NCPI FHIR Implementation Guide
0.2.0 - ci-build

NCPI FHIR Implementation Guide - Local Development build (v0.2.0). See the Directory of published versions

CodeSystem: Human Phenotype Ontology

Official URL: http://purl.obolibrary.org/obo/hp.owl Version: 0.2.0
Draft as of 2023-09-15 Computable Name: HPO

The Human Phenotype Ontology (HPO) provides a standardized vocabulary of phenotypic abnormalities encountered in human disease. Please see license of HPO at http://www.human-phenotype-ontology.org

This Code system is referenced in the content logical definition of the following value sets:

Properties

This code system defines the following properties for its concepts

CodeTypeDescription
parentcodeParent codes.
importedbooleanIndicates if the concept is imported from another code system.
rootbooleanIndicates if this concept is a root concept (i.e. Thing is equivalent or a direct parent)
deprecatedbooleanIndicates if this concept is deprecated.

Filters

CodeDescriptionoperatorValue
root= True or false.
deprecated= True or false.
imported= True or false

Concepts

This code system http://purl.obolibrary.org/obo/hp.owl provides a fragment that includes following codes in a Is-A heirarchy:

CodeDisplay
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