NCPI FHIR Implementation Guide
0.1.0 - ci-build
NCPI FHIR Implementation Guide - Local Development build (v0.1.0). See the Directory of published versions
| Official URL: https://ncpi-fhir.github.io/ncpi-fhir-ig/ValueSet/phenotype-codes | Version: 0.1.0 | |||
| Draft as of 2022-08-16 | 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 Human Phenotype Ontology v0.1.0 (CodeSystem)
All codes in this table are from the system http://purl.obolibrary.org/obo/hp.owl
| Code | Display |
| HP:0000365 | Hearing impairment |
| HP:0002564 | obsolete Malformation of the heart and great vessels |
| HP:0001028 | Hemangioma |
| HP:0000476 | Cystic hygroma |
| HP:0000568 | Microphthalmia |
| HP:0000518 | Cataract |
| HP:0000612 | Iris coloboma |
| HP:0000567 | Chorioretinal coloboma |
| HP:0000316 | Hypertelorism |
| HP:0000482 | Microcornea |
| HP:0000588 | Optic nerve coloboma |
| HP:0004426 | Abnormality of the cheek |
| HP:0009125 | Lipodystrophy |
| HP:0002023 | Anal atresia |
| HP:0003468 | Abnormal vertebral morphology |
| HP:0000545 | Myopia |
| HP:0000122 | Unilateral renal agenesis |
| HP:0002143 | Abnormality of the spinal cord |
| HP:0003508 | Proportionate short stature |
| HP:0000271 | Abnormality of the face |
| HP:0000637 | Long palpebral fissure |
| HP:0000492 | Abnormal eyelid morphology |
| HP:0000389 | Chronic otitis media |
| HP:0000400 | Macrotia |
| HP:0000405 | Conductive hearing impairment |
| HP:0012712 | Mild hearing impairment |
| HP:0005280 | Depressed nasal bridge |
| HP:0000431 | Wide nasal bridge |
| HP:0000319 | Smooth philtrum |
| HP:0000175 | Cleft palate |
| HP:0001611 | Nasal speech |
| HP:0002099 | Asthma |
| HP:0001397 | Hepatic steatosis |
| HP:0001081 | Cholelithiasis |
| HP:0002650 | Scoliosis |
| HP:0001212 | Prominent fingertip pads |
| HP:0001328 | Specific learning disability |
| HP:0000824 | Growth hormone deficiency |
| HP:0002607 | Bowel incontinence |
| HP:0100731 | Transverse facial cleft |
| HP:0000528 | Anophthalmia |
| HP:0000601 | Hypotelorism |
| HP:0000369 | Low-set ears |
| HP:0001274 | Agenesis of corpus callosum |
| HP:0002084 | Encephalocele |
| HP:0007033 | Cerebellar dysplasia |
| HP:0100336 | Bilateral cleft lip |
| HP:0100337 | Bilateral cleft palate |
| HP:0001511 | Intrauterine growth retardation |
| HP:0011451 | Congenital microcephaly |
| HP:0000324 | Facial asymmetry |
| HP:0000581 | Blepharophimosis |
| HP:0000508 | Ptosis |
| HP:0008551 | Microtia |
| HP:0001631 | Atrial septal defect |
| HP:0000085 | Horseshoe kidney |
| HP:0011927 | Short digit |
| HP:0001156 | Brachydactyly |
| HP:0002066 | Gait ataxia |
| HP:0001250 | Seizure |
| HP:0001263 | Global developmental delay |
| HP:0001562 | Oligohydramnios |
| HP:0001195 | Single umbilical artery |
| HP:0006349 | Agenesis of permanent teeth |
| HP:0000668 | Hypodontia |
| HP:0000677 | Oligodontia |
| HP:0001252 | Muscular hypotonia |
| HP:0003429 | CNS hypomyelination |
| HP:0010864 | Intellectual disability, severe |
| HP:0004325 | Decreased body weight |
| HP:0000666 | Horizontal nystagmus |
| HP:0000218 | High palate |
| HP:0010809 | Broad uvula |
| HP:0000767 | Pectus excavatum |
| HP:0003691 | Scapular winging |
| HP:0002616 | Aortic root aneurysm |
| HP:0001601 | Laryngomalacia |
| HP:0002021 | Pyloric stenosis |
| HP:0001388 | Joint laxity |
| HP:0001187 | Hyperextensibility of the finger joints |
| HP:0000741 | Apathy |
| HP:0000817 | Poor eye contact |
| HP:0000821 | Hypothyroidism |
| HP:0000002 | Abnormality of body height |
| HP:0000079 | Abnormality of the urinary system |
| HP:0000164 | Abnormality of the dentition |
| HP:0000364 | Hearing abnormality |
| HP:0000366 | Abnormality of the nose |
| HP:0000464 | Abnormality of the neck |
| HP:0000707 | Abnormality of the nervous system |
| HP:0000708 | Behavioral abnormality |
| HP:0000769 | Abnormality of the breast |
| HP:0000772 | Abnormality of the ribs |
| HP:0000775 | Abnormality of the diaphragm |
| HP:0000889 | Abnormality of the clavicle |
| HP:0000925 | Abnormality of the vertebral column |
| HP:0001080 | Biliary tract abnormality |
| HP:0001392 | Abnormality of the liver |
| HP:0001438 | Abnormal abdomen morphology |
| HP:0001608 | Abnormality of the voice |
| HP:0001627 | Abnormal heart morphology |
| HP:0001732 | Abnormality of the pancreas |
| HP:0001739 | Abnormality of the nasopharynx |
| HP:0001743 | Abnormality of the spleen |
| HP:0001760 | Abnormal foot morphology |
| HP:0001871 | Abnormality of blood and blood-forming tissues |
| HP:0002031 | Abnormal esophagus morphology |
| HP:0002244 | Abnormality of the small intestine |
| HP:0002246 | Abnormality of the duodenum |
| HP:0002250 | Abnormal large intestine morphology |
| HP:0002644 | Abnormality of pelvic girdle bone morphology |
| HP:0002664 | Neoplasm |
| HP:0002715 | Abnormality of the immune system |
| HP:0002814 | Abnormality of the lower limb |
| HP:0002817 | Abnormality of the upper limb |
| HP:0005483 | Abnormal epiglottis morphology |
| HP:0008777 | Abnormal vocal cord morphology |
| HP:0011844 | Abnormal appendicular skeleton morphology |
| HP:0012732 | Anorectal anomaly |
| HP:0001508 | Failure to thrive |
| HP:0002902 | Hyponatremia |
| HP:0012236 | Elevated sweat chloride |
| HP:0000347 | Micrognathia |
| HP:0000926 | Platyspondyly |
| HP:0001371 | Flexion contracture |
| HP:0001875 | Neutropenia |
| HP:0001888 | Lymphopenia |
| HP:0002857 | Genu valgum |
| HP:0002986 | Radial bowing |
| HP:0003015 | Flared metaphysis |
| HP:0003025 | Metaphyseal irregularity |
| HP:0003097 | Short femur |
| HP:0003300 | Ovoid vertebral bodies |
| HP:0003307 | Hyperlordosis |
| HP:0004209 | Clinodactyly of the 5th finger |
| HP:0004322 | Short stature |
| HP:0005792 | Short humerus |
| HP:0006248 | Limited wrist movement |
| HP:0000944 | Abnormality of the metaphysis |
| HP:0011921 | Exudative pleural effusion |
| HP:0003043 | Abnormality of the shoulder |
| HP:0000290 | Abnormality of the forehead |
| HP:0005288 | Abnormality of the nares |
| HP:0000234 | Abnormality of the head |
| HP:0004323 | Abnormality of body weight |
| HP:0000483 | Astigmatism |
| HP:0011003 | High myopia |
| HP:0000470 | Short neck |
| HP:0030044 | Flexion contracture of digit |
| HP:0100871 | Abnormality of the palm |
| HP:0004334 | Dermal atrophy |
| HP:0001845 | Overlapping toe |
| HP:0000496 | Abnormality of eye movement |
| HP:0001780 | Abnormality of toe |
| HP:0001626 | Abnormality of the cardiovascular system |
| HP:0002086 | Abnormality of the respiratory system |
| HP:0000818 | Abnormality of the endocrine system |
| HP:0012372 | Abnormal eye morphology |
| HP:0009473 | Joint contracture of the hand |
| HP:0003199 | Decreased muscle mass |
| HP:0003202 | Skeletal muscle atrophy |
| HP:0003551 | Difficulty climbing stairs |
| HP:0002355 | Difficulty walking |
| HP:0003546 | Exercise intolerance |
| HP:0003325 | Limb-girdle muscle weakness |
| HP:0003701 | Proximal muscle weakness |
| HP:0003547 | Shoulder girdle muscle weakness |
| HP:0007340 | Lower limb muscle weakness |
| HP:0002168 | Scanning speech |
| HP:0001265 | Hyporeflexia |
| HP:0001284 | Areflexia |
| HP:0003477 | Peripheral axonal neuropathy |
| HP:0000924 | Abnormality of the skeletal system |
| HP:0001291 | Abnormal cranial nerve morphology |
| HP:0003687 | Centrally nucleated skeletal muscle fibers |
| HP:0001324 | Muscle weakness |
| HP:0002515 | Waddling gait |
| HP:0100280 | Crohn's disease |
| HP:0002631 | obsolete Dilatation of ascending aorta |
| HP:0100026 | Arteriovenous malformation |
| HP:0002637 | Cerebral ischemia |
| HP:0002619 | Varicose veins |
| HP:0001159 | Syndactyly |
| HP:0002069 | Bilateral tonic-clonic seizure |
| HP:0000977 | Soft skin |
| HP:0010648 | Dermal translucency |
| HP:0000978 | Bruising susceptibility |
| HP:0001956 | Truncal obesity |
| HP:0000189 | Narrow palate |
| HP:0000678 | Dental crowding |
| HP:0002870 | Obstructive sleep apnea |
| HP:0001763 | Pes planus |
| HP:0000782 | Abnormality of the scapula |
| HP:0001600 | Abnormality of the larynx |
| HP:0002088 | Abnormal lung morphology |
| HP:0011407 | Proportionate tall stature |
| HP:0000541 | Retinal detachment |
| HP:0001373 | Joint dislocation |
| HP:0000938 | Osteopenia |
| HP:0002942 | Thoracic kyphosis |
| HP:0001840 | Metatarsus adductus |
| HP:0001844 | Abnormality of the hallux |
| HP:0001765 | Hammertoe |
| HP:0000606 | Abnormality of the periorbital region |
| HP:0002757 | Recurrent fractures |
| HP:0000647 | Sclerocornea |
| HP:0001166 | Arachnodactyly |
| HP:0005490 | Postnatal macrocephaly |
| HP:0011363 | Abnormality of hair growth rate |
| HP:0000276 | Long face |
| HP:0000275 | Narrow face |
| HP:0000337 | Broad forehead |
| HP:0002267 | Exaggerated startle response |
| HP:0002187 | Intellectual disability, profound |
| HP:0000728 | Impaired ability to form peer relationships |
| HP:0000733 | Stereotypy |
| HP:0000739 | Anxiety |
| HP:0000929 | Abnormal skull morphology |
| HP:0001965 | Abnormal scalp morphology |
| HP:0100538 | Abnormality of the supraorbital ridges |
| HP:0000309 | Abnormality of the midface |
| HP:0000277 | Abnormality of the mandible |
| HP:0000765 | Abnormality of the thorax |
| HP:0100008 | Schwannoma |
| HP:0030038 | Enchondroma |
| HP:0100777 | Exostoses |
| HP:0011663 | Right ventricular cardiomyopathy |
| HP:0011675 | Arrhythmia |
