.obolibrary.org/obo/hp.owl | Congenital foot contraction deformities |
| HP:0007002 | http://purl.obolibrary.org/obo/hp.owl | Motor axonal neuropathy |
| HP:0003327 | http://purl.obolibrary.org/obo/hp.owl | Axial muscle weakness |
| HP:0003306 | http://purl.obolibrary.org/obo/hp.owl | Spinal rigidity |
| HP:0002068 | http://purl.obolibrary.org/obo/hp.owl | Neuromuscular dysphagia |
| HP:0001002 | http://purl.obolibrary.org/obo/hp.owl | obsolete Decreased subcutaneous fat |
| HP:0002880 | http://purl.obolibrary.org/obo/hp.owl | obsolete Respiratory difficulties |
| HP:0006829 | http://purl.obolibrary.org/obo/hp.owl | Severe muscular hypotonia |
| HP:0011448 | http://purl.obolibrary.org/obo/hp.owl | Ankle clonus |
| HP:0003487 | http://purl.obolibrary.org/obo/hp.owl | Babinski sign |
| HP:0002378 | http://purl.obolibrary.org/obo/hp.owl | Hand tremor |
| HP:0002747 | http://purl.obolibrary.org/obo/hp.owl | Respiratory insufficiency due to muscle weakness |
| HP:0002579 | http://purl.obolibrary.org/obo/hp.owl | Gastrointestinal dysmotility |
| HP:0001041 | http://purl.obolibrary.org/obo/hp.owl | Facial erythema |
| HP:0040180 | http://purl.obolibrary.org/obo/hp.owl | Hyperkeratosis pilaris |
| HP:0001382 | http://purl.obolibrary.org/obo/hp.owl | Joint hypermobility |
| HP:0003722 | http://purl.obolibrary.org/obo/hp.owl | Neck flexor weakness |
| HP:0003323 | http://purl.obolibrary.org/obo/hp.owl | Progressive muscle weakness |
| HP:0002380 | http://purl.obolibrary.org/obo/hp.owl | Fasciculations |
| HP:0012785 | http://purl.obolibrary.org/obo/hp.owl | Flexion contracture of finger |
| HP:0007936 | http://purl.obolibrary.org/obo/hp.owl | Restrictive external ophthalmoplegia |
| HP:0030319 | http://purl.obolibrary.org/obo/hp.owl | Weakness of facial musculature |
| HP:0008936 | http://purl.obolibrary.org/obo/hp.owl | Muscular hypotonia of the trunk |
| HP:0030230 | http://purl.obolibrary.org/obo/hp.owl | Central core regions in muscle fibers |
| HP:0011471 | http://purl.obolibrary.org/obo/hp.owl | Gastrostomy tube feeding in infancy |
| HP:0001290 | http://purl.obolibrary.org/obo/hp.owl | Generalized hypotonia |
| HP:0002421 | http://purl.obolibrary.org/obo/hp.owl | Poor head control |
| HP:0010301 | http://purl.obolibrary.org/obo/hp.owl | Spinal dysraphism |
| HP:0004303 | http://purl.obolibrary.org/obo/hp.owl | Abnormal muscle fiber morphology |
| HP:0009046 | http://purl.obolibrary.org/obo/hp.owl | Difficulty running |
| HP:0003715 | http://purl.obolibrary.org/obo/hp.owl | Myofibrillar myopathy |
| HP:0000467 | http://purl.obolibrary.org/obo/hp.owl | Neck muscle weakness |
| HP:0001999 | http://purl.obolibrary.org/obo/hp.owl | Abnormal facial shape |
| HP:0002751 | http://purl.obolibrary.org/obo/hp.owl | Kyphoscoliosis |
| HP:0030223 | http://purl.obolibrary.org/obo/hp.owl | Perseveration |
| HP:0002344 | http://purl.obolibrary.org/obo/hp.owl | Progressive neurologic deterioration |
| HP:0002522 | http://purl.obolibrary.org/obo/hp.owl | Areflexia of lower limbs |
| HP:0003805 | http://purl.obolibrary.org/obo/hp.owl | Rimmed vacuoles |
| HP:0005781 | http://purl.obolibrary.org/obo/hp.owl | Contractures of the large joints |
| HP:0040083 | http://purl.obolibrary.org/obo/hp.owl | Toe walking |
| HP:0003749 | http://purl.obolibrary.org/obo/hp.owl | Pelvic girdle muscle weakness |
| HP:0012444 | http://purl.obolibrary.org/obo/hp.owl | Brain atrophy |
| HP:0003738 | http://purl.obolibrary.org/obo/hp.owl | Exercise-induced myalgia |
| HP:0003756 | http://purl.obolibrary.org/obo/hp.owl | Skeletal myopathy |
| HP:0002492 | http://purl.obolibrary.org/obo/hp.owl | Morphological abnormality of the corticospinal tract |
| HP:0100302 | http://purl.obolibrary.org/obo/hp.owl | Muscle fiber tubuloreticular inclusions |
| HP:0006817 | http://purl.obolibrary.org/obo/hp.owl | Aplasia/Hypoplasia of the cerebellar vermis |
| HP:0003473 | http://purl.obolibrary.org/obo/hp.owl | Fatigable weakness |
| HP:0002077 | http://purl.obolibrary.org/obo/hp.owl | Migraine with aura |
| HP:0100559 | http://purl.obolibrary.org/obo/hp.owl | Lower limb asymmetry |
| HP:0002079 | http://purl.obolibrary.org/obo/hp.owl | Hypoplasia of the corpus callosum |
| HP:0002804 | http://purl.obolibrary.org/obo/hp.owl | Arthrogryposis multiplex congenita |
| HP:0011623 | http://purl.obolibrary.org/obo/hp.owl | Muscular ventricular septal defect |
| HP:0002191 | http://purl.obolibrary.org/obo/hp.owl | Progressive spasticity |
| HP:0003390 | http://purl.obolibrary.org/obo/hp.owl | Sensory axonal neuropathy |
| HP:0006986 | http://purl.obolibrary.org/obo/hp.owl | Upper limb spasticity |
| HP:0002464 | http://purl.obolibrary.org/obo/hp.owl | Spastic dysarthria |
| HP:0001308 | http://purl.obolibrary.org/obo/hp.owl | Tongue fasciculations |
| HP:0007010 | http://purl.obolibrary.org/obo/hp.owl | Poor fine motor coordination |
| HP:0003737 | http://purl.obolibrary.org/obo/hp.owl | Mitochondrial myopathy |
