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

ValueSet: Phenotype Codes

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

Logical Definition (CLD)

 

Expansion

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

CodeDisplay
  HP:0000365Hearing impairment
  HP:0002564obsolete Malformation of the heart and great vessels
  HP:0001028Hemangioma
  HP:0000476Cystic hygroma
  HP:0000568Microphthalmia
  HP:0000518Cataract
  HP:0000612Iris coloboma
  HP:0000567Chorioretinal coloboma
  HP:0000316Hypertelorism
  HP:0000482Microcornea
  HP:0000588Optic nerve coloboma
  HP:0004426Abnormality of the cheek
  HP:0009125Lipodystrophy
  HP:0002023Anal atresia
  HP:0003468Abnormal vertebral morphology
  HP:0000545Myopia
  HP:0000122Unilateral renal agenesis
  HP:0002143Abnormality of the spinal cord
  HP:0003508Proportionate short stature
  HP:0000271Abnormality of the face
  HP:0000637Long palpebral fissure
  HP:0000492Abnormal eyelid morphology
  HP:0000389Chronic otitis media
  HP:0000400Macrotia
  HP:0000405Conductive hearing impairment
  HP:0012712Mild hearing impairment
  HP:0005280Depressed nasal bridge
  HP:0000431Wide nasal bridge
  HP:0000319Smooth philtrum
  HP:0000175Cleft palate
  HP:0001611Nasal speech
  HP:0002099Asthma
  HP:0001397Hepatic steatosis
  HP:0001081Cholelithiasis
  HP:0002650Scoliosis
  HP:0001212Prominent fingertip pads
  HP:0001328Specific learning disability
  HP:0000824Growth hormone deficiency
  HP:0002607Bowel incontinence
  HP:0100731Transverse facial cleft
  HP:0000528Anophthalmia
  HP:0000601Hypotelorism
  HP:0000369Low-set ears
  HP:0001274Agenesis of corpus callosum
  HP:0002084Encephalocele
  HP:0007033Cerebellar dysplasia
  HP:0100336Bilateral cleft lip
  HP:0100337Bilateral cleft palate
  HP:0001511Intrauterine growth retardation
  HP:0011451Congenital microcephaly
  HP:0000324Facial asymmetry
  HP:0000581Blepharophimosis
  HP:0000508Ptosis
  HP:0008551Microtia
  HP:0001631Atrial septal defect
  HP:0000085Horseshoe kidney
  HP:0011927Short digit
  HP:0001156Brachydactyly
  HP:0002066Gait ataxia
  HP:0001250Seizure
  HP:0001263Global developmental delay
  HP:0001562Oligohydramnios
  HP:0001195Single umbilical artery
  HP:0006349Agenesis of permanent teeth
  HP:0000668Hypodontia
  HP:0000677Oligodontia
  HP:0001252Muscular hypotonia
  HP:0003429CNS hypomyelination
  HP:0010864Intellectual disability, severe
  HP:0004325Decreased body weight
  HP:0000666Horizontal nystagmus
  HP:0000218High palate
  HP:0010809Broad uvula
  HP:0000767Pectus excavatum
  HP:0003691Scapular winging
  HP:0002616Aortic root aneurysm
  HP:0001601Laryngomalacia
  HP:0002021Pyloric stenosis
  HP:0001388Joint laxity
  HP:0001187Hyperextensibility of the finger joints
  HP:0000741Apathy
  HP:0000817Poor eye contact
  HP:0000821Hypothyroidism
  HP:0000002Abnormality of body height
  HP:0000079Abnormality of the urinary system
  HP:0000164Abnormality of the dentition
  HP:0000364Hearing abnormality
  HP:0000366Abnormality of the nose
  HP:0000464Abnormality of the neck
  HP:0000707Abnormality of the nervous system
  HP:0000708Behavioral abnormality
  HP:0000769Abnormality of the breast
  HP:0000772Abnormality of the ribs
  HP:0000775Abnormality of the diaphragm
  HP:0000889Abnormality of the clavicle
  HP:0000925Abnormality of the vertebral column
  HP:0001080Biliary tract abnormality
  HP:0001392Abnormality of the liver
  HP:0001438Abnormal abdomen morphology
  HP:0001608Abnormality of the voice
  HP:0001627Abnormal heart morphology
  HP:0001732Abnormality of the pancreas
  HP:0001739Abnormality of the nasopharynx
  HP:0001743Abnormality of the spleen
  HP:0001760Abnormal foot morphology
  HP:0001871Abnormality of blood and blood-forming tissues
  HP:0002031Abnormal esophagus morphology
  HP:0002244Abnormality of the small intestine
  HP:0002246Abnormality of the duodenum
  HP:0002250Abnormal large intestine morphology
  HP:0002644Abnormality of pelvic girdle bone morphology
  HP:0002664Neoplasm
  HP:0002715Abnormality of the immune system
  HP:0002814Abnormality of the lower limb
  HP:0002817Abnormality of the upper limb
  HP:0005483Abnormal epiglottis morphology
  HP:0008777Abnormal vocal cord morphology
  HP:0011844Abnormal appendicular skeleton morphology
  HP:0012732Anorectal anomaly
  HP:0001508Failure to thrive
  HP:0002902Hyponatremia
  HP:0012236Elevated sweat chloride
  HP:0000347Micrognathia
  HP:0000926Platyspondyly
  HP:0001371Flexion contracture
  HP:0001875Neutropenia
  HP:0001888Lymphopenia
  HP:0002857Genu valgum
  HP:0002986Radial bowing
  HP:0003015Flared metaphysis
  HP:0003025Metaphyseal irregularity
  HP:0003097Short femur
  HP:0003300Ovoid vertebral bodies
  HP:0003307Hyperlordosis
  HP:0004209Clinodactyly of the 5th finger
  HP:0004322Short stature
  HP:0005792Short humerus
  HP:0006248Limited wrist movement
  HP:0000944Abnormality of the metaphysis
  HP:0011921Exudative pleural effusion
  HP:0003043Abnormality of the shoulder
  HP:0000290Abnormality of the forehead
  HP:0005288Abnormality of the nares
  HP:0000234Abnormality of the head
  HP:0004323Abnormality of body weight
  HP:0000483Astigmatism
  HP:0011003High myopia
  HP:0000470Short neck
  HP:0030044Flexion contracture of digit
  HP:0100871Abnormality of the palm
  HP:0004334Dermal atrophy
  HP:0001845Overlapping toe
  HP:0000496Abnormality of eye movement
  HP:0001780Abnormality of toe
  HP:0001626Abnormality of the cardiovascular system
  HP:0002086Abnormality of the respiratory system
  HP:0000818Abnormality of the endocrine system
  HP:0012372Abnormal eye morphology
  HP:0009473Joint contracture of the hand
  HP:0003199Decreased muscle mass
  HP:0003202Skeletal muscle atrophy
  HP:0003551Difficulty climbing stairs
  HP:0002355Difficulty walking
  HP:0003546Exercise intolerance
  HP:0003325Limb-girdle muscle weakness
  HP:0003701Proximal muscle weakness
  HP:0003547Shoulder girdle muscle weakness
  HP:0007340Lower limb muscle weakness
  HP:0002168Scanning speech
  HP:0001265Hyporeflexia
  HP:0001284Areflexia
  HP:0003477Peripheral axonal neuropathy
  HP:0000924Abnormality of the skeletal system
  HP:0001291Abnormal cranial nerve morphology
  HP:0003687Centrally nucleated skeletal muscle fibers
  HP:0001324Muscle weakness
  HP:0002515Waddling gait
  HP:0100280Crohn's disease
  HP:0002631obsolete Dilatation of ascending aorta
  HP:0100026Arteriovenous malformation
  HP:0002637Cerebral ischemia
  HP:0002619Varicose veins
  HP:0001159Syndactyly
  HP:0002069Bilateral tonic-clonic seizure
  HP:0000977Soft skin
  HP:0010648Dermal translucency
  HP:0000978Bruising susceptibility
  HP:0001956Truncal obesity
  HP:0000189Narrow palate
  HP:0000678Dental crowding
  HP:0002870Obstructive sleep apnea
  HP:0001763Pes planus
  HP:0000782Abnormality of the scapula
  HP:0001600Abnormality of the larynx
  HP:0002088Abnormal lung morphology
  HP:0011407Proportionate tall stature
  HP:0000541Retinal detachment
  HP:0001373Joint dislocation
  HP:0000938Osteopenia
  HP:0002942Thoracic kyphosis
  HP:0001840Metatarsus adductus
  HP:0001844Abnormality of the hallux
  HP:0001765Hammertoe
  HP:0000606Abnormality of the periorbital region
  HP:0002757Recurrent fractures
  HP:0000647Sclerocornea
  HP:0001166Arachnodactyly
  HP:0005490Postnatal macrocephaly
  HP:0011363Abnormality of hair growth rate
  HP:0000276Long face
  HP:0000275Narrow face
  HP:0000337Broad forehead
  HP:0002267Exaggerated startle response
  HP:0002187Intellectual disability, profound
  HP:0000728Impaired ability to form peer relationships
  HP:0000733Stereotypy
  HP:0000739Anxiety
  HP:0000929Abnormal skull morphology
  HP:0001965Abnormal scalp morphology
  HP:0100538Abnormality of the supraorbital ridges
  HP:0000309Abnormality of the midface
  HP:0000277Abnormality of the mandible
  HP:0000765Abnormality of the thorax
  HP:0100008Schwannoma
  HP:0030038Enchondroma
  HP:0100777Exostoses
  HP:0011663Right ventricular cardiomyopathy
  HP:0011675Arrhythmia
  HP:0001962Palpitations
  HP:0001279Syncope
  HP:0004756Ventricular tachycardia
  HP:0000252Microcephaly
  HP:0000303Mandibular prognathia
  HP:0000664Synophrys
