TaoMedAI/RareMedData huggingface dataset:
Gene: WASF1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES (OMIM:618707)
Gene: KYNU
Phenotype: Progressive encephalopathy (HP:0002448)
Associated disease: Kynureninase deficiency; Xanthurenic aciduria; Hydroxykynureninuria (ORPHA:79155)
Gene: KYNU
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KYNU
Phenotype: Encephalopathy (HP:0001298)
Associated disease: Kynureninase deficiency; Xanthurenic aciduria; Hydroxykynureninuria (ORPHA:79155)
Gene: KYNU
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KYNU
Phenotype: Hypertonia (HP:0001276)
Associated disease: Kynureninase deficiency; Xanthurenic aciduria; Hydroxykynureninuria (ORPHA:79155)
Gene: KYNU
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KYNU
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Kynureninase deficiency; Xanthurenic aciduria; Hydroxykynureninuria (ORPHA:79155)
Gene: KYNU
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KYNU
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Kynureninase deficiency; Xanthurenic aciduria; Hydroxykynureninuria (ORPHA:79155)
Gene: KYNU
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KYNU
Phenotype: Coma (HP:0001259)
Associated disease: Kynureninase deficiency; Xanthurenic aciduria; Hydroxykynureninuria (ORPHA:79155)
Gene: KYNU
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KYNU
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2 (OMIM:617661)
Gene: KYNU
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KYNU
Phenotype: Elevated circulating 3-hydroxykynurenine concentration (HP:6000776)
Associated disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2 (OMIM:617661)
Gene: KYNU
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KYNU
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KYNU
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KYNU
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KYNU
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KYNU
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYDROXYKYNURENINURIA (OMIM:236800)
Gene: KYNU
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2 (OMIM:617661)
Gene: KYNU
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KYNU
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KYNU
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KYNU
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KYNU
Phenotype: Hypotension (HP:0002615)
Associated disease: Kynureninase deficiency; Xanthurenic aciduria; Hydroxykynureninuria (ORPHA:79155)
Gene: KYNU
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KYNU
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KYNU
Phenotype: Rhizomelia (HP:0008905)
Associated disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2 (OMIM:617661)
Gene: KYNU
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KYNU
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KYNU
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2 (OMIM:617661)
Gene: KYNU
Phenotype: Vomiting (HP:0002013)
Associated disease: HYDROXYKYNURENINURIA (OMIM:236800)
Gene: KYNU
Phenotype: Frontal bossing (HP:0002007)
Associated disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2 (OMIM:617661)
Gene: KYNU
Phenotype: Breathing dysregulation (HP:0005957)
Associated disease: Kynureninase deficiency; Xanthurenic aciduria; Hydroxykynureninuria (ORPHA:79155)
Gene: KYNU
Phenotype: Elevated urinary xanthurenic acid level (HP:6000121)
Associated disease: HYDROXYKYNURENINURIA (OMIM:236800)
Gene: KYNU
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KYNU
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KYNU
Phenotype: Vertebral segmentation defect (HP:0003422)
Associated disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2 (OMIM:617661)
Gene: KYNU
Phenotype: Elevated urinary 3-hydroxykynurenine level (HP:6000265)
Associated disease: HYDROXYKYNURENINURIA (OMIM:236800)
Gene: KYNU
Phenotype: Congenital onset (HP:0003577)
Associated disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2 (OMIM:617661)
Gene: KYNU
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KYNU
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KYNU
Phenotype: Headache (HP:0002315)
Associated disease: Kynureninase deficiency; Xanthurenic aciduria; Hydroxykynureninuria (ORPHA:79155)
Gene: KYNU
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KYNU
Phenotype: Congenital sensorineural hearing impairment (HP:0008527)
Associated disease: Kynureninase deficiency; Xanthurenic aciduria; Hydroxykynureninuria (ORPHA:79155)
Gene: KYNU
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KYNU
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KYNU