| HP:0001962 | Palpitations |
| HP:0001279 | Syncope |
| HP:0004756 | Ventricular tachycardia |
| HP:0000252 | Microcephaly |
| HP:0000303 | Mandibular prognathia |
| HP:0000664 | Synophrys |
| HP:0001609 | Hoarse voice |
| HP:0002558 | Supernumerary nipple |
| HP:0001634 | Mitral valve prolapse |
| HP:0000028 | Cryptorchidism |
| HP:0000973 | Cutis laxa |
| HP:0001518 | Small for gestational age |
| HP:0000527 | Long eyelashes |
| HP:0002808 | Kyphosis |
| HP:0000248 | Brachycephaly |
| HP:0000505 | Visual impairment |
| HP:0000512 | Abnormal electroretinogram |
| HP:0000517 | Abnormality of the lens |
| HP:0000529 | Progressive visual loss |
| HP:0000586 | Shallow orbits |
| HP:0000603 | Central scotoma |
| HP:0000939 | Osteoporosis |
| HP:0001377 | Limited elbow extension |
| HP:0001387 | Joint stiffness |
| HP:0001822 | Hallux valgus |
| HP:0002657 | Spondylometaphyseal dysplasia |
| HP:0003026 | Short long bone |
| HP:0006462 | Generalized bone demineralization |
| HP:0008873 | Disproportionate short-limb short stature |
| HP:0008905 | Rhizomelia |
| HP:0008922 | Childhood-onset short-trunk short stature |
| HP:0200020 | Corneal erosion |
| HP:0001172 | Abnormal thumb morphology |
| HP:0002286 | Fair hair |
| HP:0010719 | Abnormality of hair texture |
| HP:0010720 | Abnormal hair pattern |
| HP:0001635 | Congestive heart failure |
| HP:0001644 | Dilated cardiomyopathy |
| HP:0001663 | Ventricular fibrillation |
| HP:0011712 | Right bundle branch block |
| HP:0000272 | Malar flattening |
| HP:0000286 | Epicanthus |
| HP:0000322 | Short philtrum |
| HP:0000463 | Anteverted nares |
| HP:0000494 | Downslanted palpebral fissures |
| HP:0000543 | Optic disc pallor |
| HP:0000699 | Diastema |
| HP:0000773 | Short ribs |
| HP:0000887 | Cupped ribs |
| HP:0000946 | Hypoplastic ilia |
| HP:0000954 | Single transverse palmar crease |
| HP:0001182 | Tapered finger |
| HP:0001537 | Umbilical hernia |
| HP:0002007 | Frontal bossing |
| HP:0002980 | Femoral bowing |
| HP:0002982 | Tibial bowing |
| HP:0003021 | Metaphyseal cupping |
| HP:0005011 | Mesomelic arm shortening |
| HP:0008803 | obsolete Narrow sacroiliac notch |
| HP:0009117 | Aplasia/Hypoplasia of the maxilla |
| HP:0011220 | Prominent forehead |
| HP:0012801 | Narrow jaw |
| HP:0000243 | Trigonocephaly |
| HP:0000358 | Posteriorly rotated ears |
| HP:0000411 | Protruding ear |
| HP:0000646 | Amblyopia |
| HP:0002812 | Coxa vara |
| HP:0002970 | Genu varum |
| HP:0012775 | Stellate iris |
| HP:0000278 | Retrognathia |
| HP:0009796 | Branchial cyst |
| HP:0002474 | Expressive language delay |
| HP:0007018 | Attention deficit hyperactivity disorder |
| HP:0003198 | Myopathy |
| HP:0003324 | Generalized muscle weakness |
| HP:0003552 | Muscle stiffness |
| HP:0003554 | Type 2 muscle fiber atrophy |
| HP:0003557 | Increased variability in muscle fiber diameter |
| HP:0009025 | Increased connective tissue |
| HP:0003635 | Loss of subcutaneous adipose tissue in limbs |
| HP:0002597 | Abnormality of the vasculature |
| HP:0001649 | Tachycardia |
| HP:0001638 | Cardiomyopathy |
| HP:0001654 | Abnormal heart valve morphology |
| HP:0001671 | Abnormal cardiac septum morphology |
| HP:0000103 | Polyuria |
| HP:0000114 | Proximal tubulopathy |
| HP:0001878 | Hemolytic anemia |
| HP:0001931 | Hypochromic anemia |
| HP:0001935 | Microcytic anemia |
| HP:0001959 | Polydipsia |
| HP:0001994 | Renal Fanconi syndrome |
| HP:0002134 | Abnormality of the basal ganglia |
| HP:0002188 | Delayed CNS myelination |
| HP:0002908 | Conjugated hyperbilirubinemia |
| HP:0003774 | Stage 5 chronic kidney disease |
| HP:0010700 | obsolete Total cataract |
| HP:0000193 | Bifid uvula |
| HP:0000219 | Thin upper lip vermilion |
| HP:0000426 | Prominent nasal bridge |
| HP:0000452 | Choanal stenosis |
| HP:0000490 | Deeply set eye |
| HP:0000540 | Hypermetropia |
| HP:0000579 | Nasolacrimal duct obstruction |
| HP:0000684 | Delayed eruption of teeth |
| HP:0000960 | Sacral dimple |
| HP:0000998 | Hypertrichosis |
| HP:0001643 | Patent ductus arteriosus |
| HP:0010813 | Abnormal number of hair whorls |
| HP:0012384 | Rhinitis |
| HP:0012745 | Short palpebral fissure |
| HP:0000359 | Abnormality of the inner ear |
| HP:0000429 | Abnormality of the nasal alae |
| HP:0000436 | Abnormality of the nasal tip |
| HP:0000499 | Abnormal eyelash morphology |
| HP:0000534 | Abnormal eyebrow morphology |
| HP:0000951 | Abnormality of the skin |
| HP:0001000 | Abnormality of skin pigmentation |
| HP:0001597 | Abnormality of the nail |
| HP:0006483 | Abnormal number of teeth |
| HP:0009929 | Abnormality of the columella |
| HP:0011119 | Abnormality of the nasal dorsum |
| HP:0012808 | Abnormal nasal base |
| HP:0100490 | Camptodactyly of finger |
| HP:0000964 | Eczema |
| HP:0004442 | Sagittal craniosynostosis |
| HP:0000414 | Bulbous nose |
| HP:0003180 | Flat acetabular roof |
| HP:0000422 | Abnormality of the nasal bridge |
| HP:0000614 | Abnormal nasolacrimal system morphology |
| HP:0001167 | Abnormality of finger |
| HP:0001595 | Abnormal hair morphology |
| HP:0012373 | Abnormal eye physiology |
| HP:0001655 | Patent foramen ovale |
| HP:0001647 | Bicuspid aortic valve |
| HP:0000574 | Thick eyebrow |
| HP:0001169 | Broad palm |
| HP:0006471 | Fixed elbow flexion |
| HP:0008689 | Bilateral cryptorchidism |
| HP:0011304 | Broad thumb |
| HP:0005110 | Atrial fibrillation |
| HP:0001633 | Abnormal mitral valve morphology |
| HP:0001641 | Abnormal pulmonary valve morphology |
| HP:0001702 | Abnormal tricuspid valve morphology |
| HP:0000012 | Urinary urgency |
| HP:0000020 | Urinary incontinence |
| HP:0000131 | Uterine leiomyoma |
| HP:0000132 | Menorrhagia |
| HP:0000138 | Ovarian cyst |
| HP:0000853 | Goiter |
| HP:0000953 | Hyperpigmentation of the skin |
| HP:0001061 | Acne |
| HP:0002315 | Headache |
| HP:0004324 | Increased body weight |
| HP:0000069 | Abnormality of the ureter |
| HP:0000077 | Abnormality of the kidney |
| HP:0000759 | Abnormal peripheral nervous system morphology |
| HP:0008069 | Neoplasm of the skin |
| HP:0011276 | Vascular skin abnormality |
| HP:0000705 | Amelogenesis imperfecta |
| HP:0001256 | Intellectual disability, mild |
| HP:0000325 | Triangular face |
| HP:0000160 | Narrow mouth |
| HP:0009487 | Ulnar deviation of the hand |
| HP:0001249 | Intellectual disability |
| HP:0008064 | Ichthyosis |
| HP:0000311 | Round face |
| HP:0001653 | Mitral regurgitation |
| HP:0001771 | Achilles tendon contracture |
| HP:0012032 | Lipoma |
| HP:0012368 | Flat face |
| HP:0030053 | Stiff skin |
| HP:0011124 | Abnormality of epidermal morphology |
| HP:0011097 | Epileptic spasm |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000331 | Short chin |
| HP:0000340 | Sloping forehead |
| HP:0000486 | Strabismus |
| HP:0000713 | Agitation |
| HP:0000802 | Impotence |
| HP:0001272 | Cerebellar atrophy |
| HP:0001276 | Hypertonia |
| HP:0001321 | Cerebellar hypoplasia |
| HP:0001322 | obsolete Brain very small |
| HP:0002061 | Lower limb spasticity |
| HP:0002529 | Neuronal loss in central nervous system |
| HP:0002540 | Inability to walk |
| HP:0005484 | Postnatal microcephaly |
| HP:0012850 | Small intestinal dysmotility |
| HP:0000504 | Abnormality of vision |
| HP:0002118 | Abnormality of the cerebral ventricles |
| HP:0002363 | Abnormality of brainstem morphology |
| HP:0010651 | Abnormal meningeal morphology |
| HP:0100024 | Conspicuously happy disposition |
| HP:0002538 | Abnormality of the cerebral cortex |
| HP:0000054 | Micropenis |
| HP:0000215 | Thick upper lip vermilion |
| HP:0000293 | Full cheeks |
| HP:0000349 | Widow's peak |
| HP:0000444 | Convex nasal ridge |
| HP:0000506 | Telecanthus |
| HP:0000592 | Blue sclerae |
| HP:0000691 | Microdontia |
| HP:0000698 | Conical tooth |
| HP:0002000 | Short columella |
| HP:0002097 | Emphysema |
| HP:0002209 | Sparse scalp hair |
| HP:0002816 | Genu recurvatum |
| HP:0005116 | Arterial tortuosity |
| HP:0007957 | Corneal opacity |
| HP:0008070 | Sparse hair |
| HP:0009623 | Proximal placement of thumb |
| HP:0010055 | Broad hallux |
| HP:0011318 | Bicoronal synostosis |
| HP:0011968 | Feeding difficulties |
| HP:0200067 | Recurrent spontaneous abortion |
| HP:0011819 | Submucous cleft soft palate |
| HP:0000268 | Dolichocephaly |
| HP:0003302 | Spondylolisthesis |
| HP:0000582 | Upslanted palpebral fissure |
| HP:0000952 | Jaundice |
| HP:0001298 | Encephalopathy |
| HP:0001396 | Cholestasis |
| HP:0002059 | Cerebral atrophy |
| HP:0002171 | Gliosis |
| HP:0002240 | Hepatomegaly |
| HP:0002353 | EEG abnormality |
| HP:0002446 | Astrocytosis |
| HP:0003287 | Abnormality of mitochondrial metabolism |
| HP:0011449 | Knee clonus |
| HP:0012852 | Hepatic bridging fibrosis |
| HP:0100626 | Chronic hepatic failure |
| HP:0000385 | Small earlobe |
| HP:0009748 | Large earlobe |
| HP:0000157 | Abnormality of the tongue |
| HP:0000172 | Abnormality of the uvula |
| HP:0000174 | Abnormal palate morphology |
| HP:0000306 | Abnormality of the chin |
| HP:0004408 | Abnormality of the sense of smell |
| HP:0009912 | Abnormality of the tragus |
| HP:0000537 | Epicanthus inversus |
| HP:0000565 | Esotropia |
| HP:0000752 | Hyperactivity |
| HP:0003186 | Inverted nipples |
| HP:0012503 | Abnormality of the pituitary gland |
| HP:0100710 | Impulsivity |