  HP:0001609Hoarse voice
  HP:0002558Supernumerary nipple
  HP:0001634Mitral valve prolapse
  HP:0000028Cryptorchidism
  HP:0000973Cutis laxa
  HP:0001518Small for gestational age
  HP:0000527Long eyelashes
  HP:0002808Kyphosis
  HP:0000248Brachycephaly
  HP:0000505Visual impairment
  HP:0000512Abnormal electroretinogram
  HP:0000517Abnormality of the lens
  HP:0000529Progressive visual loss
  HP:0000586Shallow orbits
  HP:0000603Central scotoma
  HP:0000939Osteoporosis
  HP:0001377Limited elbow extension
  HP:0001387Joint stiffness
  HP:0001822Hallux valgus
  HP:0002657Spondylometaphyseal dysplasia
  HP:0003026Short long bone
  HP:0006462Generalized bone demineralization
  HP:0008873Disproportionate short-limb short stature
  HP:0008905Rhizomelia
  HP:0008922Childhood-onset short-trunk short stature
  HP:0200020Corneal erosion
  HP:0001172Abnormal thumb morphology
  HP:0002286Fair hair
  HP:0010719Abnormality of hair texture
  HP:0010720Abnormal hair pattern
  HP:0001635Congestive heart failure
  HP:0001644Dilated cardiomyopathy
  HP:0001663Ventricular fibrillation
  HP:0011712Right bundle branch block
  HP:0000272Malar flattening
  HP:0000286Epicanthus
  HP:0000322Short philtrum
  HP:0000463Anteverted nares
  HP:0000494Downslanted palpebral fissures
  HP:0000543Optic disc pallor
  HP:0000699Diastema
  HP:0000773Short ribs
  HP:0000887Cupped ribs
  HP:0000946Hypoplastic ilia
  HP:0000954Single transverse palmar crease
  HP:0001182Tapered finger
  HP:0001537Umbilical hernia
  HP:0002007Frontal bossing
  HP:0002980Femoral bowing
  HP:0002982Tibial bowing
  HP:0003021Metaphyseal cupping
  HP:0005011Mesomelic arm shortening
  HP:0008803obsolete Narrow sacroiliac notch
  HP:0009117Aplasia/Hypoplasia of the maxilla
  HP:0011220Prominent forehead
  HP:0012801Narrow jaw
  HP:0000243Trigonocephaly
  HP:0000358Posteriorly rotated ears
  HP:0000411Protruding ear
  HP:0000646Amblyopia
  HP:0002812Coxa vara
  HP:0002970Genu varum
  HP:0012775Stellate iris
  HP:0000278Retrognathia
  HP:0009796Branchial cyst
  HP:0002474Expressive language delay
  HP:0007018Attention deficit hyperactivity disorder
  HP:0003198Myopathy
  HP:0003324Generalized muscle weakness
  HP:0003552Muscle stiffness
  HP:0003554Type 2 muscle fiber atrophy
  HP:0003557Increased variability in muscle fiber diameter
  HP:0009025Increased connective tissue
  HP:0003635Loss of subcutaneous adipose tissue in limbs
  HP:0002597Abnormality of the vasculature
  HP:0001649Tachycardia
  HP:0001638Cardiomyopathy
  HP:0001654Abnormal heart valve morphology
  HP:0001671Abnormal cardiac septum morphology
  HP:0000103Polyuria
  HP:0000114Proximal tubulopathy
  HP:0001878Hemolytic anemia
  HP:0001931Hypochromic anemia
  HP:0001935Microcytic anemia
  HP:0001959Polydipsia
  HP:0001994Renal Fanconi syndrome
  HP:0002134Abnormality of the basal ganglia
  HP:0002188Delayed CNS myelination
  HP:0002908Conjugated hyperbilirubinemia
  HP:0003774Stage 5 chronic kidney disease
  HP:0010700obsolete Total cataract
  HP:0000193Bifid uvula
  HP:0000219Thin upper lip vermilion
  HP:0000426Prominent nasal bridge
  HP:0000452Choanal stenosis
  HP:0000490Deeply set eye
  HP:0000540Hypermetropia
  HP:0000579Nasolacrimal duct obstruction
  HP:0000684Delayed eruption of teeth
  HP:0000960Sacral dimple
  HP:0000998Hypertrichosis
  HP:0001643Patent ductus arteriosus
  HP:0010813Abnormal number of hair whorls
  HP:0012384Rhinitis
  HP:0012745Short palpebral fissure
  HP:0000359Abnormality of the inner ear
  HP:0000429Abnormality of the nasal alae
  HP:0000436Abnormality of the nasal tip
  HP:0000499Abnormal eyelash morphology
  HP:0000534Abnormal eyebrow morphology
  HP:0000951Abnormality of the skin
  HP:0001000Abnormality of skin pigmentation
  HP:0001597Abnormality of the nail
  HP:0006483Abnormal number of teeth
  HP:0009929Abnormality of the columella
  HP:0011119Abnormality of the nasal dorsum
  HP:0012808Abnormal nasal base
  HP:0100490Camptodactyly of finger
  HP:0000964Eczema
  HP:0004442Sagittal craniosynostosis
  HP:0000414Bulbous nose
  HP:0003180Flat acetabular roof
  HP:0000422Abnormality of the nasal bridge
  HP:0000614Abnormal nasolacrimal system morphology
  HP:0001167Abnormality of finger
  HP:0001595Abnormal hair morphology
  HP:0012373Abnormal eye physiology
  HP:0001655Patent foramen ovale
  HP:0001647Bicuspid aortic valve
  HP:0000574Thick eyebrow
  HP:0001169Broad palm
  HP:0006471Fixed elbow flexion
  HP:0008689Bilateral cryptorchidism
  HP:0011304Broad thumb
  HP:0005110Atrial fibrillation
  HP:0001633Abnormal mitral valve morphology
  HP:0001641Abnormal pulmonary valve morphology
  HP:0001702Abnormal tricuspid valve morphology
  HP:0000012Urinary urgency
  HP:0000020Urinary incontinence
  HP:0000131Uterine leiomyoma
  HP:0000132Menorrhagia
  HP:0000138Ovarian cyst
  HP:0000853Goiter
  HP:0000953Hyperpigmentation of the skin
  HP:0001061Acne
  HP:0002315Headache
  HP:0004324Increased body weight
  HP:0000069Abnormality of the ureter
  HP:0000077Abnormality of the kidney
  HP:0000759Abnormal peripheral nervous system morphology
  HP:0008069Neoplasm of the skin
  HP:0011276Vascular skin abnormality
  HP:0000705Amelogenesis imperfecta
  HP:0001256Intellectual disability, mild
  HP:0000325Triangular face
  HP:0000160Narrow mouth
  HP:0009487Ulnar deviation of the hand
  HP:0001249Intellectual disability
  HP:0008064Ichthyosis
  HP:0000311Round face
  HP:0001653Mitral regurgitation
  HP:0001771Achilles tendon contracture
  HP:0012032Lipoma
  HP:0012368Flat face
  HP:0030053Stiff skin
  HP:0011124Abnormality of epidermal morphology
  HP:0011097Epileptic spasm
  HP:0000407Sensorineural hearing impairment
  HP:0000331Short chin
  HP:0000340Sloping forehead
  HP:0000486Strabismus
  HP:0000713Agitation
  HP:0000802Impotence
  HP:0001272Cerebellar atrophy
  HP:0001276Hypertonia
  HP:0001321Cerebellar hypoplasia
  HP:0001322obsolete Brain very small
  HP:0002061Lower limb spasticity
  HP:0002529Neuronal loss in central nervous system
  HP:0002540Inability to walk
  HP:0005484Postnatal microcephaly
  HP:0012850Small intestinal dysmotility
  HP:0000504Abnormality of vision
  HP:0002118Abnormality of the cerebral ventricles
  HP:0002363Abnormality of brainstem morphology
  HP:0010651Abnormal meningeal morphology
  HP:0100024Conspicuously happy disposition
  HP:0002538Abnormality of the cerebral cortex
  HP:0000054Micropenis
  HP:0000215Thick upper lip vermilion
  HP:0000293Full cheeks
  HP:0000349Widow's peak
  HP:0000444Convex nasal ridge
  HP:0000506Telecanthus
  HP:0000592Blue sclerae
  HP:0000691Microdontia
  HP:0000698Conical tooth
  HP:0002000Short columella
  HP:0002097Emphysema
  HP:0002209Sparse scalp hair
  HP:0002816Genu recurvatum
  HP:0005116Arterial tortuosity
  HP:0007957Corneal opacity
  HP:0008070Sparse hair
  HP:0009623Proximal placement of thumb
  HP:0010055Broad hallux
  HP:0011318Bicoronal synostosis
  HP:0011968Feeding difficulties
  HP:0200067Recurrent spontaneous abortion
  HP:0011819Submucous cleft soft palate
  HP:0000268Dolichocephaly
  HP:0003302Spondylolisthesis
  HP:0000582Upslanted palpebral fissure
  HP:0000952Jaundice
  HP:0001298Encephalopathy
  HP:0001396Cholestasis
  HP:0002059Cerebral atrophy
  HP:0002171Gliosis
  HP:0002240Hepatomegaly
  HP:0002353EEG abnormality
  HP:0002446Astrocytosis
  HP:0003287Abnormality of mitochondrial metabolism
  HP:0011449Knee clonus
  HP:0012852Hepatic bridging fibrosis
  HP:0100626Chronic hepatic failure
  HP:0000385Small earlobe
  HP:0009748Large earlobe
  HP:0000157Abnormality of the tongue
  HP:0000172Abnormality of the uvula
  HP:0000174Abnormal palate morphology
  HP:0000306Abnormality of the chin
  HP:0004408Abnormality of the sense of smell
  HP:0009912Abnormality of the tragus
  HP:0000537Epicanthus inversus
  HP:0000565Esotropia
  HP:0000752Hyperactivity
  HP:0003186Inverted nipples
  HP:0012503Abnormality of the pituitary gland
  HP:0100710Impulsivity
  HP:0000357Abnormal location of ears
  HP:0000820Abnormality of the thyroid gland
  HP:0000828Abnormality of the parathyroid gland
  HP:0000834Abnormality of the adrenal glands
  HP:0012093Abnormality of endocrine pancreas physiology