Phenotype: Neonatal onset (HP:0003623)
Associated disease: HYDROXYKYNURENINURIA (OMIM:236800)
Gene: KYNU
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KYNU
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KYNU
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KYNU
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2 (OMIM:617661)
Gene: KYNU
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KYNU
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KYNU
Phenotype: Renal tubular acidosis (HP:0001947)
Associated disease: Kynureninase deficiency; Xanthurenic aciduria; Hydroxykynureninuria (ORPHA:79155)
Gene: KYNU
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: Kynureninase deficiency; Xanthurenic aciduria; Hydroxykynureninuria (ORPHA:79155)
Gene: KYNU
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KYNU
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KYNU
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KYNU
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KYNU
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KYNU
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KYNU
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KYNU
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KYNU
Phenotype: Short stature (HP:0004322)
Associated disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2 (OMIM:617661)
Gene: KYNU
Phenotype: Hypoplastic left heart (HP:0004383)
Associated disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2 (OMIM:617661)
Gene: KYNU
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KYNU
Phenotype: Abnormal circulating tryptophan concentration (HP:0004365)
Associated disease: Kynureninase deficiency; Xanthurenic aciduria; Hydroxykynureninuria (ORPHA:79155)
Gene: KYNU
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KYNU
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KYNU
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KYNU
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KYNU
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KYNU
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KYNU
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KYNU
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KYNU
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: Kynureninase deficiency; Xanthurenic aciduria; Hydroxykynureninuria (ORPHA:79155)
Gene: KYNU
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2 (OMIM:617661)
Gene: KYNU
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KYNU
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KYNU
Phenotype: Narrow chest (HP:0000774)
Associated disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2 (OMIM:617661)
Gene: KYNU
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KYNU
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KYNU
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KYNU
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KYNU
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KYNU
Phenotype: 11 pairs of ribs (HP:0000878)
Associated disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2 (OMIM:617661)
Gene: KYNU
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KYNU
Phenotype: Stomatitis (HP:0010280)
Associated disease: Kynureninase deficiency; Xanthurenic aciduria; Hydroxykynureninuria (ORPHA:79155)
Gene: KYNU
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KYNU
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KYNU
Phenotype: Dry skin (HP:0000958)
Associated disease: Kynureninase deficiency; Xanthurenic aciduria; Hydroxykynureninuria (ORPHA:79155)
Gene: KYNU
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KYNU
Phenotype: Jaundice (HP:0000952)
Associated disease: HYDROXYKYNURENINURIA (OMIM:236800)
Gene: KYNU
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KYNU
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KYNU
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KYNU
Phenotype: Microcephaly (HP:0000252)
Associated disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2 (OMIM:617661)
Gene: KYNU
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KYNU
Phenotype: Anteriorly placed anus (HP:0001545)
Associated disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2 (OMIM:617661)
Gene: KYNU
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KYNU
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KYNU
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KYNU
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KYNU
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KYNU
Phenotype: Hemivertebrae (HP:0002937)