| HP:0000357 | Abnormal location of ears |
| HP:0000820 | Abnormality of the thyroid gland |
| HP:0000828 | Abnormality of the parathyroid gland |
| HP:0000834 | Abnormality of the adrenal glands |
| HP:0012093 | Abnormality of endocrine pancreas physiology |
| HP:0000269 | Prominent occiput |
| HP:0000535 | Sparse and thin eyebrow |
| HP:0000639 | Nystagmus |
| HP:0000718 | Aggressive behavior |
| HP:0000957 | Cafe-au-lait spot |
| HP:0000256 | Macrocephaly |
| HP:0000750 | Delayed speech and language development |
| HP:0000963 | Thin skin |
| HP:0001260 | Dysarthria |
| HP:0002194 | Delayed gross motor development |
| HP:0003196 | Short nose |
| HP:0001155 | Abnormality of the hand |
| HP:0100022 | Abnormality of movement |
| HP:0010862 | Delayed fine motor development |
| HP:0000343 | Long philtrum |
| HP:0000717 | Autism |
| HP:0001883 | Talipes |
| HP:0002553 | Highly arched eyebrow |
| HP:0007488 | Diffuse skin atrophy |
| HP:0000822 | Hypertension |
| HP:0001278 | Orthostatic hypotension |
| HP:0001944 | Dehydration |
| HP:0001945 | Fever |
| HP:0002019 | Constipation |
| HP:0002020 | Gastroesophageal reflux |
| HP:0002027 | Abdominal pain |
| HP:0002718 | Recurrent bacterial infections |
| HP:0002841 | Recurrent fungal infections |
| HP:0004395 | Malnutrition |
| HP:0009830 | Peripheral neuropathy |
| HP:0000126 | Hydronephrosis |
| HP:0000519 | Developmental cataract |
| HP:0000648 | Optic atrophy |
| HP:0001053 | Hypopigmented skin patches |
| HP:0001087 | Developmental glaucoma |
| HP:0002119 | Ventriculomegaly |
| HP:0002280 | Enlarged cisterna magna |
| HP:0003298 | Spina bifida occulta |
| HP:0004467 | Preauricular pit |
| HP:0008511 | Central posterior corneal opacity |
| HP:0010780 | Hyperacusis |
| HP:0030048 | Colpocephaly |
| HP:0100335 | Non-midline cleft lip |
| HP:0000525 | Abnormality iris morphology |
| HP:0002719 | Recurrent infections |
| HP:0000153 | Abnormality of the mouth |
| HP:0001903 | Anemia |
| HP:0002094 | Dyspnea |
| HP:0002206 | Pulmonary fibrosis |
| HP:0002789 | Tachypnea |
| HP:0002793 | Abnormal pattern of respiration |
| HP:0003565 | Elevated erythrocyte sedimentation rate |
| HP:0006517 | Intraalveolar phospholipid accumulation |
| HP:0006530 | Interstitial pulmonary abnormality |
| HP:0100759 | Clubbing of fingers |
| HP:0002103 | Abnormal pleura morphology |
| HP:0001596 | Alopecia |
| HP:0001882 | Leukopenia |
| HP:0002013 | Vomiting |
| HP:0002028 | Chronic diarrhea |
| HP:0002573 | Hematochezia |
| HP:0002960 | Autoimmunity |
| HP:0005387 | Combined immunodeficiency |
| HP:0011109 | Chronic sinusitis |
| HP:0004429 | Recurrent viral infections |
| HP:0000280 | Coarse facial features |
| HP:0000294 | Low anterior hairline |
| HP:0000577 | Exotropia |
| HP:0001873 | Thrombocytopenia |
| HP:0002011 | Morphological central nervous system abnormality |
| HP:0006610 | Wide intermamillary distance |
| HP:0011231 | Prominent eyelashes |
| HP:0012718 | Morphological abnormality of the gastrointestinal tract |
| HP:0002024 | Malabsorption |
| HP:0001394 | Cirrhosis |
| HP:0001414 | Microvesicular hepatic steatosis |
| HP:0001403 | Macrovesicular hepatic steatosis |
| HP:0001410 | Decreased liver function |
| HP:0001409 | Portal hypertension |
| HP:0001744 | Splenomegaly |
| HP:0003394 | Muscle spasm |
| HP:0003750 | Increased muscle fatiguability |
| HP:0002123 | Generalized myoclonic seizure |
| HP:0002219 | Facial hypertrichosis |
| HP:0000831 | Insulin-resistant diabetes mellitus |
| HP:0001891 | Iron deficiency anemia |
| HP:0001264 | Spastic diplegia |
| HP:0002313 | Spastic paraparesis |
| HP:0001347 | Hyperreflexia |
| HP:0002460 | Distal muscle weakness |
| HP:0000763 | Sensory neuropathy |
| HP:0001268 | Mental deterioration |
| HP:0002169 | Clonus |
| HP:0001332 | Dystonia |
| HP:0100716 | Self-injurious behavior |
| HP:0000602 | Ophthalmoplegia |
| HP:0001251 | Ataxia |
| HP:0000776 | Congenital diaphragmatic hernia |
| HP:0000410 | Mixed hearing impairment |
| HP:0000510 | Rod-cone dystrophy |
| HP:0004437 | Cranial hyperostosis |
| HP:0011001 | Increased bone mineral density |
| HP:0000956 | Acanthosis nigricans |
| HP:0000958 | Dry skin |
| HP:0000580 | Pigmentary retinopathy |
| HP:0000649 | Abnormality of visual evoked potentials |
| HP:0000657 | Oculomotor apraxia |
| HP:0000479 | Abnormal retinal morphology |
| HP:0001317 | Abnormal cerebellum morphology |
| HP:0001533 | Slender build |
| HP:0001629 | Ventricular septal defect |
| HP:0000703 | Dentinogenesis imperfecta |
| HP:0000914 | Shield chest |
| HP:0001500 | Broad finger |
| HP:0003086 | Acromesomelia |
| HP:0003416 | Spinal canal stenosis |
| HP:0002815 | Abnormality of the knee |
| HP:0002992 | Abnormality of tibia morphology |
| HP:0001639 | Hypertrophic cardiomyopathy |
| HP:0003236 | Elevated serum creatine kinase |
| HP:0001369 | Arthritis |
| HP:0003560 | Muscular dystrophy |
| HP:0003974 | Absent radius |
| HP:0002818 | Abnormality of the radius |
| HP:0001561 | Polyhydramnios |
| HP:0002299 | Brittle hair |
| HP:0002208 | Coarse hair |
| HP:0002213 | Fine hair |
| HP:0000522 | Alacrima |
| HP:0100704 | Cerebral visual impairment |
| HP:0012713 | Moderate hearing impairment |
| HP:0002307 | Drooling |
| HP:0002714 | Downturned corners of mouth |
| HP:0000191 | Accessory oral frenulum |
| HP:0000158 | Macroglossia |
| HP:0012020 | Right aortic arch |
| HP:0002104 | Apnea |
| HP:0000598 | Abnormality of the ear |
| HP:0007874 | Almond-shaped palpebral fissure |
| HP:0010804 | Tented upper lip vermilion |
| HP:0000885 | Broad ribs |
| HP:0000768 | Pectus carinatum |
| HP:0001680 | Coarctation of aorta |
| HP:0000687 | Widely spaced teeth |
| HP:0000047 | Hypospadias |
| HP:0001943 | Hypoglycemia |
| HP:0012369 | Abnormality of malar bones |
| HP:0009900 | Unilateral deafness |
| HP:0000023 | Inguinal hernia |
| HP:0000074 | Ureteropelvic junction obstruction |
| HP:0001800 | Hypoplastic toenails |
| HP:0001804 | Hypoplastic fingernail |
| HP:0002949 | Fused cervical vertebrae |
| HP:0008050 | Abnormality of the palpebral fissures |
| HP:0008577 | Underfolded helix |
| HP:0008589 | Hypoplastic helices |
| HP:0010863 | Receptive language delay |
| HP:0002282 | Gray matter heterotopia |
| HP:0002085 | Occipital encephalocele |
| HP:0001057 | Aplasia cutis congenita |
| HP:0000211 | Trismus |
| HP:0008422 | Vertebral wedging |
| HP:0003170 | Abnormality of the acetabulum |
| HP:0003272 | Abnormality of the hip bone |
| HP:0003028 | Abnormality of the ankles |
| HP:0003301 | Irregular vertebral endplates |
| HP:0010508 | Metatarsus valgus |
| HP:0009811 | Abnormality of the elbow |
| HP:0000736 | Short attention span |
| HP:0002912 | Methylmalonic acidemia |
| HP:0001941 | Acidosis |
| HP:0001992 | Organic aciduria |
| HP:0009027 | Foot dorsiflexor weakness |
| HP:0002063 | Rigidity |
| HP:0000384 | Preauricular skin tag |
| HP:0200046 | Cat cry |
| HP:0001357 | Plagiocephaly |
| HP:0000670 | Carious teeth |
| HP:0011090 | Fused teeth |
| HP:0012810 | Wide nasal base |
| HP:0010296 | Ankyloglossia |
| HP:0001636 | Tetralogy of Fallot |
| HP:0001305 | Dandy-Walker malformation |
| HP:0000238 | Hydrocephalus |
| HP:0005469 | Flat occiput |
| HP:0000270 | Delayed cranial suture closure |
| HP:0000239 | Large fontanelles |
| HP:0010537 | Wide cranial sutures |
| HP:0002217 | Slow-growing hair |
| HP:0000587 | Abnormality of the optic nerve |
| HP:0005989 | Redundant neck skin |
| HP:0010775 | Vascular ring |
| HP:0002779 | Tracheomalacia |
| HP:0002827 | Hip dislocation |
| HP:0001302 | Pachygyria |
| HP:0007362 | Aplasia/Hypoplasia of the brainstem |
| HP:0001558 | Decreased fetal movement |
| HP:0010878 | Fetal cystic hygroma |
| HP:0011398 | Central hypotonia |
| HP:0002071 | Abnormality of extrapyramidal motor function |
| HP:0000826 | Precocious puberty |
| HP:0000014 | Abnormality of the bladder |
| HP:0005037 | Proximal radio-ulnar synostosis |
| HP:0100543 | Cognitive impairment |
| HP:0000481 | Abnormal cornea morphology |
| HP:0000076 | Vesicoureteral reflux |
| HP:0000297 | Facial hypotonia |
| HP:0000391 | Thickened helices |
| HP:0001162 | Postaxial hand polydactyly |
| HP:0001385 | Hip dysplasia |
| HP:0002342 | Intellectual disability, moderate |
| HP:0003191 | Cleft ala nasi |
| HP:0009765 | Low hanging columella |
| HP:0010297 | Bifid tongue |
| HP:0011330 | Metopic synostosis |
| HP:0012804 | Corneal ulceration |
| HP:0010485 | Hyperextensibility at elbow |
| HP:0000609 | Optic nerve hypoplasia |
| HP:0001176 | Large hands |
| HP:0004233 | Advanced ossification of carpal bones |
| HP:0100842 | Septo-optic dysplasia |
| HP:0002034 | Abnormality of the rectum |
| HP:0002283 | Global brain atrophy |
| HP:0003115 | Abnormal EKG |
| HP:0002577 | Abnormal stomach morphology |
| HP:0002539 | Cortical dysplasia |
| HP:0006818 | 4-layered lissencephaly |
| HP:0000593 | Abnormal anterior chamber morphology |
| HP:0000179 | Thick lower lip vermilion |
| HP:0002002 | Deep philtrum |
| HP:0009931 | Enlarged naris |
| HP:0002948 | Vertebral fusion |
| HP:0002937 | Hemivertebrae |
| HP:0002308 | Arnold-Chiari malformation |
| HP:0011320 | Unilambdoid synostosis |
| HP:0002781 | Upper airway obstruction |
| HP:0001363 | Craniosynostosis |
| HP:0000204 | Cleft upper lip |
| HP:0001738 | Exocrine pancreatic insufficiency |