  HP:0000269Prominent occiput
  HP:0000535Sparse and thin eyebrow
  HP:0000639Nystagmus
  HP:0000718Aggressive behavior
  HP:0000957Cafe-au-lait spot
  HP:0000256Macrocephaly
  HP:0000750Delayed speech and language development
  HP:0000963Thin skin
  HP:0001260Dysarthria
  HP:0002194Delayed gross motor development
  HP:0003196Short nose
  HP:0001155Abnormality of the hand
  HP:0100022Abnormality of movement
  HP:0010862Delayed fine motor development
  HP:0000343Long philtrum
  HP:0000717Autism
  HP:0001883Talipes
  HP:0002553Highly arched eyebrow
  HP:0007488Diffuse skin atrophy
  HP:0000822Hypertension
  HP:0001278Orthostatic hypotension
  HP:0001944Dehydration
  HP:0001945Fever
  HP:0002019Constipation
  HP:0002020Gastroesophageal reflux
  HP:0002027Abdominal pain
  HP:0002718Recurrent bacterial infections
  HP:0002841Recurrent fungal infections
  HP:0004395Malnutrition
  HP:0009830Peripheral neuropathy
  HP:0000126Hydronephrosis
  HP:0000519Developmental cataract
  HP:0000648Optic atrophy
  HP:0001053Hypopigmented skin patches
  HP:0001087Developmental glaucoma
  HP:0002119Ventriculomegaly
  HP:0002280Enlarged cisterna magna
  HP:0003298Spina bifida occulta
  HP:0004467Preauricular pit
  HP:0008511Central posterior corneal opacity
  HP:0010780Hyperacusis
  HP:0030048Colpocephaly
  HP:0100335Non-midline cleft lip
  HP:0000525Abnormality iris morphology
  HP:0002719Recurrent infections
  HP:0000153Abnormality of the mouth
  HP:0001903Anemia
  HP:0002094Dyspnea
  HP:0002206Pulmonary fibrosis
  HP:0002789Tachypnea
  HP:0002793Abnormal pattern of respiration
  HP:0003565Elevated erythrocyte sedimentation rate
  HP:0006517Intraalveolar phospholipid accumulation
  HP:0006530Interstitial pulmonary abnormality
  HP:0100759Clubbing of fingers
  HP:0002103Abnormal pleura morphology
  HP:0001596Alopecia
  HP:0001882Leukopenia
  HP:0002013Vomiting
  HP:0002028Chronic diarrhea
  HP:0002573Hematochezia
  HP:0002960Autoimmunity
  HP:0005387Combined immunodeficiency
  HP:0011109Chronic sinusitis
  HP:0004429Recurrent viral infections
  HP:0000280Coarse facial features
  HP:0000294Low anterior hairline
  HP:0000577Exotropia
  HP:0001873Thrombocytopenia
  HP:0002011Morphological central nervous system abnormality
  HP:0006610Wide intermamillary distance
  HP:0011231Prominent eyelashes
  HP:0012718Morphological abnormality of the gastrointestinal tract
  HP:0002024Malabsorption
  HP:0001394Cirrhosis
  HP:0001414Microvesicular hepatic steatosis
  HP:0001403Macrovesicular hepatic steatosis
  HP:0001410Decreased liver function
  HP:0001409Portal hypertension
  HP:0001744Splenomegaly
  HP:0003394Muscle spasm
  HP:0003750Increased muscle fatiguability
  HP:0002123Generalized myoclonic seizure
  HP:0002219Facial hypertrichosis
  HP:0000831Insulin-resistant diabetes mellitus
  HP:0001891Iron deficiency anemia
  HP:0001264Spastic diplegia
  HP:0002313Spastic paraparesis
  HP:0001347Hyperreflexia
  HP:0002460Distal muscle weakness
  HP:0000763Sensory neuropathy
  HP:0001268Mental deterioration
  HP:0002169Clonus
  HP:0001332Dystonia
  HP:0100716Self-injurious behavior
  HP:0000602Ophthalmoplegia
  HP:0001251Ataxia
  HP:0000776Congenital diaphragmatic hernia
  HP:0000410Mixed hearing impairment
  HP:0000510Rod-cone dystrophy
  HP:0004437Cranial hyperostosis
  HP:0011001Increased bone mineral density
  HP:0000956Acanthosis nigricans
  HP:0000958Dry skin
  HP:0000580Pigmentary retinopathy
  HP:0000649Abnormality of visual evoked potentials
  HP:0000657Oculomotor apraxia
  HP:0000479Abnormal retinal morphology
  HP:0001317Abnormal cerebellum morphology
  HP:0001533Slender build
  HP:0001629Ventricular septal defect
  HP:0000703Dentinogenesis imperfecta
  HP:0000914Shield chest
  HP:0001500Broad finger
  HP:0003086Acromesomelia
  HP:0003416Spinal canal stenosis
  HP:0002815Abnormality of the knee
  HP:0002992Abnormality of tibia morphology
  HP:0001639Hypertrophic cardiomyopathy
  HP:0003236Elevated serum creatine kinase
  HP:0001369Arthritis
  HP:0003560Muscular dystrophy
  HP:0003974Absent radius
  HP:0002818Abnormality of the radius
  HP:0001561Polyhydramnios
  HP:0002299Brittle hair
  HP:0002208Coarse hair
  HP:0002213Fine hair
  HP:0000522Alacrima
  HP:0100704Cerebral visual impairment
  HP:0012713Moderate hearing impairment
  HP:0002307Drooling
  HP:0002714Downturned corners of mouth
  HP:0000191Accessory oral frenulum
  HP:0000158Macroglossia
  HP:0012020Right aortic arch
  HP:0002104Apnea
  HP:0000598Abnormality of the ear
  HP:0007874Almond-shaped palpebral fissure
  HP:0010804Tented upper lip vermilion
  HP:0000885Broad ribs
  HP:0000768Pectus carinatum
  HP:0001680Coarctation of aorta
  HP:0000687Widely spaced teeth
  HP:0000047Hypospadias
  HP:0001943Hypoglycemia
  HP:0012369Abnormality of malar bones
  HP:0009900Unilateral deafness
  HP:0000023Inguinal hernia
  HP:0000074Ureteropelvic junction obstruction
  HP:0001800Hypoplastic toenails
  HP:0001804Hypoplastic fingernail
  HP:0002949Fused cervical vertebrae
  HP:0008050Abnormality of the palpebral fissures
  HP:0008577Underfolded helix
  HP:0008589Hypoplastic helices
  HP:0010863Receptive language delay
  HP:0002282Gray matter heterotopia
  HP:0002085Occipital encephalocele
  HP:0001057Aplasia cutis congenita
  HP:0000211Trismus
  HP:0008422Vertebral wedging
  HP:0003170Abnormality of the acetabulum
  HP:0003272Abnormality of the hip bone
  HP:0003028Abnormality of the ankles
  HP:0003301Irregular vertebral endplates
  HP:0010508Metatarsus valgus
  HP:0009811Abnormality of the elbow
  HP:0000736Short attention span
  HP:0002912Methylmalonic acidemia
  HP:0001941Acidosis
  HP:0001992Organic aciduria
  HP:0009027Foot dorsiflexor weakness
  HP:0002063Rigidity
  HP:0000384Preauricular skin tag
  HP:0200046Cat cry
  HP:0001357Plagiocephaly
  HP:0000670Carious teeth
  HP:0011090Fused teeth
  HP:0012810Wide nasal base
  HP:0010296Ankyloglossia
  HP:0001636Tetralogy of Fallot
  HP:0001305Dandy-Walker malformation
  HP:0000238Hydrocephalus
  HP:0005469Flat occiput
  HP:0000270Delayed cranial suture closure
  HP:0000239Large fontanelles
  HP:0010537Wide cranial sutures
  HP:0002217Slow-growing hair
  HP:0000587Abnormality of the optic nerve
  HP:0005989Redundant neck skin
  HP:0010775Vascular ring
  HP:0002779Tracheomalacia
  HP:0002827Hip dislocation
  HP:0001302Pachygyria
  HP:0007362Aplasia/Hypoplasia of the brainstem
  HP:0001558Decreased fetal movement
  HP:0010878Fetal cystic hygroma
  HP:0011398Central hypotonia
  HP:0002071Abnormality of extrapyramidal motor function
  HP:0000826Precocious puberty
  HP:0000014Abnormality of the bladder
  HP:0005037Proximal radio-ulnar synostosis
  HP:0100543Cognitive impairment
  HP:0000481Abnormal cornea morphology
  HP:0000076Vesicoureteral reflux
  HP:0000297Facial hypotonia
  HP:0000391Thickened helices
  HP:0001162Postaxial hand polydactyly
  HP:0001385Hip dysplasia
  HP:0002342Intellectual disability, moderate
  HP:0003191Cleft ala nasi
  HP:0009765Low hanging columella
  HP:0010297Bifid tongue
  HP:0011330Metopic synostosis
  HP:0012804Corneal ulceration
  HP:0010485Hyperextensibility at elbow
  HP:0000609Optic nerve hypoplasia
  HP:0001176Large hands
  HP:0004233Advanced ossification of carpal bones
  HP:0100842Septo-optic dysplasia
  HP:0002034Abnormality of the rectum
  HP:0002283Global brain atrophy
  HP:0003115Abnormal EKG
  HP:0002577Abnormal stomach morphology
  HP:0002539Cortical dysplasia
  HP:00068184-layered lissencephaly
  HP:0000593Abnormal anterior chamber morphology
  HP:0000179Thick lower lip vermilion
  HP:0002002Deep philtrum
  HP:0009931Enlarged naris
  HP:0002948Vertebral fusion
  HP:0002937Hemivertebrae
  HP:0002308Arnold-Chiari malformation
  HP:0011320Unilambdoid synostosis
  HP:0002781Upper airway obstruction
  HP:0001363Craniosynostosis
  HP:0000204Cleft upper lip
  HP:0001738Exocrine pancreatic insufficiency
  HP:0002823Abnormality of femur morphology
  HP:0000823Delayed puberty
  HP:0100279Ulcerative colitis
  HP:0003834Shoulder dislocation
  HP:0001065Striae distensae
  HP:0000448Prominent nose
  HP:0000554Uveitis
  HP:0001006obsolete Hypotrichosis