Associated disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2 (OMIM:617661)
Gene: KYNU
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KYNU
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KYNU
Phenotype: Low-set ears (HP:0000369)
Associated disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2 (OMIM:617661)
Gene: KYNU
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KYNU
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KYNU
Phenotype: Tachycardia (HP:0001649)
Associated disease: Kynureninase deficiency; Xanthurenic aciduria; Hydroxykynureninuria (ORPHA:79155)
Gene: KYNU
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2 (OMIM:617661)
Gene: KYNU
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KYNU
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KYNU
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KYNU
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2 (OMIM:617661)
Gene: KYNU
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KYNU
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KYNU
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KYNU
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KYNU
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KYNU
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KYNU
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KYNU
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KYNU
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KYNU
Phenotype: Talipes (HP:0001883)
Associated disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2 (OMIM:617661)
Gene: KYNU
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AP3D1
Phenotype: Ocular albinism (HP:0001107)
Associated disease: HERMANSKY-PUDLAK SYNDROME 10 (OMIM:617050)
Gene: AP3D1
Phenotype: Ocular albinism (HP:0001107)
Associated disease: Ocular albinism with late-onset sensorineural deafness; Ocular albinism with late-onset sensorineural hearing loss (ORPHA:1000)
Gene: AP3D1
Phenotype: Ocular albinism (HP:0001107)
Associated disease: X-linked recessive ocular albinism; Ocular albinism type 1; XLOA; Ocular albinism, Nettleship-Falls type; OA1 (ORPHA:54)
Gene: AP3D1
Phenotype: Abnormal macular morphology (HP:0001103)
Associated disease: X-linked recessive ocular albinism; Ocular albinism type 1; XLOA; Ocular albinism, Nettleship-Falls type; OA1 (ORPHA:54)
Gene: AP3D1
Phenotype: Poor head control (HP:0002421)
Associated disease: HERMANSKY-PUDLAK SYNDROME 10 (OMIM:617050)
Gene: AP3D1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: HERMANSKY-PUDLAK SYNDROME 10 (OMIM:617050)
Gene: AP3D1
Phenotype: Dystonia (HP:0001332)
Associated disease: HERMANSKY-PUDLAK SYNDROME 10 (OMIM:617050)
Gene: AP3D1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HERMANSKY-PUDLAK SYNDROME 10 (OMIM:617050)
Gene: AP3D1
Phenotype: Freckling (HP:0001480)
Associated disease: X-linked recessive ocular albinism; Ocular albinism type 1; XLOA; Ocular albinism, Nettleship-Falls type; OA1 (ORPHA:54)
Gene: AP3D1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: HERMANSKY-PUDLAK SYNDROME 10 (OMIM:617050)
Gene: AP3D1
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: HERMANSKY-PUDLAK SYNDROME 10 (OMIM:617050)
Gene: AP3D1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: HERMANSKY-PUDLAK SYNDROME 10 (OMIM:617050)
Gene: AP3D1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: HERMANSKY-PUDLAK SYNDROME 10 (OMIM:617050)
Gene: AP3D1
Phenotype: Apnea (HP:0002104)
Associated disease: HERMANSKY-PUDLAK SYNDROME 10 (OMIM:617050)
Gene: AP3D1
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: HERMANSKY-PUDLAK SYNDROME 10 (OMIM:617050)
Gene: AP3D1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: HERMANSKY-PUDLAK SYNDROME 10 (OMIM:617050)
Gene: AP3D1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: HERMANSKY-PUDLAK SYNDROME 10 (OMIM:617050)
Gene: AP3D1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: HERMANSKY-PUDLAK SYNDROME 10 (OMIM:617050)
Gene: AP3D1
Phenotype: Albinism (HP:0001022)
Associated disease: HERMANSKY-PUDLAK SYNDROME 10 (OMIM:617050)
Gene: AP3D1
Phenotype: EEG abnormality (HP:0002353)
Associated disease: HERMANSKY-PUDLAK SYNDROME 10 (OMIM:617050)
Gene: AP3D1
Phenotype: Giant melanosomes in melanocytes (HP:0005592)
Associated disease: X-linked recessive ocular albinism; Ocular albinism type 1; XLOA; Ocular albinism, Nettleship-Falls type; OA1 (ORPHA:54)
Gene: AP3D1
Phenotype: Nystagmus (HP:0000639)
Associated disease: HERMANSKY-PUDLAK SYNDROME 10 (OMIM:617050)
Gene: AP3D1
Phenotype: Nystagmus (HP:0000639)
Associated disease: X-linked recessive ocular albinism; Ocular albinism type 1; XLOA; Ocular albinism, Nettleship-Falls type; OA1 (ORPHA:54)