| HP:0002823 | Abnormality of femur morphology |
| HP:0000823 | Delayed puberty |
| HP:0100279 | Ulcerative colitis |
| HP:0003834 | Shoulder dislocation |
| HP:0001065 | Striae distensae |
| HP:0000448 | Prominent nose |
| HP:0000554 | Uveitis |
| HP:0001006 | obsolete Hypotrichosis |
| HP:0000501 | Glaucoma |
| HP:0000262 | Turricephaly |
| HP:0000729 | Autistic behavior |
| HP:0010800 | Absent cupid's bow |
| HP:0010808 | Protruding tongue |
| HP:0009927 | Aplasia of the nose |
| HP:0100539 | Periorbital edema |
| HP:0000629 | Periorbital fullness |
| HP:0000178 | Abnormality of lower lip |
| HP:0000168 | Abnormality of the gingiva |
| HP:0001022 | Albinism |
| HP:0000177 | Abnormality of upper lip |
| HP:0001337 | Tremor |
| HP:0002135 | Basal ganglia calcification |
| HP:0002352 | Leukoencephalopathy |
| HP:0002514 | Cerebral calcification |
| HP:0010576 | Intracranial cystic lesion |
| HP:0001622 | Premature birth |
| HP:0002415 | Leukodystrophy |
| HP:0001320 | Cerebellar vermis hypoplasia |
| HP:0001773 | Short foot |
| HP:0002750 | Delayed skeletal maturation |
| HP:0004415 | Pulmonary artery stenosis |
| HP:0012741 | Unilateral cryptorchidism |
| HP:0000036 | Abnormality of the penis |
| HP:0002408 | Cerebral arteriovenous malformation |
| HP:0007457 | Prominent veins on trunk |
| HP:0000378 | Cupped ear |
| HP:0000396 | Overfolded helix |
| HP:0000035 | Abnormal testis morphology |
| HP:0009895 | Abnormality of the crus of the helix |
| HP:0000034 | Hydrocele testis |
| HP:0000722 | Obsessive-compulsive behavior |
| HP:0000845 | Growth hormone excess |
| HP:0100829 | Galactorrhea |
| HP:0001578 | Increased circulating cortisol level |
| HP:0000786 | Primary amenorrhea |
| HP:0001701 | Pericarditis |
| HP:0002076 | Migraine |
| HP:0004755 | Supraventricular tachycardia |
| HP:0010522 | Dyslexia |
| HP:0004313 | Decreased circulating antibody level |
| HP:0000011 | Neurogenic bladder |
| HP:0000641 | Dysmetric saccades |
| HP:0007772 | Impaired smooth pursuit |
| HP:0001583 | Rotary nystagmus |
| HP:0010544 | Vertical nystagmus |
| HP:0012735 | Cough |
| HP:0002075 | Dysdiadochokinesis |
| HP:0007256 | Abnormal pyramidal sign |
| HP:0001257 | Spasticity |
| HP:0002321 | Vertigo |
| HP:0002384 | Focal impaired awareness seizure |
| HP:0011376 | Morphological abnormality of the vestibule of the inner ear |
| HP:0002326 | Transient ischemic attack |
| HP:0005584 | Renal cell carcinoma |
| HP:0003124 | Hypercholesterolemia |
| HP:0003002 | Breast carcinoma |
| HP:0004953 | obsolete Dilatation of abdominal aorta |
| HP:0004944 | Dilatation of the cerebral artery |
| HP:0000100 | Nephrotic syndrome |
| HP:0002783 | Recurrent lower respiratory tract infections |
| HP:0003470 | Paralysis |
| HP:0006597 | Diaphragmatic paralysis |
| HP:0008151 | Prolonged prothrombin time |
| HP:0010628 | Facial palsy |
| HP:0011892 | Low levels of vitamin K |
| HP:0001075 | Atrophic scars |
| HP:0001816 | Thin nail |
| HP:0002216 | Premature graying of hair |
| HP:0003401 | Paresthesia |
| HP:0100134 | Abnormality of the axillary hair |
| HP:0100797 | Toenail dysplasia |
| HP:0010461 | Abnormality of the male genitalia |
| HP:0000044 | Hypogonadotropic hypogonadism |
| HP:0100568 | Neoplasm of the endocrine system |
| HP:0001646 | Abnormal aortic valve morphology |
| HP:0000813 | Bicornuate uterus |
| HP:0004380 | Aortic valve calcification |
| HP:0001650 | Aortic valve stenosis |
| HP:0000073 | Ureteral duplication |
| HP:0100651 | Type I diabetes mellitus |
| HP:0000819 | Diabetes mellitus |
| HP:0000573 | Retinal hemorrhage |
| HP:0005264 | Abnormality of the gallbladder |
| HP:0000475 | Broad neck |
| HP:0000089 | Renal hypoplasia |
| HP:0000921 | Missing ribs |
| HP:0001789 | Hydrops fetalis |
| HP:0002089 | Pulmonary hypoplasia |
| HP:0003422 | Vertebral segmentation defect |
| HP:0002323 | Anencephaly |
| HP:0000341 | Narrow forehead |
| HP:0002869 | Flared iliac wings |
| HP:0003100 | Slender long bone |
| HP:0003275 | Narrow pelvis bone |
| HP:0009891 | Underdeveloped supraorbital ridges |
| HP:0011039 | Abnormality of the helix |
| HP:0008572 | External ear malformation |
| HP:0009738 | Abnormality of the antihelix |
| HP:0011328 | Abnormality of fontanelles |
| HP:0012155 | Decreased corneal sensation |
| HP:0004602 | Cervical C2/C3 vertebral fusion |
| HP:0002997 | Abnormality of the ulna |
| HP:0009777 | Absent thumb |
| HP:0002893 | Pituitary adenoma |
| HP:0040278 | Prolactinoma |
| HP:0001555 | Asymmetry of the thorax |
| HP:0000902 | Rib fusion |
| HP:0002164 | Nail dysplasia |
| HP:0011314 | Abnormality of long bone morphology |
| HP:0002867 | Abnormality of the ilium |
| HP:0000774 | Narrow chest |
| HP:0006482 | Abnormality of dental morphology |
| HP:0004383 | Hypoplastic left heart |
| HP:0002015 | Dysphagia |
| HP:0500093 | Food allergy |
| HP:0001519 | Disproportionate tall stature |
| HP:0003179 | Protrusio acetabuli |
| HP:0007385 | Aplasia cutis congenita of scalp |
| HP:0000716 | Depressivity |
| HP:0012583 | Unilateral renal hypoplasia |
| HP:0000618 | Blindness |
| HP:0001004 | Lymphedema |
| HP:0002652 | Skeletal dysplasia |
| HP:0012520 | Perivascular spaces |
| HP:0005293 | Venous insufficiency |
| HP:0012432 | Chronic fatigue |
| HP:0002578 | Gastroparesis |
| HP:0001658 | Myocardial infarction |
| HP:0001802 | Absent toenail |
| HP:0001821 | Broad nail |
| HP:0000807 | Glandular hypospadias |
| HP:0100582 | Nasal polyposis |
| HP:0002653 | Bone pain |
| HP:0001073 | Cigarette-paper scars |
| HP:0031913 | Rhombencephalosynapsis |
| HP:0002617 | Dilatation |
| HP:0005107 | Abnormal sacrum morphology |
| HP:0002025 | Anal stenosis |
| HP:0009099 | Median cleft palate |
| HP:0003212 | Increased circulating IgE level |
| HP:0001319 | Neonatal hypotonia |
| HP:0002659 | Increased susceptibility to fractures |
| HP:0025246 | Trichilemmal cyst |
| HP:0002107 | Pneumothorax |
| HP:0000107 | Renal cyst |
| HP:0001025 | Urticaria |
| HP:0002204 | Pulmonary embolism |
| HP:0001058 | Poor wound healing |
| HP:0003010 | Prolonged bleeding time |
| HP:0100502 | Vitamin B12 deficiency |
| HP:0100510 | Low levels of vitamin C |
| HP:0030976 | Abnormal factor VIII activity |
| HP:0100789 | Torus palatinus |
| HP:0000108 | Renal corticomedullary cysts |
| HP:0000072 | Hydroureter |
| HP:0000019 | Urinary hesitancy |
| HP:0100771 | Hypoperistalsis |
| HP:0000021 | Megacystis |
| HP:0004388 | Microcolon |
| HP:0005247 | Hypoplasia of the abdominal wall musculature |
| HP:0004794 | Malrotation of small bowel |
| HP:0000045 | Abnormality of the scrotum |
| HP:0002236 | Frontal upsweep of hair |
| HP:0000212 | Gingival overgrowth |
| HP:0001808 | Fragile nails |
| HP:0000225 | Gingival bleeding |
| HP:0006009 | Broad phalanx |
| HP:0001837 | Broad toe |
| HP:0001946 | Ketosis |
| HP:0002490 | Increased CSF lactate |
| HP:0002922 | Increased CSF protein |
| HP:0003128 | Lactic acidosis |
| HP:0003111 | Abnormal blood ion concentration |
| HP:0032234 | Increased circulating creatine kinase MM isoform |
| HP:0003348 | Hyperalaninemia |
| HP:0008347 | Decreased activity of mitochondrial complex IV |
| HP:0000326 | Abnormality of the maxilla |
| HP:0010758 | Abnormality of the premaxilla |
| HP:0005681 | Juvenile rheumatoid arthritis |
| HP:0000514 | Slow saccadic eye movements |
| HP:0002788 | Recurrent upper respiratory tract infections |
| HP:0003396 | Syringomyelia |
| HP:0003011 | Abnormality of the musculature |
| HP:0002098 | Respiratory distress |
| HP:0002018 | Nausea |
| HP:0002014 | Diarrhea |
| HP:0025168 | Left ventricular diastolic dysfunction |
| HP:0001679 | Abnormal aortic morphology |
| HP:0000159 | Abnormal lip morphology |
| HP:0011338 | Abnormality of mouth shape |
| HP:0000478 | Abnormality of the eye |
| HP:0000154 | Wide mouth |
| HP:0001513 | Obesity |
| HP:0002475 | Myelomeningocele |
| HP:0003765 | Psoriasiform dermatitis |
| HP:0010289 | Cleft of alveolar ridge of maxilla |
| HP:0003908 | Corner fracture of metaphysis |
| HP:0002190 | Choroid plexus cyst |
| HP:0004370 | Abnormality of temperature regulation |
| HP:0011611 | Interrupted aortic arch |
| HP:0000737 | Irritability |
| HP:0001344 | Absent speech |
| HP:0002376 | Developmental regression |
| HP:0002140 | Ischemic stroke |
| HP:0001287 | Meningitis |
| HP:0002721 | Immunodeficiency |
| HP:0000041 | Chordee |
| HP:0012854 | Midshaft hypospadias |
| HP:0000808 | Penoscrotal hypospadias |
| HP:0000048 | Bifid scrotum |
| HP:0001047 | Atopic dermatitis |
| HP:0001621 | Weak voice |
| HP:0002372 | Normal interictal EEG |
| HP:0012803 | Anisometropia |
| HP:0011386 | Narrow internal auditory canal |
| HP:0012714 | Severe hearing impairment |
| HP:0006485 | Agenesis of incisor |
| HP:0000787 | Nephrolithiasis |
| HP:0011332 | Hemifacial hypoplasia |
| HP:0001909 | Leukemia |
| HP:0004808 | Acute myeloid leukemia |
| HP:0006495 | Aplasia/Hypoplasia of the ulna |
| HP:0001180 | Hand oligodactyly |
| HP:0002991 | Abnormality of fibula morphology |
| HP:0001849 | Foot oligodactyly |
| HP:0006507 | Aplasia/hypoplasia of the humerus |
| HP:0005613 | Aplasia/hypoplasia of the femur |
| HP:0006492 | Aplasia/Hypoplasia of the fibula |
| HP:0000098 | Tall stature |
| HP:0003311 | Hypoplasia of the odontoid process |
| HP:0005752 | Flattened moderately deformed vertebrae |
| HP:0030039 | Fused thoracic vertebrae |