| HP:0008012 | http://purl.obolibrary.org/obo/hp.owl | obsolete Congenital myopia |
| HP:0008872 | http://purl.obolibrary.org/obo/hp.owl | Feeding difficulties in infancy |
| HP:0005750 | http://purl.obolibrary.org/obo/hp.owl | Contractures of the joints of the lower limbs |
| HP:0009067 | http://purl.obolibrary.org/obo/hp.owl | Progressive spinal muscular atrophy |
| HP:0001623 | http://purl.obolibrary.org/obo/hp.owl | Breech presentation |
| HP:0001374 | http://purl.obolibrary.org/obo/hp.owl | Congenital hip dislocation |
| HP:0002359 | http://purl.obolibrary.org/obo/hp.owl | Frequent falls |
| HP:0003803 | http://purl.obolibrary.org/obo/hp.owl | Type 1 muscle fiber predominance |
| HP:0011410 | http://purl.obolibrary.org/obo/hp.owl | Caesarian section |
| HP:0008947 | http://purl.obolibrary.org/obo/hp.owl | Infantile muscular hypotonia |
| HP:0100501 | http://purl.obolibrary.org/obo/hp.owl | Recurrent bronchiolitis |
| HP:0003789 | http://purl.obolibrary.org/obo/hp.owl | Minicore myopathy |
| HP:0000544 | http://purl.obolibrary.org/obo/hp.owl | External ophthalmoplegia |
| HP:0001605 | http://purl.obolibrary.org/obo/hp.owl | Vocal cord paralysis |
| HP:0003712 | http://purl.obolibrary.org/obo/hp.owl | Skeletal muscle hypertrophy |
| HP:0012507 | http://purl.obolibrary.org/obo/hp.owl | Weakness of orbicularis oculi muscle |
| HP:0009816 | http://purl.obolibrary.org/obo/hp.owl | Lower limb undergrowth |
| HP:0008935 | http://purl.obolibrary.org/obo/hp.owl | Generalized neonatal hypotonia |
| HP:0003484 | http://purl.obolibrary.org/obo/hp.owl | Upper limb muscle weakness |
| HP:0008331 | http://purl.obolibrary.org/obo/hp.owl | Elevated creatine kinase after exercise |
| HP:0001315 | http://purl.obolibrary.org/obo/hp.owl | Reduced tendon reflexes |
| HP:0012473 | http://purl.obolibrary.org/obo/hp.owl | Tongue atrophy |
| HP:0003273 | http://purl.obolibrary.org/obo/hp.owl | Hip contracture |
| HP:0006380 | http://purl.obolibrary.org/obo/hp.owl | Knee flexion contracture |
| HP:0003752 | http://purl.obolibrary.org/obo/hp.owl | Episodic flaccid weakness |
| HP:0100298 | http://purl.obolibrary.org/obo/hp.owl | Motheaten muscle fibers |
| HP:0003693 | http://purl.obolibrary.org/obo/hp.owl | Distal amyotrophy |
| HP:0002167 | http://purl.obolibrary.org/obo/hp.owl | Neurological speech impairment |
| HP:0003388 | http://purl.obolibrary.org/obo/hp.owl | Easy fatigability |
| HP:0001348 | http://purl.obolibrary.org/obo/hp.owl | Brisk reflexes |
| HP:0003445 | http://purl.obolibrary.org/obo/hp.owl | EMG: neuropathic changes |
| HP:0009063 | http://purl.obolibrary.org/obo/hp.owl | Progressive distal muscle weakness |
| HP:0003720 | http://purl.obolibrary.org/obo/hp.owl | Generalized muscle hypertrophy |
| HP:0002493 | http://purl.obolibrary.org/obo/hp.owl | Upper motor neuron dysfunction |
| HP:0012448 | http://purl.obolibrary.org/obo/hp.owl | Delayed myelination |
| HP:0001338 | http://purl.obolibrary.org/obo/hp.owl | Partial agenesis of the corpus callosum |
| HP:0006879 | http://purl.obolibrary.org/obo/hp.owl | Pontocerebellar atrophy |
| HP:0200101 | http://purl.obolibrary.org/obo/hp.owl | Decreased/absent ankle reflexes |
| HP:0009020 | http://purl.obolibrary.org/obo/hp.owl | Exercise-induced muscle fatigue |
| HP:0002067 | http://purl.obolibrary.org/obo/hp.owl | Bradykinesia |
| HP:0012751 | http://purl.obolibrary.org/obo/hp.owl | Abnormal basal ganglia MRI signal intensity |
| HP:0003355 | http://purl.obolibrary.org/obo/hp.owl | Aminoaciduria |
| HP:0012450 | http://purl.obolibrary.org/obo/hp.owl | Chronic constipation |
| HP:0011834 | http://purl.obolibrary.org/obo/hp.owl | Moyamoya phenomenon |
| HP:0001297 | http://purl.obolibrary.org/obo/hp.owl | Stroke |
| HP:0200049 | http://purl.obolibrary.org/obo/hp.owl | Upper limb hypertonia |
| HP:0008981 | http://purl.obolibrary.org/obo/hp.owl | Calf muscle hypertrophy |
| HP:0006785 | http://purl.obolibrary.org/obo/hp.owl | Limb-girdle muscular dystrophy |
| HP:0006957 | http://purl.obolibrary.org/obo/hp.owl | Loss of ability to walk |
| HP:0030098 | http://purl.obolibrary.org/obo/hp.owl | Reduced muscle dystrophin expression |
| HP:0030115 | http://purl.obolibrary.org/obo/hp.owl | Reduced muscle fiber dysferlin |
| HP:0002058 | http://purl.obolibrary.org/obo/hp.owl | Myopathic facies |
| HP:0007858 | http://purl.obolibrary.org/obo/hp.owl | Chorioretinal lacunae |
| HP:0006657 | http://purl.obolibrary.org/obo/hp.owl | Hypoplasia of first ribs |
| HP:0007165 | http://purl.obolibrary.org/obo/hp.owl | Periventricular heterotopia |
| HP:0009779 | http://purl.obolibrary.org/obo/hp.owl | 3-4 toe syndactyly |
| HP:0010665 | http://purl.obolibrary.org/obo/hp.owl | Bilateral coxa valga |
| HP:0007598 | http://purl.obolibrary.org/obo/hp.owl | Bilateral single transverse palmar creases |
| HP:0006101 | http://purl.obolibrary.org/obo/hp.owl | Finger syndactyly |
| HP:0010511 | http://purl.obolibrary.org/obo/hp.owl | Long toe |
| HP:0002370 | http://purl.obolibrary.org/obo/hp.owl | Poor coordination |