Gene: AP3D1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Ocular albinism with late-onset sensorineural deafness; Ocular albinism with late-onset sensorineural hearing loss (ORPHA:1000)
Gene: AP3D1
Phenotype: Photophobia (HP:0000613)
Associated disease: X-linked recessive ocular albinism; Ocular albinism type 1; XLOA; Ocular albinism, Nettleship-Falls type; OA1 (ORPHA:54)
Gene: AP3D1
Phenotype: Photophobia (HP:0000613)
Associated disease: Ocular albinism with late-onset sensorineural deafness; Ocular albinism with late-onset sensorineural hearing loss (ORPHA:1000)
Gene: AP3D1
Phenotype: Abnormal pupil morphology (HP:0000615)
Associated disease: X-linked recessive ocular albinism; Ocular albinism type 1; XLOA; Ocular albinism, Nettleship-Falls type; OA1 (ORPHA:54)
Gene: AP3D1
Phenotype: Hypotelorism (HP:0000601)
Associated disease: HERMANSKY-PUDLAK SYNDROME 10 (OMIM:617050)
Gene: AP3D1
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: HERMANSKY-PUDLAK SYNDROME 10 (OMIM:617050)
Gene: AP3D1
Phenotype: Neoplasm of the skin (HP:0008069)
Associated disease: X-linked recessive ocular albinism; Ocular albinism type 1; XLOA; Ocular albinism, Nettleship-Falls type; OA1 (ORPHA:54)
Gene: AP3D1
Phenotype: Retrognathia (HP:0000278)
Associated disease: HERMANSKY-PUDLAK SYNDROME 10 (OMIM:617050)
Gene: AP3D1
Phenotype: Hypoplasia of the fovea (HP:0007750)
Associated disease: X-linked recessive ocular albinism; Ocular albinism type 1; XLOA; Ocular albinism, Nettleship-Falls type; OA1 (ORPHA:54)
Gene: AP3D1
Phenotype: Iris hypopigmentation (HP:0007730)
Associated disease: X-linked recessive ocular albinism; Ocular albinism type 1; XLOA; Ocular albinism, Nettleship-Falls type; OA1 (ORPHA:54)
Gene: AP3D1
Phenotype: Microcephaly (HP:0000252)
Associated disease: HERMANSKY-PUDLAK SYNDROME 10 (OMIM:617050)
Gene: AP3D1
Phenotype: Abnormal pulmonary interstitial morphology (HP:0006530)
Associated disease: HERMANSKY-PUDLAK SYNDROME 10 (OMIM:617050)
Gene: AP3D1
Phenotype: Low-set ears (HP:0000369)
Associated disease: HERMANSKY-PUDLAK SYNDROME 10 (OMIM:617050)
Gene: AP3D1
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: HERMANSKY-PUDLAK SYNDROME 10 (OMIM:617050)
Gene: AP3D1
Phenotype: Focal myoclonic seizure (HP:0011166)
Associated disease: HERMANSKY-PUDLAK SYNDROME 10 (OMIM:617050)
Gene: AP3D1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Ocular albinism with late-onset sensorineural deafness; Ocular albinism with late-onset sensorineural hearing loss (ORPHA:1000)
Gene: AP3D1
Phenotype: Macrotia (HP:0000400)
Associated disease: HERMANSKY-PUDLAK SYNDROME 10 (OMIM:617050)
Gene: AP3D1
Phenotype: Astigmatism (HP:0000483)
Associated disease: X-linked recessive ocular albinism; Ocular albinism type 1; XLOA; Ocular albinism, Nettleship-Falls type; OA1 (ORPHA:54)
Gene: AP3D1
Phenotype: Strabismus (HP:0000486)
Associated disease: X-linked recessive ocular albinism; Ocular albinism type 1; XLOA; Ocular albinism, Nettleship-Falls type; OA1 (ORPHA:54)
Gene: AP3D1
Phenotype: Strabismus (HP:0000486)
Associated disease: Ocular albinism with late-onset sensorineural deafness; Ocular albinism with late-onset sensorineural hearing loss (ORPHA:1000)
Gene: AP3D1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: HERMANSKY-PUDLAK SYNDROME 10 (OMIM:617050)
Gene: AP3D1
Phenotype: Visual impairment (HP:0000505)
Associated disease: X-linked recessive ocular albinism; Ocular albinism type 1; XLOA; Ocular albinism, Nettleship-Falls type; OA1 (ORPHA:54)
Gene: AP3D1
Phenotype: Visual impairment (HP:0000505)
Associated disease: Ocular albinism with late-onset sensorineural deafness; Ocular albinism with late-onset sensorineural hearing loss (ORPHA:1000)
Gene: AP3D1
Phenotype: Myopia (HP:0000545)
Associated disease: X-linked recessive ocular albinism; Ocular albinism type 1; XLOA; Ocular albinism, Nettleship-Falls type; OA1 (ORPHA:54)
Gene: AP3D1
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: HERMANSKY-PUDLAK SYNDROME 10 (OMIM:617050)
Gene: BTRC
Phenotype: Split hand (HP:0001171)
Associated disease: Isolated split hand-split foot malformation; Ectrodactyly; Split hand foot malformation; SHFM (ORPHA:2440)
Gene: BTRC
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BTRC
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BTRC
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTRC
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTRC
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTRC
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Isolated split hand-split foot malformation; Ectrodactyly; Split hand foot malformation; SHFM (ORPHA:2440)