  HP:0000501Glaucoma
  HP:0000262Turricephaly
  HP:0000729Autistic behavior
  HP:0010800Absent cupid's bow
  HP:0010808Protruding tongue
  HP:0009927Aplasia of the nose
  HP:0100539Periorbital edema
  HP:0000629Periorbital fullness
  HP:0000178Abnormality of lower lip
  HP:0000168Abnormality of the gingiva
  HP:0001022Albinism
  HP:0000177Abnormality of upper lip
  HP:0001337Tremor
  HP:0002135Basal ganglia calcification
  HP:0002352Leukoencephalopathy
  HP:0002514Cerebral calcification
  HP:0010576Intracranial cystic lesion
  HP:0001622Premature birth
  HP:0002415Leukodystrophy
  HP:0001320Cerebellar vermis hypoplasia
  HP:0001773Short foot
  HP:0002750Delayed skeletal maturation
  HP:0004415Pulmonary artery stenosis
  HP:0012741Unilateral cryptorchidism
  HP:0000036Abnormality of the penis
  HP:0002408Cerebral arteriovenous malformation
  HP:0007457Prominent veins on trunk
  HP:0000378Cupped ear
  HP:0000396Overfolded helix
  HP:0000035Abnormal testis morphology
  HP:0009895Abnormality of the crus of the helix
  HP:0000034Hydrocele testis
  HP:0000722Obsessive-compulsive behavior
  HP:0000845Growth hormone excess
  HP:0100829Galactorrhea
  HP:0001578Increased circulating cortisol level
  HP:0000786Primary amenorrhea
  HP:0001701Pericarditis
  HP:0002076Migraine
  HP:0004755Supraventricular tachycardia
  HP:0010522Dyslexia
  HP:0004313Decreased circulating antibody level
  HP:0000011Neurogenic bladder
  HP:0000641Dysmetric saccades
  HP:0007772Impaired smooth pursuit
  HP:0001583Rotary nystagmus
  HP:0010544Vertical nystagmus
  HP:0012735Cough
  HP:0002075Dysdiadochokinesis
  HP:0007256Abnormal pyramidal sign
  HP:0001257Spasticity
  HP:0002321Vertigo
  HP:0002384Focal impaired awareness seizure
  HP:0011376Morphological abnormality of the vestibule of the inner ear
  HP:0002326Transient ischemic attack
  HP:0005584Renal cell carcinoma
  HP:0003124Hypercholesterolemia
  HP:0003002Breast carcinoma
  HP:0004953obsolete Dilatation of abdominal aorta
  HP:0004944Dilatation of the cerebral artery
  HP:0000100Nephrotic syndrome
  HP:0002783Recurrent lower respiratory tract infections
  HP:0003470Paralysis
  HP:0006597Diaphragmatic paralysis
  HP:0008151Prolonged prothrombin time
  HP:0010628Facial palsy
  HP:0011892Low levels of vitamin K
  HP:0001075Atrophic scars
  HP:0001816Thin nail
  HP:0002216Premature graying of hair
  HP:0003401Paresthesia
  HP:0100134Abnormality of the axillary hair
  HP:0100797Toenail dysplasia
  HP:0010461Abnormality of the male genitalia
  HP:0000044Hypogonadotropic hypogonadism
  HP:0100568Neoplasm of the endocrine system
  HP:0001646Abnormal aortic valve morphology
  HP:0000813Bicornuate uterus
  HP:0004380Aortic valve calcification
  HP:0001650Aortic valve stenosis
  HP:0000073Ureteral duplication
  HP:0100651Type I diabetes mellitus
  HP:0000819Diabetes mellitus
  HP:0000573Retinal hemorrhage
  HP:0005264Abnormality of the gallbladder
  HP:0000475Broad neck
  HP:0000089Renal hypoplasia
  HP:0000921Missing ribs
  HP:0001789Hydrops fetalis
  HP:0002089Pulmonary hypoplasia
  HP:0003422Vertebral segmentation defect
  HP:0002323Anencephaly
  HP:0000341Narrow forehead
  HP:0002869Flared iliac wings
  HP:0003100Slender long bone
  HP:0003275Narrow pelvis bone
  HP:0009891Underdeveloped supraorbital ridges
  HP:0011039Abnormality of the helix
  HP:0008572External ear malformation
  HP:0009738Abnormality of the antihelix
  HP:0011328Abnormality of fontanelles
  HP:0012155Decreased corneal sensation
  HP:0004602Cervical C2/C3 vertebral fusion
  HP:0002997Abnormality of the ulna
  HP:0009777Absent thumb
  HP:0002893Pituitary adenoma
  HP:0040278Prolactinoma
  HP:0001555Asymmetry of the thorax
  HP:0000902Rib fusion
  HP:0002164Nail dysplasia
  HP:0011314Abnormality of long bone morphology
  HP:0002867Abnormality of the ilium
  HP:0000774Narrow chest
  HP:0006482Abnormality of dental morphology
  HP:0004383Hypoplastic left heart
  HP:0002015Dysphagia
  HP:0500093Food allergy
  HP:0001519Disproportionate tall stature
  HP:0003179Protrusio acetabuli
  HP:0007385Aplasia cutis congenita of scalp
  HP:0000716Depressivity
  HP:0012583Unilateral renal hypoplasia
  HP:0000618Blindness
  HP:0001004Lymphedema
  HP:0002652Skeletal dysplasia
  HP:0012520Perivascular spaces
  HP:0005293Venous insufficiency
  HP:0012432Chronic fatigue
  HP:0002578Gastroparesis
  HP:0001658Myocardial infarction
  HP:0001802Absent toenail
  HP:0001821Broad nail
  HP:0000807Glandular hypospadias
  HP:0100582Nasal polyposis
  HP:0002653Bone pain
  HP:0001073Cigarette-paper scars
  HP:0031913Rhombencephalosynapsis
  HP:0002617Dilatation
  HP:0005107Abnormal sacrum morphology
  HP:0002025Anal stenosis
  HP:0009099Median cleft palate
  HP:0003212Increased circulating IgE level
  HP:0001319Neonatal hypotonia
  HP:0002659Increased susceptibility to fractures
  HP:0025246Trichilemmal cyst
  HP:0002107Pneumothorax
  HP:0000107Renal cyst
  HP:0001025Urticaria
  HP:0002204Pulmonary embolism
  HP:0001058Poor wound healing
  HP:0003010Prolonged bleeding time
  HP:0100502Vitamin B12 deficiency
  HP:0100510Low levels of vitamin C
  HP:0030976Abnormal factor VIII activity
  HP:0100789Torus palatinus
  HP:0000108Renal corticomedullary cysts
  HP:0000072Hydroureter
  HP:0000019Urinary hesitancy
  HP:0100771Hypoperistalsis
  HP:0000021Megacystis
  HP:0004388Microcolon
  HP:0005247Hypoplasia of the abdominal wall musculature
  HP:0004794Malrotation of small bowel
  HP:0000045Abnormality of the scrotum
  HP:0002236Frontal upsweep of hair
  HP:0000212Gingival overgrowth
  HP:0001808Fragile nails
  HP:0000225Gingival bleeding
  HP:0006009Broad phalanx
  HP:0001837Broad toe
  HP:0001946Ketosis
  HP:0002490Increased CSF lactate
  HP:0002922Increased CSF protein
  HP:0003128Lactic acidosis
  HP:0003111Abnormal blood ion concentration
  HP:0032234Increased circulating creatine kinase MM isoform
  HP:0003348Hyperalaninemia
  HP:0008347Decreased activity of mitochondrial complex IV
  HP:0000326Abnormality of the maxilla
  HP:0010758Abnormality of the premaxilla
  HP:0005681Juvenile rheumatoid arthritis
  HP:0000514Slow saccadic eye movements
  HP:0002788Recurrent upper respiratory tract infections
  HP:0003396Syringomyelia
  HP:0003011Abnormality of the musculature
  HP:0002098Respiratory distress
  HP:0002018Nausea
  HP:0002014Diarrhea
  HP:0025168Left ventricular diastolic dysfunction
  HP:0001679Abnormal aortic morphology
  HP:0000159Abnormal lip morphology
  HP:0011338Abnormality of mouth shape
  HP:0000478Abnormality of the eye
  HP:0000154Wide mouth
  HP:0001513Obesity
  HP:0002475Myelomeningocele
  HP:0003765Psoriasiform dermatitis
  HP:0010289Cleft of alveolar ridge of maxilla
  HP:0003908Corner fracture of metaphysis
  HP:0002190Choroid plexus cyst
  HP:0004370Abnormality of temperature regulation
  HP:0011611Interrupted aortic arch
  HP:0000737Irritability
  HP:0001344Absent speech
  HP:0002376Developmental regression
  HP:0002140Ischemic stroke
  HP:0001287Meningitis
  HP:0002721Immunodeficiency
  HP:0000041Chordee
  HP:0012854Midshaft hypospadias
  HP:0000808Penoscrotal hypospadias
  HP:0000048Bifid scrotum
  HP:0001047Atopic dermatitis
  HP:0001621Weak voice
  HP:0002372Normal interictal EEG
  HP:0012803Anisometropia
  HP:0011386Narrow internal auditory canal
  HP:0012714Severe hearing impairment
  HP:0006485Agenesis of incisor
  HP:0000787Nephrolithiasis
  HP:0011332Hemifacial hypoplasia
  HP:0001909Leukemia
  HP:0004808Acute myeloid leukemia
  HP:0006495Aplasia/Hypoplasia of the ulna
  HP:0001180Hand oligodactyly
  HP:0002991Abnormality of fibula morphology
  HP:0001849Foot oligodactyly
  HP:0006507Aplasia/hypoplasia of the humerus
  HP:0005613Aplasia/hypoplasia of the femur
  HP:0006492Aplasia/Hypoplasia of the fibula
  HP:0000098Tall stature
  HP:0003311Hypoplasia of the odontoid process
  HP:0005752Flattened moderately deformed vertebrae
  HP:0030039Fused thoracic vertebrae
  HP:0003304Spondylolysis
  HP:0001659Aortic regurgitation
  HP:0002984Hypoplasia of the radius
  HP:0009944Partial duplication of thumb phalanx
  HP:0005819Short middle phalanx of finger
  HP:0002110Bronchiectasis