| HP:0003304 | Spondylolysis |
| HP:0001659 | Aortic regurgitation |
| HP:0002984 | Hypoplasia of the radius |
| HP:0009944 | Partial duplication of thumb phalanx |
| HP:0005819 | Short middle phalanx of finger |
| HP:0002110 | Bronchiectasis |
| HP:0001677 | Coronary artery atherosclerosis |
| HP:0001737 | Pancreatic cysts |
| HP:0005113 | Aortic arch aneurysm |
| HP:0003022 | Hypoplasia of the ulna |
| HP:0002205 | Recurrent respiratory infections |
| HP:0001669 | Transposition of the great arteries |
| HP:0001716 | Wolff-Parkinson-White syndrome |
| HP:0002758 | Osteoarthritis |
| HP:0002037 | Inflammation of the large intestine |
| HP:0009892 | Anotia |
| HP:0011331 | Hemifacial atrophy |
| HP:0009118 | Aplasia/Hypoplasia of the mandible |
| HP:0009940 | Asymmetry of the mandible |
| HP:0000682 | Abnormality of dental enamel |
| HP:0009908 | Anterior creases of earlobe |
| HP:0001541 | Ascites |
| HP:0006687 | Aortic tortuosity |
| HP:0010535 | Sleep apnea |
| HP:0100633 | Esophagitis |
| HP:0002105 | Hemoptysis |
| HP:0002613 | Biliary cirrhosis |
| HP:0004469 | Chronic bronchitis |
| HP:0002720 | Decreased circulating IgA level |
| HP:0002904 | Hyperbilirubinemia |
| HP:0003237 | Increased circulating IgG level |
| HP:0003262 | Smooth muscle antibody positivity |
| HP:0011227 | Elevated C-reactive protein level |
| HP:0001852 | Sandal gap |
| HP:0004381 | Supravalvular aortic stenosis |
| HP:0100700 | Abnormal arachnoid mater morphology |
| HP:0002624 | Abnormal venous morphology |
| HP:0002289 | Alopecia universalis |
| HP:0009588 | Vestibular Schwannoma |
| HP:0001648 | Cor pulmonale |
| HP:0002091 | Restrictive ventilatory defect |
| HP:0002092 | Pulmonary arterial hypertension |
| HP:0002113 | Pulmonary infiltrates |
| HP:0003138 | Increased blood urea nitrogen |
| HP:0003259 | Elevated serum creatinine |
| HP:0005180 | Tricuspid regurgitation |
| HP:0012585 | Renal atrophy |
| HP:0005133 | Right ventricular dilatation |
| HP:0005575 | Hemolytic-uremic syndrome |
| HP:0001697 | Abnormal pericardium morphology |
| HP:0012486 | Myelitis |
| HP:0002385 | Paraparesis |
| HP:0006706 | Cystic liver disease |
| HP:0010880 | Increased nuchal translucency |
| HP:0000457 | Depressed nasal ridge |
| HP:0002263 | Exaggerated cupid's bow |
| HP:0002500 | Abnormality of the cerebral white matter |
| HP:0002835 | Aspiration |
| HP:0000600 | Abnormality of the pharynx |
| HP:0004327 | Abnormal vitreous humor morphology |
| HP:0004378 | Abnormality of the anus |
| HP:0012374 | obsolete Abnormal globe morphology |
| HP:0100768 | Choriocarcinoma |
| HP:0030991 | Sclerosing cholangitis |
| HP:0006510 | Chronic pulmonary obstruction |
| HP:0000710 | Hyperorality |
| HP:0001270 | Motor delay |
| HP:0001548 | Overgrowth |
| HP:0002311 | Incoordination |
| HP:0006288 | Advanced eruption of teeth |
| HP:0006323 | Premature loss of primary teeth |
| HP:0009890 | High anterior hairline |
| HP:0100034 | Motor tics |
| HP:0100035 | Phonic tics |
| HP:0000348 | High forehead |
| HP:0001520 | Large for gestational age |
| HP:0001239 | Wrist flexion contracture |
| HP:0007359 | Focal-onset seizure |
| HP:0000430 | Underdeveloped nasal alae |
| HP:0007400 | Irregular hyperpigmentation |
| HP:0100495 | Mastocytosis |
| HP:0012378 | Fatigue |
| HP:0002046 | Heat intolerance |
| HP:0003270 | Abdominal distention |
| HP:0002180 | Neurodegeneration |
| HP:0003493 | Antinuclear antibody positivity |
| HP:0030057 | Autoimmune antibody positivity |
| HP:0006802 | Abnormal anterior horn cell morphology |
| HP:0000064 | Hypoplastic labia minora |
| HP:0000338 | Hypomimic face |
| HP:0001642 | Pulmonic stenosis |
| HP:0011344 | Severe global developmental delay |
| HP:0200007 | Abnormal size of the palpebral fissures |
| HP:0004464 | Postauricular pit |
| HP:0000130 | Abnormality of the uterus |
| HP:0000137 | Abnormality of the ovary |
| HP:0000142 | Abnormal vagina morphology |
| HP:0000370 | Abnormality of the middle ear |
| HP:0011787 | Central hypothyroidism |
| HP:0000274 | Small face |
| HP:0000446 | Narrow nasal bridge |
| HP:0000622 | Blurred vision |
| HP:0001245 | Small thenar eminence |
| HP:0009601 | Aplasia/Hypoplasia of the thumb |
| HP:0011343 | Moderate global developmental delay |
| HP:0000419 | Abnormality of the nasal septum |
| HP:0000502 | Abnormal conjunctiva morphology |
| HP:0000591 | Abnormal sclera morphology |
| HP:0000615 | Abnormal pupil morphology |
| HP:0001163 | Abnormality of the metacarpal bones |
| HP:0001832 | Abnormal metatarsal morphology |
| HP:0001850 | Abnormality of the tarsal bones |
| HP:0010490 | Abnormality of the palmar creases |
| HP:0010881 | Abnormality of the umbilical cord |
| HP:0009113 | Diaphragmatic weakness |
| HP:0011664 | Left ventricular noncompaction cardiomyopathy |
| HP:0100240 | Synostosis of joints |
| HP:0001838 | Rocker bottom foot |
| HP:0003717 | Minimal subcutaneous fat |
| HP:0001339 | Lissencephaly |
| HP:0001591 | Bell-shaped thorax |
| HP:0002655 | Spondyloepiphyseal dysplasia |
| HP:0002983 | Micromelia |
| HP:0003016 | Metaphyseal widening |
| HP:0009826 | Limb undergrowth |
| HP:0004488 | Macrocephaly at birth |
| HP:0001695 | Cardiac arrest |
| HP:0001712 | Left ventricular hypertrophy |
| HP:0100775 | Dural ectasia |
| HP:0000846 | Adrenal insufficiency |
| HP:0002925 | Increased thyroid-stimulating hormone level |
| HP:0100646 | Thyroiditis |
| HP:0000836 | Hyperthyroidism |
| HP:0004414 | Abnormality of the pulmonary artery |
| HP:0000465 | Webbed neck |
| HP:0000723 | Restrictive behavior |
| HP:0002253 | Colonic diverticula |
| HP:0001310 | Dysmetria |
| HP:0000093 | Proteinuria |
| HP:0002907 | Microscopic hematuria |
| HP:0003073 | Hypoalbuminemia |
| HP:0004315 | Decreased circulating IgG level |
| HP:0000795 | Abnormality of the urethra |
| HP:0001015 | Prominent superficial veins |
| HP:0004691 | 2-3 toe syndactyly |
| HP:0005328 | Progeroid facial appearance |
| HP:0005487 | Prominent metopic ridge |
| HP:0007552 | Abnormal subcutaneous fat tissue distribution |
| HP:0100678 | Premature skin wrinkling |
| HP:0031137 | Storage in hepatocytes |
| HP:0002521 | Hypsarrhythmia |
| HP:0005390 | Recurrent opportunistic infections |
| HP:0002716 | Lymphadenopathy |
| HP:0005379 | obsolete Severe T lymphocytopenia |
| HP:0004432 | Agammaglobulinemia |
| HP:0006695 | Atrioventricular canal defect |
| HP:0001733 | Pancreatitis |
| HP:0002350 | Cerebellar cyst |
| HP:0012110 | Hypoplasia of the pons |
| HP:0001948 | Alkalosis |
| HP:0003113 | Hypochloremia |
| HP:0003155 | Elevated alkaline phosphatase |
| HP:0003542 | Increased serum pyruvate |
| HP:0000421 | Epistaxis |
| HP:0200136 | Oral-pharyngeal dysphagia |
| HP:0000805 | Enuresis |
| HP:0005616 | Accelerated skeletal maturation |
| HP:0002459 | obsolete Dysautonomia |
| HP:0007302 | Bipolar affective disorder |
| HP:0100602 | Preeclampsia |
| HP:0100508 | Abnormality of vitamin metabolism |
| HP:0001140 | Limbal dermoid |
| HP:0000143 | Rectovaginal fistula |
| HP:0001746 | Asplenia |
| HP:0012715 | Profound hearing impairment |
| HP:0001748 | Polysplenia |
| HP:0003072 | Hypercalcemia |
| HP:0002905 | Hyperphosphatemia |
| HP:0002901 | Hypocalcemia |
| HP:0001367 | Abnormal joint morphology |
| HP:0010562 | Keloids |
| HP:0004430 | Severe combined immunodeficiency |
| HP:0000003 | Multicystic kidney dysplasia |
| HP:0010980 | Hyperlipoproteinemia |
| HP:0002155 | Hypertriglyceridemia |
| HP:0000520 | Proptosis |
| HP:0000180 | Lobulated tongue |
| HP:0005486 | Small fontanelle |
| HP:0000891 | Cervical ribs |
| HP:0002557 | Hypoplastic nipples |
| HP:0009112 | Aplasia of the left hemidiaphragm |
| HP:0001719 | Double outlet right ventricle |
| HP:0001682 | Subvalvular aortic stenosis |
| HP:0001667 | Right ventricular hypertrophy |
| HP:0002101 | Abnormal lung lobation |
| HP:0002202 | Pleural effusion |
| HP:0002566 | Intestinal malrotation |
| HP:0004510 | Pancreatic islet-cell hyperplasia |
| HP:0001747 | Accessory spleen |
| HP:0002181 | Cerebral edema |
| HP:0000967 | Petechiae |
| HP:0009702 | Carpal synostosis |
| HP:0000927 | Abnormality of skeletal maturation |
| HP:0004348 | Abnormality of bone mineral density |
| HP:0003019 | Abnormality of the wrist |
| HP:0003063 | Abnormality of the humerus |
| HP:0001059 | Pterygium |
| HP:0001528 | Hemihypertrophy |
| HP:0011228 | Horizontal eyebrow |
| HP:0000766 | Abnormality of the sternum |
| HP:0001254 | Lethargy |
| HP:0002360 | Sleep disturbance |
| HP:0001063 | Acrocyanosis |
| HP:0001769 | Broad foot |
| HP:0010280 | Stomatitis |
| HP:0001288 | Gait disturbance |
| HP:0008330 | Reduced von Willebrand factor activity |
| HP:0001954 | Recurrent fever |
| HP:0004311 | Abnormal macrophage morphology |
| HP:0012539 | Non-Hodgkin lymphoma |
| HP:0002074 | Increased neuronal autofluorescent lipopigment |
| HP:0002973 | Abnormality of the forearm |
| HP:0003203 | Impaired oxidative burst |
| HP:0003027 | Mesomelia |
| HP:0002754 | Osteomyelitis |
| HP:0004431 | Complement deficiency |
| HP:0001258 | Spastic paraplegia |
| HP:0012811 | Wide nasal ridge |
| HP:0011832 | Narrow nasal tip |
| HP:0000288 | Abnormality of the philtrum |
| HP:0002357 | Dysphasia |
| HP:0000871 | Panhypopituitarism |
| HP:0000233 | Thin vermilion border |
| HP:0003281 | Increased serum ferritin |