| HP:0000480 | http://purl.obolibrary.org/obo/hp.owl | Retinal coloboma |
| HP:0001770 | http://purl.obolibrary.org/obo/hp.owl | Toe syndactyly |
| HP:0010851 | http://purl.obolibrary.org/obo/hp.owl | EEG with burst suppression |
| HP:0002791 | http://purl.obolibrary.org/obo/hp.owl | Hypoventilation |
| HP:0040075 | http://purl.obolibrary.org/obo/hp.owl | Hypopituitarism |
| HP:0012506 | http://purl.obolibrary.org/obo/hp.owl | Small pituitary gland |
| HP:0000538 | http://purl.obolibrary.org/obo/hp.owl | Pseudopapilledema |
| HP:0012717 | http://purl.obolibrary.org/obo/hp.owl | Severe conductive hearing impairment |
| HP:0001370 | http://purl.obolibrary.org/obo/hp.owl | Rheumatoid arthritis |
| HP:0000016 | http://purl.obolibrary.org/obo/hp.owl | Urinary retention |
| HP:0012537 | http://purl.obolibrary.org/obo/hp.owl | Food intolerance |
| HP:0011297 | http://purl.obolibrary.org/obo/hp.owl | Abnormal digit morphology |
| HP:0001273 | http://purl.obolibrary.org/obo/hp.owl | Abnormal corpus callosum morphology |
| HP:0030148 | http://purl.obolibrary.org/obo/hp.owl | Heart murmur |
| HP:0045018 | http://purl.obolibrary.org/obo/hp.owl | Partial duplication of eyebrows |
| HP:0008998 | http://purl.obolibrary.org/obo/hp.owl | Pectoralis hypoplasia |
| HP:0001707 | http://purl.obolibrary.org/obo/hp.owl | Abnormal right ventricle morphology |
| HP:0001540 | http://purl.obolibrary.org/obo/hp.owl | Diastasis recti |
| HP:0100693 | http://purl.obolibrary.org/obo/hp.owl | Iridodonesis |
| HP:0002265 | http://purl.obolibrary.org/obo/hp.owl | Large fleshy ears |
| HP:0001132 | http://purl.obolibrary.org/obo/hp.owl | Lens subluxation |
| HP:0004927 | http://purl.obolibrary.org/obo/hp.owl | Pulmonary artery dilatation |
| HP:0005619 | http://purl.obolibrary.org/obo/hp.owl | Thoracolumbar kyphosis |
| HP:0008619 | http://purl.obolibrary.org/obo/hp.owl | Bilateral sensorineural hearing impairment |
| HP:0001045 | http://purl.obolibrary.org/obo/hp.owl | Vitiligo |
| HP:0009124 | http://purl.obolibrary.org/obo/hp.owl | Abnormal adipose tissue morphology |
| HP:0002979 | http://purl.obolibrary.org/obo/hp.owl | Bowing of the legs |
| HP:0000455 | http://purl.obolibrary.org/obo/hp.owl | Broad nasal tip |
| HP:0001007 | http://purl.obolibrary.org/obo/hp.owl | Hirsutism |
| HP:0010314 | http://purl.obolibrary.org/obo/hp.owl | Premature thelarche |
| HP:0000075 | http://purl.obolibrary.org/obo/hp.owl | Renal duplication |
| HP:0000368 | http://purl.obolibrary.org/obo/hp.owl | Low-set, posteriorly rotated ears |
| HP:0001052 | http://purl.obolibrary.org/obo/hp.owl | Nevus flammeus |
| HP:0200048 | http://purl.obolibrary.org/obo/hp.owl | Cyanotic episode |
| HP:0001902 | http://purl.obolibrary.org/obo/hp.owl | Giant platelets |
| HP:0030043 | http://purl.obolibrary.org/obo/hp.owl | Hip subluxation |
| HP:0002938 | http://purl.obolibrary.org/obo/hp.owl | Lumbar hyperlordosis |
| HP:0030084 | http://purl.obolibrary.org/obo/hp.owl | Clinodactyly |
| HP:0005560 | http://purl.obolibrary.org/obo/hp.owl | Imbalanced hemoglobin synthesis |
| HP:0001539 | http://purl.obolibrary.org/obo/hp.owl | Omphalocele |
| HP:0009778 | http://purl.obolibrary.org/obo/hp.owl | Short thumb |
| HP:0002277 | http://purl.obolibrary.org/obo/hp.owl | Horner syndrome |
| HP:0011701 | http://purl.obolibrary.org/obo/hp.owl | Multifocal atrial tachycardia |
| HP:0005274 | http://purl.obolibrary.org/obo/hp.owl | Prominent nasal tip |
| HP:0001262 | http://purl.obolibrary.org/obo/hp.owl | Excessive daytime somnolence |
| HP:0001285 | http://purl.obolibrary.org/obo/hp.owl | Spastic tetraparesis |
| HP:0012171 | http://purl.obolibrary.org/obo/hp.owl | Stereotypical hand wringing |
| HP:0002518 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the periventricular white matter |
| HP:0005692 | http://purl.obolibrary.org/obo/hp.owl | Joint hyperflexibility |
| HP:0007440 | http://purl.obolibrary.org/obo/hp.owl | Generalized hyperpigmentation |
| HP:0001805 | http://purl.obolibrary.org/obo/hp.owl | Onychogryposis |
| HP:0011945 | http://purl.obolibrary.org/obo/hp.owl | Bronchiolitis obliterans organizing pneumonia |
| HP:0003763 | http://purl.obolibrary.org/obo/hp.owl | Bruxism |
| HP:0010500 | http://purl.obolibrary.org/obo/hp.owl | Hyperextensibility of the knee |
| HP:0040115 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the Eustachian tube |
| HP:0008751 | http://purl.obolibrary.org/obo/hp.owl | Laryngeal cleft |
| HP:0000403 | http://purl.obolibrary.org/obo/hp.owl | Recurrent otitis media |
| HP:0001787 | http://purl.obolibrary.org/obo/hp.owl | Abnormal delivery |
| HP:0002571 | http://purl.obolibrary.org/obo/hp.owl | Achalasia |
| HP:0002615 | http://purl.obolibrary.org/obo/hp.owl | Hypotension |
| HP:0003550 | http://purl.obolibrary.org/obo/hp.owl | Predominantly lower limb lymphedema |
| HP:0030363 | http://purl.obolibrary.org/obo/hp.owl | Primary Caesarian section |
| HP:0001727 | http://purl.obolibrary.org/obo/hp.owl | Thromboembolic stroke |