  HP:0001677Coronary artery atherosclerosis
  HP:0001737Pancreatic cysts
  HP:0005113Aortic arch aneurysm
  HP:0003022Hypoplasia of the ulna
  HP:0002205Recurrent respiratory infections
  HP:0001669Transposition of the great arteries
  HP:0001716Wolff-Parkinson-White syndrome
  HP:0002758Osteoarthritis
  HP:0002037Inflammation of the large intestine
  HP:0009892Anotia
  HP:0011331Hemifacial atrophy
  HP:0009118Aplasia/Hypoplasia of the mandible
  HP:0009940Asymmetry of the mandible
  HP:0000682Abnormality of dental enamel
  HP:0009908Anterior creases of earlobe
  HP:0001541Ascites
  HP:0006687Aortic tortuosity
  HP:0010535Sleep apnea
  HP:0100633Esophagitis
  HP:0002105Hemoptysis
  HP:0002613Biliary cirrhosis
  HP:0004469Chronic bronchitis
  HP:0002720Decreased circulating IgA level
  HP:0002904Hyperbilirubinemia
  HP:0003237Increased circulating IgG level
  HP:0003262Smooth muscle antibody positivity
  HP:0011227Elevated C-reactive protein level
  HP:0001852Sandal gap
  HP:0004381Supravalvular aortic stenosis
  HP:0100700Abnormal arachnoid mater morphology
  HP:0002624Abnormal venous morphology
  HP:0002289Alopecia universalis
  HP:0009588Vestibular Schwannoma
  HP:0001648Cor pulmonale
  HP:0002091Restrictive ventilatory defect
  HP:0002092Pulmonary arterial hypertension
  HP:0002113Pulmonary infiltrates
  HP:0003138Increased blood urea nitrogen
  HP:0003259Elevated serum creatinine
  HP:0005180Tricuspid regurgitation
  HP:0012585Renal atrophy
  HP:0005133Right ventricular dilatation
  HP:0005575Hemolytic-uremic syndrome
  HP:0001697Abnormal pericardium morphology
  HP:0012486Myelitis
  HP:0002385Paraparesis
  HP:0006706Cystic liver disease
  HP:0010880Increased nuchal translucency
  HP:0000457Depressed nasal ridge
  HP:0002263Exaggerated cupid's bow
  HP:0002500Abnormality of the cerebral white matter
  HP:0002835Aspiration
  HP:0000600Abnormality of the pharynx
  HP:0004327Abnormal vitreous humor morphology
  HP:0004378Abnormality of the anus
  HP:0012374obsolete Abnormal globe morphology
  HP:0100768Choriocarcinoma
  HP:0030991Sclerosing cholangitis
  HP:0006510Chronic pulmonary obstruction
  HP:0000710Hyperorality
  HP:0001270Motor delay
  HP:0001548Overgrowth
  HP:0002311Incoordination
  HP:0006288Advanced eruption of teeth
  HP:0006323Premature loss of primary teeth
  HP:0009890High anterior hairline
  HP:0100034Motor tics
  HP:0100035Phonic tics
  HP:0000348High forehead
  HP:0001520Large for gestational age
  HP:0001239Wrist flexion contracture
  HP:0007359Focal-onset seizure
  HP:0000430Underdeveloped nasal alae
  HP:0007400Irregular hyperpigmentation
  HP:0100495Mastocytosis
  HP:0012378Fatigue
  HP:0002046Heat intolerance
  HP:0003270Abdominal distention
  HP:0002180Neurodegeneration
  HP:0003493Antinuclear antibody positivity
  HP:0030057Autoimmune antibody positivity
  HP:0006802Abnormal anterior horn cell morphology
  HP:0000064Hypoplastic labia minora
  HP:0000338Hypomimic face
  HP:0001642Pulmonic stenosis
  HP:0011344Severe global developmental delay
  HP:0200007Abnormal size of the palpebral fissures
  HP:0004464Postauricular pit
  HP:0000130Abnormality of the uterus
  HP:0000137Abnormality of the ovary
  HP:0000142Abnormal vagina morphology
  HP:0000370Abnormality of the middle ear
  HP:0011787Central hypothyroidism
  HP:0000274Small face
  HP:0000446Narrow nasal bridge
  HP:0000622Blurred vision
  HP:0001245Small thenar eminence
  HP:0009601Aplasia/Hypoplasia of the thumb
  HP:0011343Moderate global developmental delay
  HP:0000419Abnormality of the nasal septum
  HP:0000502Abnormal conjunctiva morphology
  HP:0000591Abnormal sclera morphology
  HP:0000615Abnormal pupil morphology
  HP:0001163Abnormality of the metacarpal bones
  HP:0001832Abnormal metatarsal morphology
  HP:0001850Abnormality of the tarsal bones
  HP:0010490Abnormality of the palmar creases
  HP:0010881Abnormality of the umbilical cord
  HP:0009113Diaphragmatic weakness
  HP:0011664Left ventricular noncompaction cardiomyopathy
  HP:0100240Synostosis of joints
  HP:0001838Rocker bottom foot
  HP:0003717Minimal subcutaneous fat
  HP:0001339Lissencephaly
  HP:0001591Bell-shaped thorax
  HP:0002655Spondyloepiphyseal dysplasia
  HP:0002983Micromelia
  HP:0003016Metaphyseal widening
  HP:0009826Limb undergrowth
  HP:0004488Macrocephaly at birth
  HP:0001695Cardiac arrest
  HP:0001712Left ventricular hypertrophy
  HP:0100775Dural ectasia
  HP:0000846Adrenal insufficiency
  HP:0002925Increased thyroid-stimulating hormone level
  HP:0100646Thyroiditis
  HP:0000836Hyperthyroidism
  HP:0004414Abnormality of the pulmonary artery
  HP:0000465Webbed neck
  HP:0000723Restrictive behavior
  HP:0002253Colonic diverticula
  HP:0001310Dysmetria
  HP:0000093Proteinuria
  HP:0002907Microscopic hematuria
  HP:0003073Hypoalbuminemia
  HP:0004315Decreased circulating IgG level
  HP:0000795Abnormality of the urethra
  HP:0001015Prominent superficial veins
  HP:00046912-3 toe syndactyly
  HP:0005328Progeroid facial appearance
  HP:0005487Prominent metopic ridge
  HP:0007552Abnormal subcutaneous fat tissue distribution
  HP:0100678Premature skin wrinkling
  HP:0031137Storage in hepatocytes
  HP:0002521Hypsarrhythmia
  HP:0005390Recurrent opportunistic infections
  HP:0002716Lymphadenopathy
  HP:0005379obsolete Severe T lymphocytopenia
  HP:0004432Agammaglobulinemia
  HP:0006695Atrioventricular canal defect
  HP:0001733Pancreatitis
  HP:0002350Cerebellar cyst
  HP:0012110Hypoplasia of the pons
  HP:0001948Alkalosis
  HP:0003113Hypochloremia
  HP:0003155Elevated alkaline phosphatase
  HP:0003542Increased serum pyruvate
  HP:0000421Epistaxis
  HP:0200136Oral-pharyngeal dysphagia
  HP:0000805Enuresis
  HP:0005616Accelerated skeletal maturation
  HP:0002459obsolete Dysautonomia
  HP:0007302Bipolar affective disorder
  HP:0100602Preeclampsia
  HP:0100508Abnormality of vitamin metabolism
  HP:0001140Limbal dermoid
  HP:0000143Rectovaginal fistula
  HP:0001746Asplenia
  HP:0012715Profound hearing impairment
  HP:0001748Polysplenia
  HP:0003072Hypercalcemia
  HP:0002905Hyperphosphatemia
  HP:0002901Hypocalcemia
  HP:0001367Abnormal joint morphology
  HP:0010562Keloids
  HP:0004430Severe combined immunodeficiency
  HP:0000003Multicystic kidney dysplasia
  HP:0010980Hyperlipoproteinemia
  HP:0002155Hypertriglyceridemia
  HP:0000520Proptosis
  HP:0000180Lobulated tongue
  HP:0005486Small fontanelle
  HP:0000891Cervical ribs
  HP:0002557Hypoplastic nipples
  HP:0009112Aplasia of the left hemidiaphragm
  HP:0001719Double outlet right ventricle
  HP:0001682Subvalvular aortic stenosis
  HP:0001667Right ventricular hypertrophy
  HP:0002101Abnormal lung lobation
  HP:0002202Pleural effusion
  HP:0002566Intestinal malrotation
  HP:0004510Pancreatic islet-cell hyperplasia
  HP:0001747Accessory spleen
  HP:0002181Cerebral edema
  HP:0000967Petechiae
  HP:0009702Carpal synostosis
  HP:0000927Abnormality of skeletal maturation
  HP:0004348Abnormality of bone mineral density
  HP:0003019Abnormality of the wrist
  HP:0003063Abnormality of the humerus
  HP:0001059Pterygium
  HP:0001528Hemihypertrophy
  HP:0011228Horizontal eyebrow
  HP:0000766Abnormality of the sternum
  HP:0001254Lethargy
  HP:0002360Sleep disturbance
  HP:0001063Acrocyanosis
  HP:0001769Broad foot
  HP:0010280Stomatitis
  HP:0001288Gait disturbance
  HP:0008330Reduced von Willebrand factor activity
  HP:0001954Recurrent fever
  HP:0004311Abnormal macrophage morphology
  HP:0012539Non-Hodgkin lymphoma
  HP:0002074Increased neuronal autofluorescent lipopigment
  HP:0002973Abnormality of the forearm
  HP:0003203Impaired oxidative burst
  HP:0003027Mesomelia
  HP:0002754Osteomyelitis
  HP:0004431Complement deficiency
  HP:0001258Spastic paraplegia
  HP:0012811Wide nasal ridge
  HP:0011832Narrow nasal tip
  HP:0000288Abnormality of the philtrum
  HP:0002357Dysphasia
  HP:0000871Panhypopituitarism
  HP:0000233Thin vermilion border
  HP:0003281Increased serum ferritin
  HP:0010752Cleft mandible
  HP:0000437Depressed nasal tip
  HP:0000453Choanal atresia
  HP:0000863Central diabetes insipidus
  HP:0000058Abnormality of the labia
  HP:0007418Alopecia totalis