| HP:0010752 | Cleft mandible |
| HP:0000437 | Depressed nasal tip |
| HP:0000453 | Choanal atresia |
| HP:0000863 | Central diabetes insipidus |
| HP:0000058 | Abnormality of the labia |
| HP:0007418 | Alopecia totalis |
| HP:0100765 | Abnormality of the tonsils |
| HP:0100747 | Macrodactyly of toe |
| HP:0002109 | obsolete Abnormality of the bronchi |
| HP:0011950 | Bronchiolitis |
| HP:0002850 | Decreased circulating total IgM |
| HP:0001395 | Hepatic fibrosis |
| HP:0010701 | Abnormal immunoglobulin level |
| HP:0009928 | Thick nasal alae |
| HP:0010807 | Open bite |
| HP:0002126 | Polymicrogyria |
| HP:0002900 | Hypokalemia |
| HP:0000155 | Oral ulcer |
| HP:0000135 | Hypogonadism |
| HP:0100783 | Breast aplasia |
| HP:0000336 | Prominent supraorbital ridges |
| HP:0010557 | Overlapping fingers |
| HP:0005100 | Premature birth following premature rupture of fetal membranes |
| HP:0002594 | Pancreatic hypoplasia |
| HP:0010109 | Short hallux |
| HP:0002334 | Abnormality of the cerebellar vermis |
| HP:0003326 | Myalgia |
| HP:0001645 | Sudden cardiac death |
| HP:0001612 | Weak cry |
| HP:0001618 | Dysphonia |
| HP:0001336 | Myoclonus |
| HP:0001283 | Bulbar palsy |
| HP:0002080 | Intention tremor |
| HP:0002174 | Postural tremor |
| HP:0002064 | Spastic gait |
| HP:0009800 | Maternal diabetes |
| HP:0001662 | Bradycardia |
| HP:0006595 | Scapulohumeral synostosis |
| HP:0005815 | Supernumerary ribs |
| HP:0000307 | Pointed chin |
| HP:0012371 | Hyperplasia of midface |
| HP:0002643 | Neonatal respiratory distress |
| HP:0002093 | Respiratory insufficiency |
| HP:0010310 | Chylothorax |
| HP:0006376 | Limited elbow flexion |
| HP:0006467 | Limited shoulder movement |
| HP:0010505 | Limitation of movement at ankles |
| HP:0010501 | Limitation of knee mobility |
| HP:0009896 | Abnormality of the antitragus |
| HP:0004404 | Abnormal nipple morphology |
| HP:0011957 | Abnormal pectoral muscle morphology |
| HP:0000777 | Abnormality of the thymus |
| HP:0000418 | Narrow nasal ridge |
| HP:0001572 | Macrodontia |
| HP:0002967 | Cubitus valgus |
| HP:0000988 | Skin rash |
| HP:0009733 | Glioma |
| HP:0012452 | Restless legs |
| HP:0100031 | Neoplasm of the thyroid gland |
| HP:0030127 | Endometriosis |
| HP:0000123 | Nephritis |
| HP:0001974 | Leukocytosis |
| HP:0010976 | B lymphocytopenia |
| HP:0000010 | Recurrent urinary tract infections |
| HP:0100807 | Long fingers |
| HP:0000653 | Sparse eyelashes |
| HP:0000171 | Microglossia |
| HP:0002575 | Tracheoesophageal fistula |
| HP:0009933 | Narrow naris |
| HP:0000883 | Thin ribs |
| HP:0000121 | Nephrocalcinosis |
| HP:0001349 | Facial diplegia |
| HP:0012037 | Pectoralis amyotrophy |
| HP:0100560 | Upper limb asymmetry |
| HP:0005684 | Distal arthrogryposis |
| HP:0010722 | Asymmetry of the ears |
| HP:0009380 | Aplasia of the fingers |
| HP:0001657 | Prolonged QT interval |
| HP:0002040 | Esophageal varix |
| HP:0000613 | Photophobia |
| HP:0000561 | Absent eyelashes |
| HP:0002223 | Absent eyebrow |
| HP:0002591 | Polyphagia |
| HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) |
| HP:0002419 | Molar tooth sign on MRI |
| HP:0001010 | Hypopigmentation of the skin |
| HP:0005772 | Aplasia/Hypoplasia of the tibia |
| HP:0002211 | White forelock |
| HP:0007126 | Proximal amyotrophy |
| HP:0003798 | Nemaline bodies |
| HP:0006533 | Bronchodysplasia |
| HP:0003391 | Gowers sign |
| HP:0000771 | Gynecomastia |
| HP:0100785 | Insomnia |
| HP:0010529 | Echolalia |
| HP:0000363 | Abnormality of earlobe |
| HP:0002612 | Congenital hepatic fibrosis |
| HP:0006721 | Acute lymphoblastic leukemia |
| HP:0001958 | Nonketotic hypoglycemia |
| HP:0003457 | EMG abnormality |
| HP:0010636 | Schizencephaly |
| HP:0005266 | Intestinal polyp |
| HP:0200063 | Colorectal polyposis |
| HP:0001762 | Talipes equinovarus |
| HP:0000056 | Abnormality of the clitoris |
| HP:0008655 | Aplasia/Hypoplasia of the fallopian tube |
| HP:0002072 | Chorea |
| HP:0008734 | Decreased testicular size |
| HP:0002136 | Broad-based gait |
| HP:0010958 | Bilateral renal agenesis |
| HP:0002510 | Spastic tetraplegia |
| HP:0003234 | Decreased plasma carnitine |
| HP:0000720 | Mood swings |
| HP:0012638 | Abnormal nervous system physiology |
| HP:0002803 | Congenital contracture |
| HP:0000152 | Abnormality of head or neck |
| HP:0004377 | Hematological neoplasm |
| HP:0100006 | Neoplasm of the central nervous system |
| HP:0012759 | Neurodevelopmental abnormality |
| HP:0011805 | Abnormal skeletal muscle morphology |
| HP:0003634 | Amyoplasia |
| HP:0001507 | Growth abnormality |
| HP:0001939 | Abnormality of metabolism/homeostasis |
| HP:0011013 | Abnormal circulating carbohydrate concentration |
| HP:0410008 | Abnormality of the peripheral nervous system |
| HP:0200134 | Epileptic encephalopathy |
| HP:0001881 | Abnormal leukocyte morphology |
| HP:0005549 | obsolete Congenital neutropenia |
| HP:0004439 | Craniofacial dysostosis |
| HP:0012443 | Abnormality of brain morphology |
| HP:0000202 | Oral cleft |
| HP:0011842 | Abnormality of skeletal morphology |
| HP:0003808 | Abnormal muscle tone |
| HP:0001574 | Abnormality of the integument |
| HP:0030056 | Uncombable hair |
| HP:0003549 | Abnormality of connective tissue |
| HP:0030875 | Abnormality of pulmonary circulation |
| HP:0000118 | Phenotypic abnormality |
| HP:0012469 | Infantile spasms |
| HP:0032894 | Seizure precipitated by febrile infection |
| HP:0100661 | Trigeminal neuralgia |
| HP:0012207 | Reduced sperm motility |
| HP:0000798 | Oligospermia |
| HP:0012864 | Abnormal sperm morphology |
| HP:0008232 | Elevated circulating follicle stimulating hormone level |
| HP:0040306 | Decreased male libido |
| HP:0012208 | Immotile sperm |
| HP:0000027 | Azoospermia |
| HP:0000870 | Increased circulating prolactin concentration |
| HP:0008187 | Absence of secondary sex characteristics |
| HP:0010469 | Absent testis |
| HP:0011969 | Elevated circulating luteinizing hormone level |
| HP:0040171 | Decreased serum testosterone level |
| HP:0003251 | Male infertility |
| HP:0009804 | Reduced number of teeth |
| HP:0000548 | Cone/cone-rod dystrophy |
| HP:0000546 | Retinal degeneration |
| HP:0008002 | Abnormality of macular pigmentation |
| HP:0000608 | Macular degeneration |
| HP:0030611 | Retinal pigment epithelial loss on macular OCT |
| HP:0001135 | Chorioretinal dystrophy |
| HP:0030468 | Abnormal multifocal electroretinogram |
| HP:00030532 | Visual acuity test abnormality |
| HP:0007401 | Macular atrophy |
| HP:0030466 | Abnormal full-field electroretinogram |
| HP:007737 | Bone spicule pigmentation of the retina |
| HP:0011342 | Mild global developmental delay |
| HP:0030610 | Photoreceptor outer segment loss on macular OCT |
| HP:0007722 | Retinal pigment epithelial atrophy |
| HP:0030493 | Abnormality of foveal pigmentation |
| HP:0007843 | Attenuation of retinal blood vessels |
| HP:0007754 | Macular dystrophy |
| HP:0011509 | Macular hyperpigmentation |
| HP:0008527 | Congenital sensorineural hearing impairment |
| HP:0200070 | Peripheral retinal atrophy |
| HP:0007793 | Granular macular appearance |
| HP:0007987 | Progressive visual field defects |
| HP:0100817 | Renovascular hypertension |
| HP:0007868 | obsolete Age-related macular degeneration |
| HP:0030527 | Very severe constriction of peripheral visual field |
| HP:0030551 | Visual acuity light perception with projection |
| HP:0011505 | Cystoid macular edema |
| HP:0010442 | Polydactyly |
| HP:0007642 | Congenital stationary night blindness |
| HP:0009073 | Progressive proximal muscle weakness |
| HP:0003741 | Congenital muscular dystrophy |
| HP:0100299 | Muscle fiber inclusion bodies |
| HP:0003540 | Impaired platelet aggregation |
| HP:0010489 | Absent palmar crease |
| HP:0009824 | Upper limb undergrowth |
| HP:0002395 | Lower limb hyperreflexia |
| HP:0001138 | Optic neuropathy |
| HP:0007103 | Hypointensity of cerebral white matter on MRI |
| HP:0003458 | EMG: myopathic abnormalities |
| HP:0002987 | Elbow flexion contracture |
| HP:0006466 | Ankle flexion contracture |
| HP:0008458 | Progressive congenital scoliosis |
| HP:0000473 | Torticollis |
| HP:0011800 | Midface retrusion |
| HP:0000597 | Ophthalmoparesis |
| HP:0005853 | Congenital foot contraction deformities |
| HP:0007002 | Motor axonal neuropathy |
| HP:0003327 | Axial muscle weakness |
| HP:0003306 | Spinal rigidity |
| HP:0002068 | Neuromuscular dysphagia |
| HP:0001002 | obsolete Decreased subcutaneous fat |
| HP:0002880 | obsolete Respiratory difficulties |
| HP:0006829 | Severe muscular hypotonia |
| HP:0011448 | Ankle clonus |
| HP:0003487 | Babinski sign |
| HP:0002378 | Hand tremor |
| HP:0002747 | Respiratory insufficiency due to muscle weakness |
| HP:0002579 | Gastrointestinal dysmotility |
| HP:0001041 | Facial erythema |
| HP:0040180 | Hyperkeratosis pilaris |
| HP:0001382 | Joint hypermobility |
| HP:0003722 | Neck flexor weakness |
| HP:0003323 | Progressive muscle weakness |
| HP:0002380 | Fasciculations |
| HP:0012785 | Flexion contracture of finger |
| HP:0007936 | Restrictive external ophthalmoplegia |
| HP:0030319 | Weakness of facial musculature |
| HP:0008936 | Muscular hypotonia of the trunk |
| HP:0030230 | Central core regions in muscle fibers |
| HP:0011471 | Gastrostomy tube feeding in infancy |