| HP:0100603 | http://purl.obolibrary.org/obo/hp.owl | Toxemia of pregnancy |
| HP:0010836 | http://purl.obolibrary.org/obo/hp.owl | Abnormal circulating copper concentration |
| HP:0000356 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the outer ear |
| HP:0002197 | http://purl.obolibrary.org/obo/hp.owl | Generalized-onset seizure |
| HP:0011436 | http://purl.obolibrary.org/obo/hp.owl | Abnormal maternal serum screening |
| HP:0003517 | http://purl.obolibrary.org/obo/hp.owl | Birth length greater than 97th percentile |
| HP:0003561 | http://purl.obolibrary.org/obo/hp.owl | Birth length less than 3rd percentile |
| HP:0012188 | http://purl.obolibrary.org/obo/hp.owl | Hyperemesis gravidarum |
| HP:0010519 | http://purl.obolibrary.org/obo/hp.owl | Increased fetal movement |
| HP:0030244 | http://purl.obolibrary.org/obo/hp.owl | Maternal fever in pregnancy |
| HP:0008071 | http://purl.obolibrary.org/obo/hp.owl | Maternal hypertension |
| HP:0100622 | http://purl.obolibrary.org/obo/hp.owl | Maternal seizure |
| HP:0011438 | http://purl.obolibrary.org/obo/hp.owl | Maternal teratogenic exposure |
| HP:0001998 | http://purl.obolibrary.org/obo/hp.owl | Neonatal hypoglycemia |
| HP:0040187 | http://purl.obolibrary.org/obo/hp.owl | Neonatal sepsis |
| HP:0002033 | http://purl.obolibrary.org/obo/hp.owl | Poor suck |
| HP:0006579 | http://purl.obolibrary.org/obo/hp.owl | Prolonged neonatal jaundice |
| HP:0001724 | http://purl.obolibrary.org/obo/hp.owl | obsolete Aortic dilatation |
| HP:0010621 | http://purl.obolibrary.org/obo/hp.owl | Cutaneous syndactyly of toes |
| HP:0001880 | http://purl.obolibrary.org/obo/hp.owl | Eosinophilia |
| HP:0000162 | http://purl.obolibrary.org/obo/hp.owl | Glossoptosis |
| HP:0100578 | http://purl.obolibrary.org/obo/hp.owl | Lipoatrophy |
| HP:0002562 | http://purl.obolibrary.org/obo/hp.owl | Low-set nipples |
| HP:0012893 | http://purl.obolibrary.org/obo/hp.owl | Neck muscle hypertrophy |
| HP:0001027 | http://purl.obolibrary.org/obo/hp.owl | Soft, doughy skin |
| HP:0100738 | http://purl.obolibrary.org/obo/hp.owl | Abnormal eating behavior |
| HP:0007328 | http://purl.obolibrary.org/obo/hp.owl | Impaired pain sensation |
| HP:0002878 | http://purl.obolibrary.org/obo/hp.owl | Respiratory failure |
| HP:0001776 | http://purl.obolibrary.org/obo/hp.owl | Bilateral talipes equinovarus |
| HP:0001360 | http://purl.obolibrary.org/obo/hp.owl | Holoprosencephaly |
| HP:0001973 | http://purl.obolibrary.org/obo/hp.owl | Autoimmune thrombocytopenia |
| HP:0100749 | http://purl.obolibrary.org/obo/hp.owl | Chest pain |
| HP:0012531 | http://purl.obolibrary.org/obo/hp.owl | Pain |
| HP:0007585 | http://purl.obolibrary.org/obo/hp.owl | Skin fragility with non-scarring blistering |
| HP:0002108 | http://purl.obolibrary.org/obo/hp.owl | Spontaneous pneumothorax |
| HP:0006562 | http://purl.obolibrary.org/obo/hp.owl | Viral hepatitis |
| HP:0012647 | http://purl.obolibrary.org/obo/hp.owl | Abnormal inflammatory response |
| HP:0012088 | http://purl.obolibrary.org/obo/hp.owl | Abnormal urinary odor |
| HP:0011458 | http://purl.obolibrary.org/obo/hp.owl | Abdominal symptom |
| HP:0002829 | http://purl.obolibrary.org/obo/hp.owl | Arthralgia |
| HP:0010783 | http://purl.obolibrary.org/obo/hp.owl | Erythema |
| HP:0010307 | http://purl.obolibrary.org/obo/hp.owl | Stridor |
| HP:0001269 | http://purl.obolibrary.org/obo/hp.owl | Hemiparesis |
| HP:0006532 | http://purl.obolibrary.org/obo/hp.owl | Recurrent pneumonia |
| HP:0002580 | http://purl.obolibrary.org/obo/hp.owl | Volvulus |
| HP:0012387 | http://purl.obolibrary.org/obo/hp.owl | Bronchitis |
| HP:0001266 | http://purl.obolibrary.org/obo/hp.owl | Choreoathetosis |
| HP:0001531 | http://purl.obolibrary.org/obo/hp.owl | Failure to thrive in infancy |
| HP:0011470 | http://purl.obolibrary.org/obo/hp.owl | Nasogastric tube feeding in infancy |
| HP:0001361 | http://purl.obolibrary.org/obo/hp.owl | Nystagmus-induced head nodding |
| HP:0001997 | http://purl.obolibrary.org/obo/hp.owl | Gout |
| HP:0000965 | http://purl.obolibrary.org/obo/hp.owl | Cutis marmorata |
| HP:0010316 | http://purl.obolibrary.org/obo/hp.owl | Ebstein anomaly of the tricuspid valve |
| HP:0010543 | http://purl.obolibrary.org/obo/hp.owl | Opsoclonus |
| HP:0007704 | http://purl.obolibrary.org/obo/hp.owl | Paroxysmal involuntary eye movements |
| HP:0030364 | http://purl.obolibrary.org/obo/hp.owl | Secondary Caesarian section |
| HP:0007738 | http://purl.obolibrary.org/obo/hp.owl | Uncontrolled eye movements |
| HP:0030366 | http://purl.obolibrary.org/obo/hp.owl | Delivery by Odon device |
| HP:0011411 | http://purl.obolibrary.org/obo/hp.owl | Forceps delivery |
| HP:0030369 | http://purl.obolibrary.org/obo/hp.owl | Induced vaginal delivery |
| HP:0005268 | http://purl.obolibrary.org/obo/hp.owl | Spontaneous abortion |
| HP:0030365 | http://purl.obolibrary.org/obo/hp.owl | Vaginal birth after Caesarian |
| HP:0011412 | http://purl.obolibrary.org/obo/hp.owl | Ventouse delivery |
