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 2023-08-08 | Computable Name: PhenotypeCodes | |||
This value set includes all codes from Human Phenotype Ontology.
References
http://purl.obolibrary.org/obo/hp.owl
This value set has >1000 codes in it. In order to keep the publication size manageable, only a selection (1000 codes) of the whole set of codes is shown
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 |
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 |