| HP:0001290 | Generalized hypotonia |
| HP:0002421 | Poor head control |
| HP:0010301 | Spinal dysraphism |
| HP:0004303 | Abnormal muscle fiber morphology |
| HP:0009046 | Difficulty running |
| HP:0003715 | Myofibrillar myopathy |
| HP:0000467 | Neck muscle weakness |
| HP:0001999 | Abnormal facial shape |
| HP:0002751 | Kyphoscoliosis |
| HP:0030223 | Perseveration |
| HP:0002344 | Progressive neurologic deterioration |
| HP:0002522 | Areflexia of lower limbs |
| HP:0003805 | Rimmed vacuoles |
| HP:0005781 | Contractures of the large joints |
| HP:0040083 | Toe walking |
| HP:0003749 | Pelvic girdle muscle weakness |
| HP:0012444 | Brain atrophy |
| HP:0003738 | Exercise-induced myalgia |
| HP:0003756 | Skeletal myopathy |
| HP:0002492 | Morphological abnormality of the corticospinal tract |
| HP:0100302 | Muscle fiber tubuloreticular inclusions |
| HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis |
| HP:0003473 | Fatigable weakness |
| HP:0002077 | Migraine with aura |
| HP:0100559 | Lower limb asymmetry |
| HP:0002079 | Hypoplasia of the corpus callosum |
| HP:0002804 | Arthrogryposis multiplex congenita |
| HP:0011623 | Muscular ventricular septal defect |
| HP:0002191 | Progressive spasticity |
| HP:0003390 | Sensory axonal neuropathy |
| HP:0006986 | Upper limb spasticity |
| HP:0002464 | Spastic dysarthria |
| HP:0001308 | Tongue fasciculations |
| HP:0007010 | Poor fine motor coordination |
| HP:0003737 | Mitochondrial myopathy |
| HP:0008012 | obsolete Congenital myopia |
| HP:0008872 | Feeding difficulties in infancy |
| HP:0005750 | Contractures of the joints of the lower limbs |
| HP:0009067 | Progressive spinal muscular atrophy |
| HP:0001623 | Breech presentation |
| HP:0001374 | Congenital hip dislocation |
| HP:0002359 | Frequent falls |
| HP:0003803 | Type 1 muscle fiber predominance |
| HP:0011410 | Caesarian section |
| HP:0008947 | Infantile muscular hypotonia |
| HP:0100501 | Recurrent bronchiolitis |
| HP:0003789 | Minicore myopathy |
| HP:0000544 | External ophthalmoplegia |
| HP:0001605 | Vocal cord paralysis |
| HP:0003712 | Skeletal muscle hypertrophy |
| HP:0012507 | Weakness of orbicularis oculi muscle |
| HP:0009816 | Lower limb undergrowth |
| HP:0008935 | Generalized neonatal hypotonia |
| HP:0003484 | Upper limb muscle weakness |
| HP:0008331 | Elevated creatine kinase after exercise |
| HP:0001315 | Reduced tendon reflexes |
| HP:0012473 | Tongue atrophy |
| HP:0003273 | Hip contracture |
| HP:0006380 | Knee flexion contracture |
| HP:0003752 | Episodic flaccid weakness |
| HP:0100298 | Motheaten muscle fibers |
| HP:0003693 | Distal amyotrophy |
| HP:0002167 | Neurological speech impairment |
| HP:0003388 | Easy fatigability |
| HP:0001348 | Brisk reflexes |
| HP:0003445 | EMG: neuropathic changes |
| HP:0009063 | Progressive distal muscle weakness |
| HP:0003720 | Generalized muscle hypertrophy |
| HP:0002493 | Upper motor neuron dysfunction |
| HP:0012448 | Delayed myelination |
| HP:0001338 | Partial agenesis of the corpus callosum |
| HP:0006879 | Pontocerebellar atrophy |
| HP:0200101 | Decreased/absent ankle reflexes |
| HP:0009020 | Exercise-induced muscle fatigue |
| HP:0002067 | Bradykinesia |
| HP:0012751 | Abnormal basal ganglia MRI signal intensity |
| HP:0003355 | Aminoaciduria |
| HP:0012450 | Chronic constipation |
| HP:0011834 | Moyamoya phenomenon |
| HP:0001297 | Stroke |
| HP:0200049 | Upper limb hypertonia |
| HP:0008981 | Calf muscle hypertrophy |
| HP:0006785 | Limb-girdle muscular dystrophy |
| HP:0006957 | Loss of ability to walk |
| HP:0030098 | Reduced muscle dystrophin expression |
| HP:0030115 | Reduced muscle fiber dysferlin |
| HP:0002058 | Myopathic facies |
| HP:0007858 | Chorioretinal lacunae |
| HP:0006657 | Hypoplasia of first ribs |
| HP:0007165 | Periventricular heterotopia |
| HP:0009779 | 3-4 toe syndactyly |
| HP:0010665 | Bilateral coxa valga |
| HP:0007598 | Bilateral single transverse palmar creases |
| HP:0006101 | Finger syndactyly |
| HP:0010511 | Long toe |
| HP:0002370 | Poor coordination |
| HP:0000480 | Retinal coloboma |
| HP:0001770 | Toe syndactyly |
| HP:0010851 | EEG with burst suppression |
| HP:0002791 | Hypoventilation |
| HP:0040075 | Hypopituitarism |
| HP:0012506 | Small pituitary gland |
| HP:0000538 | Pseudopapilledema |
| HP:0012717 | Severe conductive hearing impairment |
| HP:0001370 | Rheumatoid arthritis |
| HP:0000016 | Urinary retention |
| HP:0012537 | Food intolerance |
| HP:0011297 | Abnormal digit morphology |
| HP:0001273 | Abnormal corpus callosum morphology |
| HP:0030148 | Heart murmur |
| HP:0045018 | Partial duplication of eyebrows |
| HP:0008998 | Pectoralis hypoplasia |
| HP:0001707 | Abnormal right ventricle morphology |
| HP:0001540 | Diastasis recti |
| HP:0100693 | Iridodonesis |
| HP:0002265 | Large fleshy ears |
| HP:0001132 | Lens subluxation |
| HP:0004927 | Pulmonary artery dilatation |
| HP:0005619 | Thoracolumbar kyphosis |
| HP:0008619 | Bilateral sensorineural hearing impairment |
| HP:0001045 | Vitiligo |
| HP:0009124 | Abnormal adipose tissue morphology |
| HP:0002979 | Bowing of the legs |
| HP:0000455 | Broad nasal tip |
| HP:0001007 | Hirsutism |
| HP:0010314 | Premature thelarche |
| HP:0000075 | Renal duplication |
| HP:0000368 | Low-set, posteriorly rotated ears |
| HP:0001052 | Nevus flammeus |
| HP:0200048 | Cyanotic episode |
| HP:0001902 | Giant platelets |
| HP:0030043 | Hip subluxation |
| HP:0002938 | Lumbar hyperlordosis |
| HP:0030084 | Clinodactyly |
| HP:0005560 | Imbalanced hemoglobin synthesis |
| HP:0001539 | Omphalocele |
| HP:0009778 | Short thumb |
| HP:0002277 | Horner syndrome |
| HP:0011701 | Multifocal atrial tachycardia |
| HP:0005274 | Prominent nasal tip |
| HP:0001262 | Excessive daytime somnolence |
| HP:0001285 | Spastic tetraparesis |
| HP:0012171 | Stereotypical hand wringing |
| HP:0002518 | Abnormality of the periventricular white matter |
| HP:0005692 | Joint hyperflexibility |
| HP:0007440 | Generalized hyperpigmentation |
| HP:0001805 | Onychogryposis |
| HP:0011945 | Bronchiolitis obliterans organizing pneumonia |
| HP:0003763 | Bruxism |
| HP:0010500 | Hyperextensibility of the knee |
| HP:0040115 | Abnormality of the Eustachian tube |
| HP:0008751 | Laryngeal cleft |
| HP:0000403 | Recurrent otitis media |
| HP:0001787 | Abnormal delivery |
| HP:0002571 | Achalasia |
| HP:0002615 | Hypotension |
| HP:0003550 | Predominantly lower limb lymphedema |
| HP:0030363 | Primary Caesarian section |
| HP:0001727 | Thromboembolic stroke |
| HP:0100603 | Toxemia of pregnancy |
| HP:0010836 | Abnormal circulating copper concentration |
| HP:0000356 | Abnormality of the outer ear |
| HP:0002197 | Generalized-onset seizure |
| HP:0011436 | Abnormal maternal serum screening |
| HP:0003517 | Birth length greater than 97th percentile |
| HP:0003561 | Birth length less than 3rd percentile |
| HP:0012188 | Hyperemesis gravidarum |
| HP:0010519 | Increased fetal movement |
| HP:0030244 | Maternal fever in pregnancy |
| HP:0008071 | Maternal hypertension |
| HP:0100622 | Maternal seizure |
| HP:0011438 | Maternal teratogenic exposure |
| HP:0001998 | Neonatal hypoglycemia |
| HP:0040187 | Neonatal sepsis |
| HP:0002033 | Poor suck |
| HP:0006579 | Prolonged neonatal jaundice |
| HP:0001724 | obsolete Aortic dilatation |
| HP:0010621 | Cutaneous syndactyly of toes |
| HP:0001880 | Eosinophilia |
| HP:0000162 | Glossoptosis |
| HP:0100578 | Lipoatrophy |
| HP:0002562 | Low-set nipples |
| HP:0012893 | Neck muscle hypertrophy |
| HP:0001027 | Soft, doughy skin |
| HP:0100738 | Abnormal eating behavior |
| HP:0007328 | Impaired pain sensation |
| HP:0002878 | Respiratory failure |
| HP:0001776 | Bilateral talipes equinovarus |
| HP:0001360 | Holoprosencephaly |
| HP:0001973 | Autoimmune thrombocytopenia |
| HP:0100749 | Chest pain |
| HP:0012531 | Pain |
| HP:0007585 | Skin fragility with non-scarring blistering |
| HP:0002108 | Spontaneous pneumothorax |
| HP:0006562 | Viral hepatitis |
| HP:0012647 | Abnormal inflammatory response |
| HP:0012088 | Abnormal urinary odor |
| HP:0011458 | Abdominal symptom |
| HP:0002829 | Arthralgia |
| HP:0010783 | Erythema |
| HP:0010307 | Stridor |
| HP:0001269 | Hemiparesis |
| HP:0006532 | Recurrent pneumonia |
| HP:0002580 | Volvulus |
| HP:0012387 | Bronchitis |
| HP:0001266 | Choreoathetosis |
| HP:0001531 | Failure to thrive in infancy |
| HP:0011470 | Nasogastric tube feeding in infancy |
| HP:0001361 | Nystagmus-induced head nodding |
| HP:0001997 | Gout |
| HP:0000965 | Cutis marmorata |
| HP:0010316 | Ebstein anomaly of the tricuspid valve |
| HP:0010543 | Opsoclonus |
| HP:0007704 | Paroxysmal involuntary eye movements |
| HP:0030364 | Secondary Caesarian section |
| HP:0007738 | Uncontrolled eye movements |
| HP:0030366 | Delivery by Odon device |
| HP:0011411 | Forceps delivery |
| HP:0030369 | Induced vaginal delivery |
| HP:0005268 | Spontaneous abortion |
| HP:0030365 | Vaginal birth after Caesarian |
| HP:0011412 | Ventouse delivery |
| HP:0002572 | Episodic vomiting |
| HP:0030350 | Erythematous papule |
| HP:0001386 | Joint swelling |
| HP:0000147 | Polycystic ovaries |
| HP:0012412 | Premature adrenarche |
| HP:0004411 | Deviated nasal septum |
| HP:0040183 | Encopresis |
| HP:0100507 | Reduced blood folate concentration |