| HP:0002572 | http://purl.obolibrary.org/obo/hp.owl | Episodic vomiting |
| HP:0030350 | http://purl.obolibrary.org/obo/hp.owl | Erythematous papule |
| HP:0001386 | http://purl.obolibrary.org/obo/hp.owl | Joint swelling |
| HP:0000147 | http://purl.obolibrary.org/obo/hp.owl | Polycystic ovaries |
| HP:0012412 | http://purl.obolibrary.org/obo/hp.owl | Premature adrenarche |
| HP:0004411 | http://purl.obolibrary.org/obo/hp.owl | Deviated nasal septum |
| HP:0040183 | http://purl.obolibrary.org/obo/hp.owl | Encopresis |
| HP:0100507 | http://purl.obolibrary.org/obo/hp.owl | Reduced blood folate concentration |
| HP:0007011 | http://purl.obolibrary.org/obo/hp.owl | Fourth cranial nerve palsy |
| HP:0000375 | http://purl.obolibrary.org/obo/hp.owl | Abnormal cochlea morphology |
| HP:0009911 | http://purl.obolibrary.org/obo/hp.owl | Abnormal temporal bone morphology |
| HP:0000081 | http://purl.obolibrary.org/obo/hp.owl | Duplicated collecting system |
| HP:0006894 | http://purl.obolibrary.org/obo/hp.owl | Hypoplastic olfactory lobes |
| HP:0011380 | http://purl.obolibrary.org/obo/hp.owl | Morphological abnormality of the semicircular canal |
| HP:0000110 | http://purl.obolibrary.org/obo/hp.owl | Renal dysplasia |
| HP:0030025 | http://purl.obolibrary.org/obo/hp.owl | Auricular pit |
| HP:0010044 | http://purl.obolibrary.org/obo/hp.owl | Short 4th metacarpal |
| HP:0010047 | http://purl.obolibrary.org/obo/hp.owl | Short 5th metacarpal |
| HP:0000201 | http://purl.obolibrary.org/obo/hp.owl | Pierre-Robin sequence |
| HP:0100837 | http://purl.obolibrary.org/obo/hp.owl | Atrophodermia vermiculata |
| HP:0002673 | http://purl.obolibrary.org/obo/hp.owl | Coxa valga |
| HP:0001476 | http://purl.obolibrary.org/obo/hp.owl | Delayed closure of the anterior fontanelle |
| HP:0011069 | http://purl.obolibrary.org/obo/hp.owl | Increased number of teeth |
| HP:0009879 | http://purl.obolibrary.org/obo/hp.owl | Simplified gyral pattern |
| HP:0006315 | http://purl.obolibrary.org/obo/hp.owl | Single median maxillary incisor |
| HP:0001194 | http://purl.obolibrary.org/obo/hp.owl | Abnormalities of placenta or umbilical cord |
| HP:0100767 | http://purl.obolibrary.org/obo/hp.owl | Abnormal placenta morphology |
| HP:0006543 | http://purl.obolibrary.org/obo/hp.owl | Cardiorespiratory arrest |
| HP:0003074 | http://purl.obolibrary.org/obo/hp.owl | Hyperglycemia |
| HP:0000842 | http://purl.obolibrary.org/obo/hp.owl | Hyperinsulinemia |
| HP:0011951 | http://purl.obolibrary.org/obo/hp.owl | Aspiration pneumonia |
| HP:0006528 | http://purl.obolibrary.org/obo/hp.owl | Chronic lung disease |
| HP:0002383 | http://purl.obolibrary.org/obo/hp.owl | Encephalitis |
| HP:0000388 | http://purl.obolibrary.org/obo/hp.owl | Otitis media |
| HP:0002530 | http://purl.obolibrary.org/obo/hp.owl | Axial dystonia |
| HP:0002780 | http://purl.obolibrary.org/obo/hp.owl | Bronchomalacia |
| HP:0008755 | http://purl.obolibrary.org/obo/hp.owl | Laryngotracheomalacia |
| HP:0000308 | http://purl.obolibrary.org/obo/hp.owl | Microretrognathia |
| HP:0002786 | http://purl.obolibrary.org/obo/hp.owl | Tracheobronchomalacia |
| HP:0012389 | http://purl.obolibrary.org/obo/hp.owl | Appendicular hypotonia |
| HP:0011323 | http://purl.obolibrary.org/obo/hp.owl | Cleft of chin |
| HP:0000417 | http://purl.obolibrary.org/obo/hp.owl | Slender nose |
| HP:0001863 | http://purl.obolibrary.org/obo/hp.owl | Toe clinodactyly |
| HP:0008386 | http://purl.obolibrary.org/obo/hp.owl | Aplasia/Hypoplasia of the nails |
| HP:0006989 | http://purl.obolibrary.org/obo/hp.owl | Dysplastic corpus callosum |
| HP:0100954 | http://purl.obolibrary.org/obo/hp.owl | Open operculum |
| HP:0004482 | http://purl.obolibrary.org/obo/hp.owl | Relative macrocephaly |
| HP:3000033 | http://purl.obolibrary.org/obo/hp.owl | Abnormal nasopharyngeal adenoid morphology |
| HP:0009062 | http://purl.obolibrary.org/obo/hp.owl | Infantile axial hypotonia |
| HP:0002189 | http://purl.obolibrary.org/obo/hp.owl | obsolete Excessive daytime sleepiness |
| HP:0002141 | http://purl.obolibrary.org/obo/hp.owl | Gait imbalance |
| HP:0012734 | http://purl.obolibrary.org/obo/hp.owl | Ketotic hypoglycemia |
| HP:0005968 | http://purl.obolibrary.org/obo/hp.owl | Temperature instability |
| HP:0012538 | http://purl.obolibrary.org/obo/hp.owl | Gluten intolerance |
| HP:0000979 | http://purl.obolibrary.org/obo/hp.owl | Purpura |
| HP:0001988 | http://purl.obolibrary.org/obo/hp.owl | Recurrent hypoglycemia |
| HP:0001488 | http://purl.obolibrary.org/obo/hp.owl | Bilateral ptosis |
| HP:0011229 | http://purl.obolibrary.org/obo/hp.owl | Broad eyebrow |
| HP:0004440 | http://purl.obolibrary.org/obo/hp.owl | Coronal craniosynostosis |
| HP:0004453 | http://purl.obolibrary.org/obo/hp.owl | Overfolding of the superior helices |
| HP:0012547 | http://purl.obolibrary.org/obo/hp.owl | Abnormal involuntary eye movements |
| HP:0100814 | http://purl.obolibrary.org/obo/hp.owl | Blue nevus |