  HP:0100765Abnormality of the tonsils
  HP:0100747Macrodactyly of toe
  HP:0002109obsolete Abnormality of the bronchi
  HP:0011950Bronchiolitis
  HP:0002850Decreased circulating total IgM
  HP:0001395Hepatic fibrosis
  HP:0010701Abnormal immunoglobulin level
  HP:0009928Thick nasal alae
  HP:0010807Open bite
  HP:0002126Polymicrogyria
  HP:0002900Hypokalemia
  HP:0000155Oral ulcer
  HP:0000135Hypogonadism
  HP:0100783Breast aplasia
  HP:0000336Prominent supraorbital ridges
  HP:0010557Overlapping fingers
  HP:0005100Premature birth following premature rupture of fetal membranes
  HP:0002594Pancreatic hypoplasia
  HP:0010109Short hallux
  HP:0002334Abnormality of the cerebellar vermis
  HP:0003326Myalgia
  HP:0001645Sudden cardiac death
  HP:0001612Weak cry
  HP:0001618Dysphonia
  HP:0001336Myoclonus
  HP:0001283Bulbar palsy
  HP:0002080Intention tremor
  HP:0002174Postural tremor
  HP:0002064Spastic gait
  HP:0009800Maternal diabetes
  HP:0001662Bradycardia
  HP:0006595Scapulohumeral synostosis
  HP:0005815Supernumerary ribs
  HP:0000307Pointed chin
  HP:0012371Hyperplasia of midface
  HP:0002643Neonatal respiratory distress
  HP:0002093Respiratory insufficiency
  HP:0010310Chylothorax
  HP:0006376Limited elbow flexion
  HP:0006467Limited shoulder movement
  HP:0010505Limitation of movement at ankles
  HP:0010501Limitation of knee mobility
  HP:0009896Abnormality of the antitragus
  HP:0004404Abnormal nipple morphology
  HP:0011957Abnormal pectoral muscle morphology
  HP:0000777Abnormality of the thymus
  HP:0000418Narrow nasal ridge
  HP:0001572Macrodontia
  HP:0002967Cubitus valgus
  HP:0000988Skin rash
  HP:0009733Glioma
  HP:0012452Restless legs
  HP:0100031Neoplasm of the thyroid gland
  HP:0030127Endometriosis
  HP:0000123Nephritis
  HP:0001974Leukocytosis
  HP:0010976B lymphocytopenia
  HP:0000010Recurrent urinary tract infections
  HP:0100807Long fingers
  HP:0000653Sparse eyelashes
  HP:0000171Microglossia
  HP:0002575Tracheoesophageal fistula
  HP:0009933Narrow naris
  HP:0000883Thin ribs
  HP:0000121Nephrocalcinosis
  HP:0001349Facial diplegia
  HP:0012037Pectoralis amyotrophy
  HP:0100560Upper limb asymmetry
  HP:0005684Distal arthrogryposis
  HP:0010722Asymmetry of the ears
  HP:0009380Aplasia of the fingers
  HP:0001657Prolonged QT interval
  HP:0002040Esophageal varix
  HP:0000613Photophobia
  HP:0000561Absent eyelashes
  HP:0002223Absent eyebrow
  HP:0002591Polyphagia
  HP:0002373Febrile seizure (within the age range of 3 months to 6 years)
  HP:0002419Molar tooth sign on MRI
  HP:0001010Hypopigmentation of the skin
  HP:0005772Aplasia/Hypoplasia of the tibia
  HP:0002211White forelock
  HP:0007126Proximal amyotrophy
  HP:0003798Nemaline bodies
  HP:0006533Bronchodysplasia
  HP:0003391Gowers sign
  HP:0000771Gynecomastia
  HP:0100785Insomnia
  HP:0010529Echolalia
  HP:0000363Abnormality of earlobe
  HP:0002612Congenital hepatic fibrosis
  HP:0006721Acute lymphoblastic leukemia
  HP:0001958Nonketotic hypoglycemia
  HP:0003457EMG abnormality
  HP:0010636Schizencephaly
  HP:0005266Intestinal polyp
  HP:0200063Colorectal polyposis
  HP:0001762Talipes equinovarus
  HP:0000056Abnormality of the clitoris
  HP:0008655Aplasia/Hypoplasia of the fallopian tube
  HP:0002072Chorea
  HP:0008734Decreased testicular size
  HP:0002136Broad-based gait
  HP:0010958Bilateral renal agenesis
  HP:0002510Spastic tetraplegia
  HP:0003234Decreased plasma carnitine
  HP:0000720Mood swings
  HP:0012638Abnormal nervous system physiology
  HP:0002803Congenital contracture
  HP:0000152Abnormality of head or neck
  HP:0004377Hematological neoplasm
  HP:0100006Neoplasm of the central nervous system
  HP:0012759Neurodevelopmental abnormality
  HP:0011805Abnormal skeletal muscle morphology
  HP:0003634Amyoplasia
  HP:0001507Growth abnormality
  HP:0001939Abnormality of metabolism/homeostasis
  HP:0011013Abnormal circulating carbohydrate concentration
  HP:0410008Abnormality of the peripheral nervous system
  HP:0200134Epileptic encephalopathy
  HP:0001881Abnormal leukocyte morphology
  HP:0005549obsolete Congenital neutropenia
  HP:0004439Craniofacial dysostosis
  HP:0012443Abnormality of brain morphology
  HP:0000202Oral cleft
  HP:0011842Abnormality of skeletal morphology
  HP:0003808Abnormal muscle tone
  HP:0001574Abnormality of the integument
  HP:0030056Uncombable hair
  HP:0003549Abnormality of connective tissue
  HP:0030875Abnormality of pulmonary circulation
  HP:0000118Phenotypic abnormality
  HP:0012469Infantile spasms
  HP:0032894Seizure precipitated by febrile infection
  HP:0100661Trigeminal neuralgia
  HP:0012207Reduced sperm motility
  HP:0000798Oligospermia
  HP:0012864Abnormal sperm morphology
  HP:0008232Elevated circulating follicle stimulating hormone level
  HP:0040306Decreased male libido
  HP:0012208Immotile sperm
  HP:0000027Azoospermia
  HP:0000870Increased circulating prolactin concentration
  HP:0008187Absence of secondary sex characteristics
  HP:0010469Absent testis
  HP:0011969Elevated circulating luteinizing hormone level
  HP:0040171Decreased serum testosterone level
  HP:0003251Male infertility
  HP:0009804Reduced number of teeth
  HP:0000548Cone/cone-rod dystrophy
  HP:0000546Retinal degeneration
  HP:0008002Abnormality of macular pigmentation
  HP:0000608Macular degeneration
  HP:0030611Retinal pigment epithelial loss on macular OCT
  HP:0001135Chorioretinal dystrophy
  HP:0030468Abnormal multifocal electroretinogram
  HP:00030532Visual acuity test abnormality
  HP:0007401Macular atrophy
  HP:0030466Abnormal full-field electroretinogram
  HP:007737Bone spicule pigmentation of the retina
  HP:0011342Mild global developmental delay
  HP:0030610Photoreceptor outer segment loss on macular OCT
  HP:0007722Retinal pigment epithelial atrophy
  HP:0030493Abnormality of foveal pigmentation
  HP:0007843Attenuation of retinal blood vessels
  HP:0007754Macular dystrophy
  HP:0011509Macular hyperpigmentation
  HP:0008527Congenital sensorineural hearing impairment
  HP:0200070Peripheral retinal atrophy
  HP:0007793Granular macular appearance
  HP:0007987Progressive visual field defects
  HP:0100817Renovascular hypertension
  HP:0007868obsolete Age-related macular degeneration
  HP:0030527Very severe constriction of peripheral visual field
  HP:0030551Visual acuity light perception with projection
  HP:0011505Cystoid macular edema
  HP:0010442Polydactyly
  HP:0007642Congenital stationary night blindness
  HP:0009073Progressive proximal muscle weakness
  HP:0003741Congenital muscular dystrophy
  HP:0100299Muscle fiber inclusion bodies
  HP:0003540Impaired platelet aggregation
  HP:0010489Absent palmar crease
  HP:0009824Upper limb undergrowth
  HP:0002395Lower limb hyperreflexia
  HP:0001138Optic neuropathy
  HP:0007103Hypointensity of cerebral white matter on MRI
  HP:0003458EMG: myopathic abnormalities
  HP:0002987Elbow flexion contracture
  HP:0006466Ankle flexion contracture
  HP:0008458Progressive congenital scoliosis
  HP:0000473Torticollis
  HP:0011800Midface retrusion
  HP:0000597Ophthalmoparesis
  HP:0005853Congenital foot contraction deformities
  HP:0007002Motor axonal neuropathy
  HP:0003327Axial muscle weakness
  HP:0003306Spinal rigidity
  HP:0002068Neuromuscular dysphagia
  HP:0001002obsolete Decreased subcutaneous fat
  HP:0002880obsolete Respiratory difficulties
  HP:0006829Severe muscular hypotonia
  HP:0011448Ankle clonus
  HP:0003487Babinski sign
  HP:0002378Hand tremor
  HP:0002747Respiratory insufficiency due to muscle weakness
  HP:0002579Gastrointestinal dysmotility
  HP:0001041Facial erythema
  HP:0040180Hyperkeratosis pilaris
  HP:0001382Joint hypermobility
  HP:0003722Neck flexor weakness
  HP:0003323Progressive muscle weakness
  HP:0002380Fasciculations
  HP:0012785Flexion contracture of finger
  HP:0007936Restrictive external ophthalmoplegia
  HP:0030319Weakness of facial musculature
  HP:0008936Muscular hypotonia of the trunk
  HP:0030230Central core regions in muscle fibers
  HP:0011471Gastrostomy tube feeding in infancy
  HP:0001290Generalized hypotonia
  HP:0002421Poor head control
  HP:0010301Spinal dysraphism
  HP:0004303Abnormal muscle fiber morphology