| HP:0007011 | Fourth cranial nerve palsy |
| HP:0000375 | Abnormal cochlea morphology |
| HP:0009911 | Abnormal temporal bone morphology |
| HP:0000081 | Duplicated collecting system |
| HP:0006894 | Hypoplastic olfactory lobes |
| HP:0011380 | Morphological abnormality of the semicircular canal |
| HP:0000110 | Renal dysplasia |
| HP:0030025 | Auricular pit |
| HP:0010044 | Short 4th metacarpal |
| HP:0010047 | Short 5th metacarpal |
| HP:0000201 | Pierre-Robin sequence |
| HP:0100837 | Atrophodermia vermiculata |
| HP:0002673 | Coxa valga |
| HP:0001476 | Delayed closure of the anterior fontanelle |
| HP:0011069 | Increased number of teeth |
| HP:0009879 | Simplified gyral pattern |
| HP:0006315 | Single median maxillary incisor |
| HP:0001194 | Abnormalities of placenta or umbilical cord |
| HP:0100767 | Abnormal placenta morphology |
| HP:0006543 | Cardiorespiratory arrest |
| HP:0003074 | Hyperglycemia |
| HP:0000842 | Hyperinsulinemia |
| HP:0011951 | Aspiration pneumonia |
| HP:0006528 | Chronic lung disease |
| HP:0002383 | Encephalitis |
| HP:0000388 | Otitis media |
| HP:0002530 | Axial dystonia |
| HP:0002780 | Bronchomalacia |
| HP:0008755 | Laryngotracheomalacia |
| HP:0000308 | Microretrognathia |
| HP:0002786 | Tracheobronchomalacia |
| HP:0012389 | Appendicular hypotonia |
| HP:0011323 | Cleft of chin |
| HP:0000417 | Slender nose |
| HP:0001863 | Toe clinodactyly |
| HP:0008386 | Aplasia/Hypoplasia of the nails |
| HP:0006989 | Dysplastic corpus callosum |
| HP:0100954 | Open operculum |
| HP:0004482 | Relative macrocephaly |
| HP:3000033 | Abnormal nasopharyngeal adenoid morphology |
| HP:0009062 | Infantile axial hypotonia |
| HP:0002189 | obsolete Excessive daytime sleepiness |
| HP:0002141 | Gait imbalance |
| HP:0012734 | Ketotic hypoglycemia |
| HP:0005968 | Temperature instability |
| HP:0012538 | Gluten intolerance |
| HP:0000979 | Purpura |
| HP:0001988 | Recurrent hypoglycemia |
| HP:0001488 | Bilateral ptosis |
| HP:0011229 | Broad eyebrow |
| HP:0004440 | Coronal craniosynostosis |
| HP:0004453 | Overfolding of the superior helices |
| HP:0012547 | Abnormal involuntary eye movements |
| HP:0100814 | Blue nevus |
| HP:0010751 | Dimple chin |
| HP:0007087 | obsolete Involuntary jerking movements |
| HP:0012498 | Nuchal cord |
| HP:0002472 | Small cerebral cortex |
| HP:0100307 | Cerebellar hemisphere hypoplasia |
| HP:0002151 | Increased serum lactate |
| HP:0001698 | Pericardial effusion |
| HP:0006903 | Congenital peripheral neuropathy |
| HP:0006895 | Lower limb hypertonia |
| HP:0002744 | Bilateral cleft lip and palate |
| HP:0010664 | Fusion of the left and right thalami |
| HP:0000327 | Hypoplasia of the maxilla |
| HP:0000474 | Thickened nuchal skin fold |
| HP:0000105 | Enlarged kidney |
| HP:0000113 | Polycystic kidney dysplasia |
| HP:0000104 | Renal agenesis |
| HP:0001362 | Calvarial skull defect |
| HP:0008245 | Pituitary hypothyroidism |
| HP:0001552 | Barrel-shaped chest |
| HP:0006297 | Hypoplasia of dental enamel |
| HP:0100023 | Recurrent hand flapping |
| HP:0005518 | Increased mean corpuscular volume |
| HP:0012418 | Hypoxemia |
| HP:0100259 | Postaxial polydactyly |
| HP:0010814 | Abnormal position of hair whorl |
| HP:0003764 | Nevus |
| HP:0000445 | Wide nose |
| HP:0010677 | Enuresis nocturna |
| HP:0001510 | Growth delay |
| HP:0012428 | Prominent calcaneus |
| HP:0012471 | Thick vermilion border |
| HP:0007110 | Central hypoventilation |
| HP:0010614 | Fibroma |
| HP:0001034 | Hypermelanotic macule |
| HP:0011365 | Patchy hypopigmentation of hair |
| HP:0001920 | Renal artery stenosis |
| HP:0002828 | Multiple joint contractures |
| HP:0002144 | Tethered cord |
| HP:0010964 | Abnormal circulating long-chain fatty-acid concentration |
| HP:0010536 | Central sleep apnea |
| HP:0011262 | Crimped helix |
| HP:0040079 | Irregular dentition |
| HP:0011481 | Abnormal lacrimal duct morphology |
| HP:0000220 | Velopharyngeal insufficiency |
| HP:0002153 | Hyperkalemia |
| HP:0002148 | Hypophosphatemia |
| HP:0012621 | Persistent cloaca |
| HP:0000867 | Secondary hyperparathyroidism |
| HP:0003762 | Uterus didelphys |
| HP:0100512 | Low levels of vitamin D |
| HP:0012156 | Hemophagocytosis |
| HP:0008209 | Premature ovarian insufficiency |
| HP:0004349 | Reduced bone mineral density |
| HP:0001924 | Sideroblastic anemia |
| HP:0011703 | Sinus tachycardia |
| HP:0010609 | Skin tags |
| HP:0002725 | Systemic lupus erythematosus |
| HP:0003193 | Allergic rhinitis |
| HP:0006896 | Hypnopompic hallucinations |
| HP:0002524 | Cataplexy |
| HP:0005227 | Adenomatous colonic polyposis |
| HP:0012173 | Orthostatic tachycardia |
| HP:0001271 | Polyneuropathy |
| HP:0009120 | Aplasia/Hypoplasia involving the sinuses |
| HP:0000625 | Eyelid coloboma |
| HP:0009754 | Fibrous syngnathia |
| HP:0012478 | Temporomandibular joint ankylosis |
| HP:0001233 | 2-3 finger syndactyly |
| HP:0000811 | Abnormal external genitalia |
| HP:0005120 | Abnormal cardiac atrium morphology |
| HP:0008388 | Abnormal toenail morphology |
| HP:0011467 | Absent gallbladder |
| HP:0010760 | Absent toe |
| HP:0001545 | Anteriorly placed anus |
| HP:0001640 | Cardiomegaly |
| HP:0002990 | Fibular aplasia |
| HP:0004443 | Lambdoidal craniosynostosis |
| HP:0008569 | Microtia, second degree |
| HP:0006277 | Pancreatic hyperplasia |
| HP:0010445 | Primum atrial septal defect |
| HP:0011640 | Single coronary artery origin |
| HP:0011608 | Type II truncus arteriosus |
| HP:0011327 | Posterior plagiocephaly |
| HP:0007655 | Eversion of lateral third of lower eyelids |
| HP:0010747 | Medial flaring of the eyebrow |
| HP:0005957 | Breathing dysregulation |
| HP:0000992 | Cutaneous photosensitivity |
| HP:0011995 | Atrial septal dilatation |
| HP:0000377 | Abnormality of the pinna |
| HP:0011266 | Microtia, first degree |
| HP:0012650 | Perisylvian polymicrogyria |
| HP:0004970 | Ascending tubular aorta aneurysm |
| HP:0008348 | Decreased circulating IgG2 level |
| HP:0012115 | Hepatitis |
| HP:0006979 | Sleep-wake cycle disturbance |
| HP:0008587 | Mild neurosensory hearing impairment |
| HP:0006097 | 3-4 finger syndactyly |
| HP:0005263 | Gastritis |
| HP:0200043 | Verrucae |
| HP:0009600 | Flexion contracture of thumb |
| HP:0010818 | Generalized tonic seizure |
| HP:0002599 | Head titubation |
| HP:0002090 | Pneumonia |
| HP:0030423 | Splenic cyst |
| HP:0030187 | Titubation |
| HP:0002375 | Hypokinesia |
| HP:0007166 | Paroxysmal dyskinesia |
| HP:0003077 | Hyperlipidemia |
| HP:0000017 | Nocturia |
| HP:0100555 | Asymmetric growth |
| HP:0011847 | Giant cell tumor of bone |
| HP:0000112 | Nephropathy |
| HP:0000246 | Sinusitis |
| HP:0001012 | Multiple lipomas |
| HP:0000851 | Congenital hypothyroidism |
| HP:0002345 | Action tremor |
| HP:0002677 | Small foramen magnum |
| HP:0011947 | Respiratory tract infection |
| HP:0012151 | Hemothorax |
| HP:0005988 | Congenital muscular torticollis |
| HP:0002329 | Drowsiness |
| HP:0012395 | Seasonal allergy |
| HP:0011679 | Tetralogy of Fallot with pulmonary stenosis |
| HP:0001864 | Clinodactyly of the 5th toe |
| HP:0006934 | Congenital nystagmus |
| HP:0100355 | Contractures of the distal interphalangeal joint of the 5th toe |
| HP:0007894 | Hypopigmentation of the fundus |
| HP:0012377 | Hemianopia |
| HP:0002354 | Memory impairment |
| HP:0000872 | Hashimoto thyroiditis |
| HP:0002519 | Hypnagogic hallucinations |
| HP:0010647 | Abnormal elasticity of skin |
| HP:0002592 | Gastric ulcer |
| HP:0004938 | Tortuous cerebral arteries |
| HP:0004948 | Vascular tortuosity |
| HP:0002516 | Increased intracranial pressure |
| HP:0006460 | Increased laxity of ankles |
| HP:0002317 | Unsteady gait |
| HP:0000182 | Movement abnormality of the tongue |
| HP:0009887 | Abnormality of hair pigmentation |
| HP:0005824 | Clinodactyly of the 2nd toe |
| HP:0002212 | Curly hair |
| HP:0009803 | Short phalanx of finger |
| HP:0000572 | Visual loss |
| HP:0005216 | Impaired mastication |
| HP:0000619 | Impaired convergence |
| HP:0002403 | Positive Romberg sign |
| HP:0008744 | Abnormal aryepiglottic fold morphology |
| HP:0002374 | Diminished movement |
| HP:0008277 | Abnormal blood zinc concentration |
| HP:0012781 | Mid-frequency hearing loss |
| HP:0100758 | Gangrene |
| HP:0003256 | Abnormality of the coagulation cascade |
| HP:0004387 | Enterocolitis |
| HP:0011029 | Internal hemorrhage |
| HP:0011649 | Patent ductus arteriosus after premature birth |
| HP:0012050 | Anasarca |
| HP:0001683 | Ectopia cordis |
| HP:0011682 | Perimembranous ventricular septal defect |
| HP:0010624 | Aplastic/hypoplastic toenail |
| HP:0002705 | High, narrow palate |
| HP:0011340 | Incomplete cleft of the upper lip |
| HP:0011613 | Interrupted aortic arch type B |
| HP:0006167 | Prominent proximal interphalangeal joints |
| HP:0002918 | Hypermagnesemia |
| HP:0011937 | Hypoplastic fifth toenail |
| HP:0001067 | Neurofibromas |
| HP:0011403 | Abnormal umbilical cord blood vessels |
| HP:0003316 | Butterfly vertebrae |
| HP:0002247 | Duodenal atresia |
| HP:0008439 | Lumbar hemivertebrae |
| HP:0011599 | Mesocardia |
| HP:0008467 | Thoracic hemivertebrae |
| HP:0004626 | Lumbar scoliosis |
| HP:0006808 | Cerebral hypomyelination |
| HP:0002926 | Abnormality of thyroid physiology |
| HP:0007970 | 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 |