| HP:0010751 | http://purl.obolibrary.org/obo/hp.owl | Dimple chin |
| HP:0007087 | http://purl.obolibrary.org/obo/hp.owl | obsolete Involuntary jerking movements |
| HP:0012498 | http://purl.obolibrary.org/obo/hp.owl | Nuchal cord |
| HP:0002472 | http://purl.obolibrary.org/obo/hp.owl | Small cerebral cortex |
| HP:0100307 | http://purl.obolibrary.org/obo/hp.owl | Cerebellar hemisphere hypoplasia |
| HP:0002151 | http://purl.obolibrary.org/obo/hp.owl | Increased serum lactate |
| HP:0001698 | http://purl.obolibrary.org/obo/hp.owl | Pericardial effusion |
| HP:0006903 | http://purl.obolibrary.org/obo/hp.owl | Congenital peripheral neuropathy |
| HP:0006895 | http://purl.obolibrary.org/obo/hp.owl | Lower limb hypertonia |
| HP:0002744 | http://purl.obolibrary.org/obo/hp.owl | Bilateral cleft lip and palate |
| HP:0010664 | http://purl.obolibrary.org/obo/hp.owl | Fusion of the left and right thalami |
| HP:0000327 | http://purl.obolibrary.org/obo/hp.owl | Hypoplasia of the maxilla |
| HP:0000474 | http://purl.obolibrary.org/obo/hp.owl | Thickened nuchal skin fold |
| HP:0000105 | http://purl.obolibrary.org/obo/hp.owl | Enlarged kidney |
| HP:0000113 | http://purl.obolibrary.org/obo/hp.owl | Polycystic kidney dysplasia |
| HP:0000104 | http://purl.obolibrary.org/obo/hp.owl | Renal agenesis |
| HP:0001362 | http://purl.obolibrary.org/obo/hp.owl | Calvarial skull defect |
| HP:0008245 | http://purl.obolibrary.org/obo/hp.owl | Pituitary hypothyroidism |
| HP:0001552 | http://purl.obolibrary.org/obo/hp.owl | Barrel-shaped chest |
| HP:0006297 | http://purl.obolibrary.org/obo/hp.owl | Hypoplasia of dental enamel |
| HP:0100023 | http://purl.obolibrary.org/obo/hp.owl | Recurrent hand flapping |
| HP:0005518 | http://purl.obolibrary.org/obo/hp.owl | Increased mean corpuscular volume |
| HP:0012418 | http://purl.obolibrary.org/obo/hp.owl | Hypoxemia |
| HP:0100259 | http://purl.obolibrary.org/obo/hp.owl | Postaxial polydactyly |
| HP:0010814 | http://purl.obolibrary.org/obo/hp.owl | Abnormal position of hair whorl |
| HP:0003764 | http://purl.obolibrary.org/obo/hp.owl | Nevus |
| HP:0000445 | http://purl.obolibrary.org/obo/hp.owl | Wide nose |
| HP:0010677 | http://purl.obolibrary.org/obo/hp.owl | Enuresis nocturna |
| HP:0001510 | http://purl.obolibrary.org/obo/hp.owl | Growth delay |
| HP:0012428 | http://purl.obolibrary.org/obo/hp.owl | Prominent calcaneus |
| HP:0012471 | http://purl.obolibrary.org/obo/hp.owl | Thick vermilion border |
| HP:0007110 | http://purl.obolibrary.org/obo/hp.owl | Central hypoventilation |
| HP:0010614 | http://purl.obolibrary.org/obo/hp.owl | Fibroma |
| HP:0001034 | http://purl.obolibrary.org/obo/hp.owl | Hypermelanotic macule |
| HP:0011365 | http://purl.obolibrary.org/obo/hp.owl | Patchy hypopigmentation of hair |
| HP:0001920 | http://purl.obolibrary.org/obo/hp.owl | Renal artery stenosis |
| HP:0002828 | http://purl.obolibrary.org/obo/hp.owl | Multiple joint contractures |
| HP:0002144 | http://purl.obolibrary.org/obo/hp.owl | Tethered cord |
| HP:0010964 | http://purl.obolibrary.org/obo/hp.owl | Abnormal circulating long-chain fatty-acid concentration |
| HP:0010536 | http://purl.obolibrary.org/obo/hp.owl | Central sleep apnea |
| HP:0011262 | http://purl.obolibrary.org/obo/hp.owl | Crimped helix |
| HP:0040079 | http://purl.obolibrary.org/obo/hp.owl | Irregular dentition |
| HP:0011481 | http://purl.obolibrary.org/obo/hp.owl | Abnormal lacrimal duct morphology |
| HP:0000220 | http://purl.obolibrary.org/obo/hp.owl | Velopharyngeal insufficiency |
| HP:0002153 | http://purl.obolibrary.org/obo/hp.owl | Hyperkalemia |
| HP:0002148 | http://purl.obolibrary.org/obo/hp.owl | Hypophosphatemia |
| HP:0012621 | http://purl.obolibrary.org/obo/hp.owl | Persistent cloaca |
| HP:0000867 | http://purl.obolibrary.org/obo/hp.owl | Secondary hyperparathyroidism |
| HP:0003762 | http://purl.obolibrary.org/obo/hp.owl | Uterus didelphys |
| HP:0100512 | http://purl.obolibrary.org/obo/hp.owl | Low levels of vitamin D |
| HP:0012156 | http://purl.obolibrary.org/obo/hp.owl | Hemophagocytosis |
| HP:0008209 | http://purl.obolibrary.org/obo/hp.owl | Premature ovarian insufficiency |
| HP:0004349 | http://purl.obolibrary.org/obo/hp.owl | Reduced bone mineral density |
| HP:0001924 | http://purl.obolibrary.org/obo/hp.owl | Sideroblastic anemia |
| HP:0011703 | http://purl.obolibrary.org/obo/hp.owl | Sinus tachycardia |
| HP:0010609 | http://purl.obolibrary.org/obo/hp.owl | Skin tags |
| HP:0002725 | http://purl.obolibrary.org/obo/hp.owl | Systemic lupus erythematosus |
| HP:0003193 | http://purl.obolibrary.org/obo/hp.owl | Allergic rhinitis |
| HP:0006896 | http://purl.obolibrary.org/obo/hp.owl | Hypnopompic hallucinations |
| HP:0002524 | http://purl.obolibrary.org/obo/hp.owl | Cataplexy |
| HP:0005227 | http://purl.obolibrary.org/obo/hp.owl | Adenomatous colonic polyposis |
| HP:0012173 | http://purl.obolibrary.org/obo/hp.owl | Orthostatic tachycardia |