  HP:0009046Difficulty running
  HP:0003715Myofibrillar myopathy
  HP:0000467Neck muscle weakness
  HP:0001999Abnormal facial shape
  HP:0002751Kyphoscoliosis
  HP:0030223Perseveration
  HP:0002344Progressive neurologic deterioration
  HP:0002522Areflexia of lower limbs
  HP:0003805Rimmed vacuoles
  HP:0005781Contractures of the large joints
  HP:0040083Toe walking
  HP:0003749Pelvic girdle muscle weakness
  HP:0012444Brain atrophy
  HP:0003738Exercise-induced myalgia
  HP:0003756Skeletal myopathy
  HP:0002492Morphological abnormality of the corticospinal tract
  HP:0100302Muscle fiber tubuloreticular inclusions
  HP:0006817Aplasia/Hypoplasia of the cerebellar vermis
  HP:0003473Fatigable weakness
  HP:0002077Migraine with aura
  HP:0100559Lower limb asymmetry
  HP:0002079Hypoplasia of the corpus callosum
  HP:0002804Arthrogryposis multiplex congenita
  HP:0011623Muscular ventricular septal defect
  HP:0002191Progressive spasticity
  HP:0003390Sensory axonal neuropathy
  HP:0006986Upper limb spasticity
  HP:0002464Spastic dysarthria
  HP:0001308Tongue fasciculations
  HP:0007010Poor fine motor coordination
  HP:0003737Mitochondrial myopathy
  HP:0008012obsolete Congenital myopia
  HP:0008872Feeding difficulties in infancy
  HP:0005750Contractures of the joints of the lower limbs
  HP:0009067Progressive spinal muscular atrophy
  HP:0001623Breech presentation
  HP:0001374Congenital hip dislocation
  HP:0002359Frequent falls
  HP:0003803Type 1 muscle fiber predominance
  HP:0011410Caesarian section
  HP:0008947Infantile muscular hypotonia
  HP:0100501Recurrent bronchiolitis
  HP:0003789Minicore myopathy
  HP:0000544External ophthalmoplegia
  HP:0001605Vocal cord paralysis
  HP:0003712Skeletal muscle hypertrophy
  HP:0012507Weakness of orbicularis oculi muscle
  HP:0009816Lower limb undergrowth
  HP:0008935Generalized neonatal hypotonia
  HP:0003484Upper limb muscle weakness
  HP:0008331Elevated creatine kinase after exercise
  HP:0001315Reduced tendon reflexes
  HP:0012473Tongue atrophy
  HP:0003273Hip contracture
  HP:0006380Knee flexion contracture
  HP:0003752Episodic flaccid weakness
  HP:0100298Motheaten muscle fibers
  HP:0003693Distal amyotrophy
  HP:0002167Neurological speech impairment
  HP:0003388Easy fatigability
  HP:0001348Brisk reflexes
  HP:0003445EMG: neuropathic changes
  HP:0009063Progressive distal muscle weakness
  HP:0003720Generalized muscle hypertrophy
  HP:0002493Upper motor neuron dysfunction
  HP:0012448Delayed myelination
  HP:0001338Partial agenesis of the corpus callosum
  HP:0006879Pontocerebellar atrophy
  HP:0200101Decreased/absent ankle reflexes
  HP:0009020Exercise-induced muscle fatigue
  HP:0002067Bradykinesia
  HP:0012751Abnormal basal ganglia MRI signal intensity
  HP:0003355Aminoaciduria
  HP:0012450Chronic constipation
  HP:0011834Moyamoya phenomenon
  HP:0001297Stroke
  HP:0200049Upper limb hypertonia
  HP:0008981Calf muscle hypertrophy
  HP:0006785Limb-girdle muscular dystrophy
  HP:0006957Loss of ability to walk
  HP:0030098Reduced muscle dystrophin expression
  HP:0030115Reduced muscle fiber dysferlin
  HP:0002058Myopathic facies
  HP:0007858Chorioretinal lacunae
  HP:0006657Hypoplasia of first ribs
  HP:0007165Periventricular heterotopia
  HP:00097793-4 toe syndactyly
  HP:0010665Bilateral coxa valga
  HP:0007598Bilateral single transverse palmar creases
  HP:0006101Finger syndactyly
  HP:0010511Long toe
  HP:0002370Poor coordination
  HP:0000480Retinal coloboma
  HP:0001770Toe syndactyly
  HP:0010851EEG with burst suppression
  HP:0002791Hypoventilation
  HP:0040075Hypopituitarism
  HP:0012506Small pituitary gland
  HP:0000538Pseudopapilledema
  HP:0012717Severe conductive hearing impairment
  HP:0001370Rheumatoid arthritis
  HP:0000016Urinary retention
  HP:0012537Food intolerance
  HP:0011297Abnormal digit morphology
  HP:0001273Abnormal corpus callosum morphology
  HP:0030148Heart murmur
  HP:0045018Partial duplication of eyebrows
  HP:0008998Pectoralis hypoplasia
  HP:0001707Abnormal right ventricle morphology
  HP:0001540Diastasis recti
  HP:0100693Iridodonesis
  HP:0002265Large fleshy ears
  HP:0001132Lens subluxation
  HP:0004927Pulmonary artery dilatation
  HP:0005619Thoracolumbar kyphosis
  HP:0008619Bilateral sensorineural hearing impairment
  HP:0001045Vitiligo
  HP:0009124Abnormal adipose tissue morphology
  HP:0002979Bowing of the legs
  HP:0000455Broad nasal tip
  HP:0001007Hirsutism
  HP:0010314Premature thelarche
  HP:0000075Renal duplication
  HP:0000368Low-set, posteriorly rotated ears
  HP:0001052Nevus flammeus
  HP:0200048Cyanotic episode
  HP:0001902Giant platelets
  HP:0030043Hip subluxation
  HP:0002938Lumbar hyperlordosis
  HP:0030084Clinodactyly
  HP:0005560Imbalanced hemoglobin synthesis
  HP:0001539Omphalocele
  HP:0009778Short thumb
  HP:0002277Horner syndrome
  HP:0011701Multifocal atrial tachycardia
  HP:0005274Prominent nasal tip
  HP:0001262Excessive daytime somnolence
  HP:0001285Spastic tetraparesis
  HP:0012171Stereotypical hand wringing
  HP:0002518Abnormality of the periventricular white matter
  HP:0005692Joint hyperflexibility
  HP:0007440Generalized hyperpigmentation
  HP:0001805Onychogryposis
  HP:0011945Bronchiolitis obliterans organizing pneumonia
  HP:0003763Bruxism
  HP:0010500Hyperextensibility of the knee
  HP:0040115Abnormality of the Eustachian tube
  HP:0008751Laryngeal cleft
  HP:0000403Recurrent otitis media
  HP:0001787Abnormal delivery
  HP:0002571Achalasia
  HP:0002615Hypotension
  HP:0003550Predominantly lower limb lymphedema
  HP:0030363Primary Caesarian section
  HP:0001727Thromboembolic stroke
  HP:0100603Toxemia of pregnancy
  HP:0010836Abnormal circulating copper concentration
  HP:0000356Abnormality of the outer ear
  HP:0002197Generalized-onset seizure
  HP:0011436Abnormal maternal serum screening
  HP:0003517Birth length greater than 97th percentile
  HP:0003561Birth length less than 3rd percentile
  HP:0012188Hyperemesis gravidarum
  HP:0010519Increased fetal movement
  HP:0030244Maternal fever in pregnancy
  HP:0008071Maternal hypertension
  HP:0100622Maternal seizure
  HP:0011438Maternal teratogenic exposure
  HP:0001998Neonatal hypoglycemia
  HP:0040187Neonatal sepsis
  HP:0002033Poor suck
  HP:0006579Prolonged neonatal jaundice
  HP:0001724obsolete Aortic dilatation
  HP:0010621Cutaneous syndactyly of toes
  HP:0001880Eosinophilia
  HP:0000162Glossoptosis
  HP:0100578Lipoatrophy
  HP:0002562Low-set nipples
  HP:0012893Neck muscle hypertrophy
  HP:0001027Soft, doughy skin
  HP:0100738Abnormal eating behavior
  HP:0007328Impaired pain sensation
  HP:0002878Respiratory failure
  HP:0001776Bilateral talipes equinovarus
  HP:0001360Holoprosencephaly
  HP:0001973Autoimmune thrombocytopenia
  HP:0100749Chest pain
  HP:0012531Pain
  HP:0007585Skin fragility with non-scarring blistering
  HP:0002108Spontaneous pneumothorax
  HP:0006562Viral hepatitis
  HP:0012647Abnormal inflammatory response
  HP:0012088Abnormal urinary odor
  HP:0011458Abdominal symptom
  HP:0002829Arthralgia
  HP:0010783Erythema
  HP:0010307Stridor
  HP:0001269Hemiparesis
  HP:0006532Recurrent pneumonia
  HP:0002580Volvulus
  HP:0012387Bronchitis
  HP:0001266Choreoathetosis
  HP:0001531Failure to thrive in infancy
  HP:0011470Nasogastric tube feeding in infancy
  HP:0001361Nystagmus-induced head nodding
  HP:0001997Gout
  HP:0000965Cutis marmorata
  HP:0010316Ebstein anomaly of the tricuspid valve
  HP:0010543Opsoclonus
  HP:0007704Paroxysmal involuntary eye movements
  HP:0030364Secondary Caesarian section
  HP:0007738Uncontrolled eye movements
  HP:0030366Delivery by Odon device
  HP:0011411Forceps delivery
  HP:0030369Induced vaginal delivery
  HP:0005268Spontaneous abortion
  HP:0030365Vaginal birth after Caesarian
  HP:0011412Ventouse delivery
  HP:0002572Episodic vomiting
  HP:0030350Erythematous papule
  HP:0001386Joint swelling
  HP:0000147Polycystic ovaries
  HP:0012412Premature adrenarche
  HP:0004411Deviated nasal septum
  HP:0040183Encopresis
  HP:0100507Reduced blood folate concentration
  HP:0007011Fourth cranial nerve palsy
  HP:0000375Abnormal cochlea morphology