| HP:0001271 | http://purl.obolibrary.org/obo/hp.owl | Polyneuropathy |
| HP:0009120 | http://purl.obolibrary.org/obo/hp.owl | Aplasia/Hypoplasia involving the sinuses |
| HP:0000625 | http://purl.obolibrary.org/obo/hp.owl | Eyelid coloboma |
| HP:0009754 | http://purl.obolibrary.org/obo/hp.owl | Fibrous syngnathia |
| HP:0012478 | http://purl.obolibrary.org/obo/hp.owl | Temporomandibular joint ankylosis |
| HP:0001233 | http://purl.obolibrary.org/obo/hp.owl | 2-3 finger syndactyly |
| HP:0000811 | http://purl.obolibrary.org/obo/hp.owl | Abnormal external genitalia |
| HP:0005120 | http://purl.obolibrary.org/obo/hp.owl | Abnormal cardiac atrium morphology |
| HP:0008388 | http://purl.obolibrary.org/obo/hp.owl | Abnormal toenail morphology |
| HP:0011467 | http://purl.obolibrary.org/obo/hp.owl | Absent gallbladder |
| HP:0010760 | http://purl.obolibrary.org/obo/hp.owl | Absent toe |
| HP:0001545 | http://purl.obolibrary.org/obo/hp.owl | Anteriorly placed anus |
| HP:0001640 | http://purl.obolibrary.org/obo/hp.owl | Cardiomegaly |
| HP:0002990 | http://purl.obolibrary.org/obo/hp.owl | Fibular aplasia |
| HP:0004443 | http://purl.obolibrary.org/obo/hp.owl | Lambdoidal craniosynostosis |
| HP:0008569 | http://purl.obolibrary.org/obo/hp.owl | Microtia, second degree |
| HP:0006277 | http://purl.obolibrary.org/obo/hp.owl | Pancreatic hyperplasia |
| HP:0010445 | http://purl.obolibrary.org/obo/hp.owl | Primum atrial septal defect |
| HP:0011640 | http://purl.obolibrary.org/obo/hp.owl | Single coronary artery origin |
| HP:0011608 | http://purl.obolibrary.org/obo/hp.owl | Type II truncus arteriosus |
| HP:0011327 | http://purl.obolibrary.org/obo/hp.owl | Posterior plagiocephaly |
| HP:0007655 | http://purl.obolibrary.org/obo/hp.owl | Eversion of lateral third of lower eyelids |
| HP:0010747 | http://purl.obolibrary.org/obo/hp.owl | Medial flaring of the eyebrow |
| HP:0005957 | http://purl.obolibrary.org/obo/hp.owl | Breathing dysregulation |
| HP:0000992 | http://purl.obolibrary.org/obo/hp.owl | Cutaneous photosensitivity |
| HP:0011995 | http://purl.obolibrary.org/obo/hp.owl | Atrial septal dilatation |
| HP:0000377 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the pinna |
| HP:0011266 | http://purl.obolibrary.org/obo/hp.owl | Microtia, first degree |
| HP:0012650 | http://purl.obolibrary.org/obo/hp.owl | Perisylvian polymicrogyria |
| HP:0004970 | http://purl.obolibrary.org/obo/hp.owl | Ascending tubular aorta aneurysm |
| HP:0008348 | http://purl.obolibrary.org/obo/hp.owl | Decreased circulating IgG2 level |
| HP:0012115 | http://purl.obolibrary.org/obo/hp.owl | Hepatitis |
| HP:0006979 | http://purl.obolibrary.org/obo/hp.owl | Sleep-wake cycle disturbance |
| HP:0008587 | http://purl.obolibrary.org/obo/hp.owl | Mild neurosensory hearing impairment |
| HP:0006097 | http://purl.obolibrary.org/obo/hp.owl | 3-4 finger syndactyly |
| HP:0005263 | http://purl.obolibrary.org/obo/hp.owl | Gastritis |
| HP:0200043 | http://purl.obolibrary.org/obo/hp.owl | Verrucae |
| HP:0009600 | http://purl.obolibrary.org/obo/hp.owl | Flexion contracture of thumb |
| HP:0010818 | http://purl.obolibrary.org/obo/hp.owl | Generalized tonic seizure |
| HP:0002599 | http://purl.obolibrary.org/obo/hp.owl | Head titubation |
| HP:0002090 | http://purl.obolibrary.org/obo/hp.owl | Pneumonia |
| HP:0030423 | http://purl.obolibrary.org/obo/hp.owl | Splenic cyst |
| HP:0030187 | http://purl.obolibrary.org/obo/hp.owl | Titubation |
| HP:0002375 | http://purl.obolibrary.org/obo/hp.owl | Hypokinesia |
| HP:0007166 | http://purl.obolibrary.org/obo/hp.owl | Paroxysmal dyskinesia |
| HP:0003077 | http://purl.obolibrary.org/obo/hp.owl | Hyperlipidemia |
| HP:0000017 | http://purl.obolibrary.org/obo/hp.owl | Nocturia |
| HP:0100555 | http://purl.obolibrary.org/obo/hp.owl | Asymmetric growth |
| HP:0011847 | http://purl.obolibrary.org/obo/hp.owl | Giant cell tumor of bone |
| HP:0000112 | http://purl.obolibrary.org/obo/hp.owl | Nephropathy |
| HP:0000246 | http://purl.obolibrary.org/obo/hp.owl | Sinusitis |
| HP:0001012 | http://purl.obolibrary.org/obo/hp.owl | Multiple lipomas |
| HP:0000851 | http://purl.obolibrary.org/obo/hp.owl | Congenital hypothyroidism |
| HP:0002345 | http://purl.obolibrary.org/obo/hp.owl | Action tremor |
| HP:0002677 | http://purl.obolibrary.org/obo/hp.owl | Small foramen magnum |
| HP:0011947 | http://purl.obolibrary.org/obo/hp.owl | Respiratory tract infection |
| HP:0012151 | http://purl.obolibrary.org/obo/hp.owl | Hemothorax |
| HP:0005988 | http://purl.obolibrary.org/obo/hp.owl | Congenital muscular torticollis |
| HP:0002329 | http://purl.obolibrary.org/obo/hp.owl | Drowsiness |
| HP:0012395 | http://purl.obolibrary.org/obo/hp.owl | Seasonal allergy |
| HP:0011679 | http://purl.obolibrary.org/obo/hp.owl | Tetralogy of Fallot with pulmonary stenosis |
| HP:0001864 | http://purl.obolibrary.org/obo/hp.owl | Clinodactyly of the 5th toe |
| HP:0006934 | http://purl.obolibrary.org/obo/hp.owl | Congenital nystagmus |
| HP:0100355 | http://purl.obolibrary.org/obo/hp.owl | Contractures of the distal interphalangeal joint of the 5th toe |
| HP:0007894 | http://purl.obolibrary.org/obo/hp.owl | Hypopigmentation of the fundus |
| HP:0012377 | http://purl.obolibrary.org/obo/hp.owl | Hemianopia |
| HP:0002354 | http://purl.obolibrary.org/obo/hp.owl | Memory impairment |
| HP:0000872 | http://purl.obolibrary.org/obo/hp.owl | Hashimoto thyroiditis |
| HP:0002519 | http://purl.obolibrary.org/obo/hp.owl | Hypnagogic hallucinations |
| HP:0010647 | http://purl.obolibrary.org/obo/hp.owl | Abnormal elasticity of skin |
| HP:0002592 | http://purl.obolibrary.org/obo/hp.owl | Gastric ulcer |
| HP:0004938 | http://purl.obolibrary.org/obo/hp.owl | Tortuous cerebral arteries |
| HP:0004948 | http://purl.obolibrary.org/obo/hp.owl | Vascular tortuosity |
| HP:0002516 | http://purl.obolibrary.org/obo/hp.owl | Increased intracranial pressure |
| HP:0006460 | http://purl.obolibrary.org/obo/hp.owl | Increased laxity of ankles |
| HP:0002317 | http://purl.obolibrary.org/obo/hp.owl | Unsteady gait |
| HP:0000182 | http://purl.obolibrary.org/obo/hp.owl | Movement abnormality of the tongue |
| HP:0009887 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of hair pigmentation |
| HP:0005824 | http://purl.obolibrary.org/obo/hp.owl | Clinodactyly of the 2nd toe |
| HP:0002212 | http://purl.obolibrary.org/obo/hp.owl | Curly hair |
| HP:0009803 | http://purl.obolibrary.org/obo/hp.owl | Short phalanx of finger |
| HP:0000572 | http://purl.obolibrary.org/obo/hp.owl | Visual loss |
| HP:0005216 | http://purl.obolibrary.org/obo/hp.owl | Impaired mastication |
| HP:0000619 | http://purl.obolibrary.org/obo/hp.owl | Impaired convergence |
| HP:0002403 | http://purl.obolibrary.org/obo/hp.owl | Positive Romberg sign |
| HP:0008744 | http://purl.obolibrary.org/obo/hp.owl | Abnormal aryepiglottic fold morphology |
| HP:0002374 | http://purl.obolibrary.org/obo/hp.owl | Diminished movement |
| HP:0008277 | http://purl.obolibrary.org/obo/hp.owl | Abnormal blood zinc concentration |
| HP:0012781 | http://purl.obolibrary.org/obo/hp.owl | Mid-frequency hearing loss |
| HP:0100758 | http://purl.obolibrary.org/obo/hp.owl | Gangrene |
| HP:0003256 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of the coagulation cascade |
| HP:0004387 | http://purl.obolibrary.org/obo/hp.owl | Enterocolitis |
| HP:0011029 | http://purl.obolibrary.org/obo/hp.owl | Internal hemorrhage |
| HP:0011649 | http://purl.obolibrary.org/obo/hp.owl | Patent ductus arteriosus after premature birth |
| HP:0012050 | http://purl.obolibrary.org/obo/hp.owl | Anasarca |
| HP:0001683 | http://purl.obolibrary.org/obo/hp.owl | Ectopia cordis |
| HP:0011682 | http://purl.obolibrary.org/obo/hp.owl | Perimembranous ventricular septal defect |
| HP:0010624 | http://purl.obolibrary.org/obo/hp.owl | Aplastic/hypoplastic toenail |
| HP:0002705 | http://purl.obolibrary.org/obo/hp.owl | High, narrow palate |
| HP:0011340 | http://purl.obolibrary.org/obo/hp.owl | Incomplete cleft of the upper lip |
| HP:0011613 | http://purl.obolibrary.org/obo/hp.owl | Interrupted aortic arch type B |
| HP:0006167 | http://purl.obolibrary.org/obo/hp.owl | Prominent proximal interphalangeal joints |
| HP:0002918 | http://purl.obolibrary.org/obo/hp.owl | Hypermagnesemia |
| HP:0011937 | http://purl.obolibrary.org/obo/hp.owl | Hypoplastic fifth toenail |
| HP:0001067 | http://purl.obolibrary.org/obo/hp.owl | Neurofibromas |
| HP:0011403 | http://purl.obolibrary.org/obo/hp.owl | Abnormal umbilical cord blood vessels |
| HP:0003316 | http://purl.obolibrary.org/obo/hp.owl | Butterfly vertebrae |
| HP:0002247 | http://purl.obolibrary.org/obo/hp.owl | Duodenal atresia |
| HP:0008439 | http://purl.obolibrary.org/obo/hp.owl | Lumbar hemivertebrae |
| HP:0011599 | http://purl.obolibrary.org/obo/hp.owl | Mesocardia |
| HP:0008467 | http://purl.obolibrary.org/obo/hp.owl | Thoracic hemivertebrae |
| HP:0004626 | http://purl.obolibrary.org/obo/hp.owl | Lumbar scoliosis |
| HP:0006808 | http://purl.obolibrary.org/obo/hp.owl | Cerebral hypomyelination |
| HP:0002926 | http://purl.obolibrary.org/obo/hp.owl | Abnormality of thyroid physiology |
| HP:0007970 | http://purl.obolibrary.org/obo/hp.owl | Congenital ptosis |
Explanation of the columns that may appear on this page:
| Level | A few code lists that FHIR defines are hierarchical - each code is assigned a level. In this scheme, some codes are under other codes, and imply that the code they are under also applies |
| System | The source of the definition of the code (when the value set draws in codes defined elsewhere) |
| Code | The code (used as the code in the resource instance) |
| Display | The display (used in the display element of a Coding). If there is no display, implementers should not simply display the code, but map the concept into their application |
| Definition | An explanation of the meaning of the concept |
| Comments | Additional notes about how to use the code |