  HP:0009911Abnormal temporal bone morphology
  HP:0000081Duplicated collecting system
  HP:0006894Hypoplastic olfactory lobes
  HP:0011380Morphological abnormality of the semicircular canal
  HP:0000110Renal dysplasia
  HP:0030025Auricular pit
  HP:0010044Short 4th metacarpal
  HP:0010047Short 5th metacarpal
  HP:0000201Pierre-Robin sequence
  HP:0100837Atrophodermia vermiculata
  HP:0002673Coxa valga
  HP:0001476Delayed closure of the anterior fontanelle
  HP:0011069Increased number of teeth
  HP:0009879Simplified gyral pattern
  HP:0006315Single median maxillary incisor
  HP:0001194Abnormalities of placenta or umbilical cord
  HP:0100767Abnormal placenta morphology
  HP:0006543Cardiorespiratory arrest
  HP:0003074Hyperglycemia
  HP:0000842Hyperinsulinemia
  HP:0011951Aspiration pneumonia
  HP:0006528Chronic lung disease
  HP:0002383Encephalitis
  HP:0000388Otitis media
  HP:0002530Axial dystonia
  HP:0002780Bronchomalacia
  HP:0008755Laryngotracheomalacia
  HP:0000308Microretrognathia
  HP:0002786Tracheobronchomalacia
  HP:0012389Appendicular hypotonia
  HP:0011323Cleft of chin
  HP:0000417Slender nose
  HP:0001863Toe clinodactyly
  HP:0008386Aplasia/Hypoplasia of the nails
  HP:0006989Dysplastic corpus callosum
  HP:0100954Open operculum
  HP:0004482Relative macrocephaly
  HP:3000033Abnormal nasopharyngeal adenoid morphology
  HP:0009062Infantile axial hypotonia
  HP:0002189obsolete Excessive daytime sleepiness
  HP:0002141Gait imbalance
  HP:0012734Ketotic hypoglycemia
  HP:0005968Temperature instability
  HP:0012538Gluten intolerance
  HP:0000979Purpura
  HP:0001988Recurrent hypoglycemia
  HP:0001488Bilateral ptosis
  HP:0011229Broad eyebrow
  HP:0004440Coronal craniosynostosis
  HP:0004453Overfolding of the superior helices
  HP:0012547Abnormal involuntary eye movements
  HP:0100814Blue nevus
  HP:0010751Dimple chin
  HP:0007087obsolete Involuntary jerking movements
  HP:0012498Nuchal cord
  HP:0002472Small cerebral cortex
  HP:0100307Cerebellar hemisphere hypoplasia
  HP:0002151Increased serum lactate
  HP:0001698Pericardial effusion
  HP:0006903Congenital peripheral neuropathy
  HP:0006895Lower limb hypertonia
  HP:0002744Bilateral cleft lip and palate
  HP:0010664Fusion of the left and right thalami
  HP:0000327Hypoplasia of the maxilla
  HP:0000474Thickened nuchal skin fold
  HP:0000105Enlarged kidney
  HP:0000113Polycystic kidney dysplasia
  HP:0000104Renal agenesis
  HP:0001362Calvarial skull defect
  HP:0008245Pituitary hypothyroidism
  HP:0001552Barrel-shaped chest
  HP:0006297Hypoplasia of dental enamel
  HP:0100023Recurrent hand flapping
  HP:0005518Increased mean corpuscular volume
  HP:0012418Hypoxemia
  HP:0100259Postaxial polydactyly
  HP:0010814Abnormal position of hair whorl
  HP:0003764Nevus
  HP:0000445Wide nose
  HP:0010677Enuresis nocturna
  HP:0001510Growth delay
  HP:0012428Prominent calcaneus
  HP:0012471Thick vermilion border
  HP:0007110Central hypoventilation
  HP:0010614Fibroma
  HP:0001034Hypermelanotic macule
  HP:0011365Patchy hypopigmentation of hair
  HP:0001920Renal artery stenosis
  HP:0002828Multiple joint contractures
  HP:0002144Tethered cord
  HP:0010964Abnormal circulating long-chain fatty-acid concentration
  HP:0010536Central sleep apnea
  HP:0011262Crimped helix
  HP:0040079Irregular dentition
  HP:0011481Abnormal lacrimal duct morphology
  HP:0000220Velopharyngeal insufficiency
  HP:0002153Hyperkalemia
  HP:0002148Hypophosphatemia
  HP:0012621Persistent cloaca
  HP:0000867Secondary hyperparathyroidism
  HP:0003762Uterus didelphys
  HP:0100512Low levels of vitamin D
  HP:0012156Hemophagocytosis
  HP:0008209Premature ovarian insufficiency
  HP:0004349Reduced bone mineral density
  HP:0001924Sideroblastic anemia
  HP:0011703Sinus tachycardia
  HP:0010609Skin tags
  HP:0002725Systemic lupus erythematosus
  HP:0003193Allergic rhinitis
  HP:0006896Hypnopompic hallucinations
  HP:0002524Cataplexy
  HP:0005227Adenomatous colonic polyposis
  HP:0012173Orthostatic tachycardia
  HP:0001271Polyneuropathy
  HP:0009120Aplasia/Hypoplasia involving the sinuses
  HP:0000625Eyelid coloboma
  HP:0009754Fibrous syngnathia
  HP:0012478Temporomandibular joint ankylosis
  HP:00012332-3 finger syndactyly
  HP:0000811Abnormal external genitalia
  HP:0005120Abnormal cardiac atrium morphology
  HP:0008388Abnormal toenail morphology
  HP:0011467Absent gallbladder
  HP:0010760Absent toe
  HP:0001545Anteriorly placed anus
  HP:0001640Cardiomegaly
  HP:0002990Fibular aplasia
  HP:0004443Lambdoidal craniosynostosis
  HP:0008569Microtia, second degree
  HP:0006277Pancreatic hyperplasia
  HP:0010445Primum atrial septal defect
  HP:0011640Single coronary artery origin
  HP:0011608Type II truncus arteriosus
  HP:0011327Posterior plagiocephaly
  HP:0007655Eversion of lateral third of lower eyelids
  HP:0010747Medial flaring of the eyebrow
  HP:0005957Breathing dysregulation
  HP:0000992Cutaneous photosensitivity
  HP:0011995Atrial septal dilatation
  HP:0000377Abnormality of the pinna
  HP:0011266Microtia, first degree
  HP:0012650Perisylvian polymicrogyria
  HP:0004970Ascending tubular aorta aneurysm
  HP:0008348Decreased circulating IgG2 level
  HP:0012115Hepatitis
  HP:0006979Sleep-wake cycle disturbance
  HP:0008587Mild neurosensory hearing impairment
  HP:00060973-4 finger syndactyly
  HP:0005263Gastritis
  HP:0200043Verrucae
  HP:0009600Flexion contracture of thumb
  HP:0010818Generalized tonic seizure
  HP:0002599Head titubation
  HP:0002090Pneumonia
  HP:0030423Splenic cyst
  HP:0030187Titubation
  HP:0002375Hypokinesia
  HP:0007166Paroxysmal dyskinesia
  HP:0003077Hyperlipidemia
  HP:0000017Nocturia
  HP:0100555Asymmetric growth
  HP:0011847Giant cell tumor of bone
  HP:0000112Nephropathy
  HP:0000246Sinusitis
  HP:0001012Multiple lipomas
  HP:0000851Congenital hypothyroidism
  HP:0002345Action tremor
  HP:0002677Small foramen magnum
  HP:0011947Respiratory tract infection
  HP:0012151Hemothorax
  HP:0005988Congenital muscular torticollis
  HP:0002329Drowsiness
  HP:0012395Seasonal allergy
  HP:0011679Tetralogy of Fallot with pulmonary stenosis
  HP:0001864Clinodactyly of the 5th toe
  HP:0006934Congenital nystagmus
  HP:0100355Contractures of the distal interphalangeal joint of the 5th toe
  HP:0007894Hypopigmentation of the fundus
  HP:0012377Hemianopia
  HP:0002354Memory impairment
  HP:0000872Hashimoto thyroiditis
  HP:0002519Hypnagogic hallucinations
  HP:0010647Abnormal elasticity of skin
  HP:0002592Gastric ulcer
  HP:0004938Tortuous cerebral arteries
  HP:0004948Vascular tortuosity
  HP:0002516Increased intracranial pressure
  HP:0006460Increased laxity of ankles
  HP:0002317Unsteady gait
  HP:0000182Movement abnormality of the tongue
  HP:0009887Abnormality of hair pigmentation
  HP:0005824Clinodactyly of the 2nd toe
  HP:0002212Curly hair
  HP:0009803Short phalanx of finger
  HP:0000572Visual loss
  HP:0005216Impaired mastication
  HP:0000619Impaired convergence
  HP:0002403Positive Romberg sign
  HP:0008744Abnormal aryepiglottic fold morphology
  HP:0002374Diminished movement
  HP:0008277Abnormal blood zinc concentration
  HP:0012781Mid-frequency hearing loss
  HP:0100758Gangrene
  HP:0003256Abnormality of the coagulation cascade
  HP:0004387Enterocolitis
  HP:0011029Internal hemorrhage
  HP:0011649Patent ductus arteriosus after premature birth
  HP:0012050Anasarca
  HP:0001683Ectopia cordis
  HP:0011682Perimembranous ventricular septal defect
  HP:0010624Aplastic/hypoplastic toenail
  HP:0002705High, narrow palate
  HP:0011340Incomplete cleft of the upper lip
  HP:0011613Interrupted aortic arch type B
  HP:0006167Prominent proximal interphalangeal joints
  HP:0002918Hypermagnesemia
  HP:0011937Hypoplastic fifth toenail
  HP:0001067Neurofibromas
  HP:0011403Abnormal umbilical cord blood vessels
  HP:0003316Butterfly vertebrae
  HP:0002247Duodenal atresia
  HP:0008439Lumbar hemivertebrae
  HP:0011599Mesocardia
  HP:0008467Thoracic hemivertebrae
  HP:0004626Lumbar scoliosis
  HP:0006808Cerebral hypomyelination
  HP:0002926Abnormality of thyroid physiology
  HP:0007970Congenital 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