TaoMedAI/RareMedData huggingface dataset:
Gene: PCYT1A
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCYT1A
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PCYT1A
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCYT1A
Phenotype: Increased hepatic echogenicity (HP:0031141)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY (OMIM:608940)
Gene: PCYT1A
Phenotype: Rhizomelia (HP:0008905)
Associated disease: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome; SMD-CRD (ORPHA:85167)
Gene: PCYT1A
Phenotype: Rhizomelia (HP:0008905)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY (OMIM:608940)
Gene: PCYT1A
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCYT1A
Phenotype: Hypotriglyceridemia (HP:0012153)
Associated disease: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome; SMD-CRD (ORPHA:85167)
Gene: PCYT1A
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCYT1A
Phenotype: Eye poking (HP:0001483)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: PCYT1A
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PCYT1A
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome; SMD-CRD (ORPHA:85167)
Gene: PCYT1A
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PCYT1A
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY (OMIM:608940)
Gene: PCYT1A
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 5 (OMIM:620680)
Gene: PCYT1A
Phenotype: Ovoid vertebral bodies (HP:0003300)
Associated disease: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome; SMD-CRD (ORPHA:85167)
Gene: PCYT1A
Phenotype: Ovoid vertebral bodies (HP:0003300)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY (OMIM:608940)
Gene: PCYT1A
Phenotype: Encephalocele (HP:0002084)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: PCYT1A
Phenotype: Narrow greater sciatic notch (HP:0003375)
Associated disease: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome; SMD-CRD (ORPHA:85167)
Gene: PCYT1A
Phenotype: Narrow greater sciatic notch (HP:0003375)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY (OMIM:608940)
Gene: PCYT1A
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PCYT1A
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCYT1A
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome; SMD-CRD (ORPHA:85167)
Gene: PCYT1A
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 5 (OMIM:620680)
Gene: PCYT1A
Phenotype: Ivory epiphyses (HP:0010583)
Associated disease: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome; SMD-CRD (ORPHA:85167)
Gene: PCYT1A
Phenotype: Infantile onset (HP:0003593)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 5 (OMIM:620680)
Gene: PCYT1A
Phenotype: Infantile onset (HP:0003593)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY (OMIM:608940)
Gene: PCYT1A
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: PCYT1A
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCYT1A
Phenotype: Severe short stature (HP:0003510)
Associated disease: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome; SMD-CRD (ORPHA:85167)
Gene: PCYT1A
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PCYT1A
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCYT1A
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome; SMD-CRD (ORPHA:85167)
Gene: PCYT1A
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCYT1A
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PCYT1A
Phenotype: Loss of subcutaneous adipose tissue in limbs (HP:0003635)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 5 (OMIM:620680)
Gene: PCYT1A
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PCYT1A
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PCYT1A
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PCYT1A
Phenotype: Aplasia/Hypoplasia of the cerebellar vermis (HP:0006817)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: PCYT1A
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCYT1A
Phenotype: Nystagmus (HP:0000639)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: PCYT1A
Phenotype: Nystagmus (HP:0000639)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY (OMIM:608940)
Gene: PCYT1A
Phenotype: Nystagmus (HP:0000639)
Associated disease: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome; SMD-CRD (ORPHA:85167)
Gene: PCYT1A
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PCYT1A
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PCYT1A
Phenotype: Photophobia (HP:0000613)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: PCYT1A
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCYT1A
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome; SMD-CRD (ORPHA:85167)
Gene: PCYT1A
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PCYT1A
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCYT1A
Phenotype: Short metacarpal (HP:0010049)
Associated disease: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome; SMD-CRD (ORPHA:85167)
Gene: PCYT1A
Phenotype: Short metacarpal (HP:0010049)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY (OMIM:608940)
Gene: PCYT1A
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: PCYT1A
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCYT1A
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY (OMIM:608940)
Gene: PCYT1A
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PCYT1A
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PCYT1A
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCYT1A
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCYT1A
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY (OMIM:608940)
Gene: PCYT1A
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCYT1A
Phenotype: Short stature (HP:0004322)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 5 (OMIM:620680)
Gene: PCYT1A
Phenotype: Short stature (HP:0004322)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY (OMIM:608940)
Gene: PCYT1A
Phenotype: Decreased adiponectin level (HP:0030685)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 5 (OMIM:620680)
Gene: PCYT1A
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 5 (OMIM:620680)
Gene: PCYT1A
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PCYT1A
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PCYT1A
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCYT1A
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: PCYT1A
Phenotype: Flared metaphysis (HP:0003015)
Associated disease: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome; SMD-CRD (ORPHA:85167)
Gene: PCYT1A
Phenotype: Flared metaphysis (HP:0003015)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY (OMIM:608940)
Gene: PCYT1A
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCYT1A
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY (OMIM:608940)
Gene: PCYT1A
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCYT1A
Phenotype: Short long bone (HP:0003026)
Associated disease: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome; SMD-CRD (ORPHA:85167)
Gene: PCYT1A
Phenotype: Short long bone (HP:0003026)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY (OMIM:608940)
Gene: PCYT1A
Phenotype: Metaphyseal irregularity (HP:0003025)
Associated disease: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome; SMD-CRD (ORPHA:85167)
Gene: PCYT1A
Phenotype: Metaphyseal irregularity (HP:0003025)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY (OMIM:608940)
Gene: PCYT1A
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCYT1A
Phenotype: Metaphyseal cupping (HP:0003021)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY (OMIM:608940)
Gene: PCYT1A
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCYT1A
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCYT1A
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCYT1A
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCYT1A
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: PCYT1A
Phenotype: Abnormal optic disc morphology (HP:0012795)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: PCYT1A
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PCYT1A
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PCYT1A
Phenotype: Young adult onset (HP:0011462)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 5 (OMIM:620680)
Gene: PCYT1A
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCYT1A
Phenotype: Lipodystrophy (HP:0009125)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 5 (OMIM:620680)
Gene: PCYT1A
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCYT1A
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCYT1A
Phenotype: Platyspondyly (HP:0000926)
Associated disease: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome; SMD-CRD (ORPHA:85167)
Gene: PCYT1A
Phenotype: Platyspondyly (HP:0000926)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY (OMIM:608940)
Gene: PCYT1A
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCYT1A
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCYT1A
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PCYT1A
Phenotype: Cupped ribs (HP:0000887)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY (OMIM:608940)
Gene: PCYT1A
Phenotype: Cupped ribs (HP:0000887)
Associated disease: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome; SMD-CRD (ORPHA:85167)
Gene: PCYT1A
Phenotype: Insulin resistance (HP:0000855)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 5 (OMIM:620680)
Gene: PCYT1A
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 5 (OMIM:620680)
Gene: PCYT1A
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PCYT1A
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCYT1A
Phenotype: Severe platyspondyly (HP:0004565)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY (OMIM:608940)
Gene: PCYT1A
Phenotype: Decreased HDL cholesterol concentration (HP:0003233)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 5 (OMIM:620680)
Gene: PCYT1A
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PCYT1A
Phenotype: Abnormality of macular pigmentation (HP:0008002)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY (OMIM:608940)
Gene: PCYT1A
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCYT1A
Phenotype: Hypoplastic ilia (HP:0000946)
Associated disease: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome; SMD-CRD (ORPHA:85167)
Gene: PCYT1A
Phenotype: Short finger (HP:0009381)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY (OMIM:608940)
Gene: PCYT1A
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: PCYT1A
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome; SMD-CRD (ORPHA:85167)
Gene: PCYT1A
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCYT1A
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCYT1A
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PCYT1A
Phenotype: Coxa vara (HP:0002812)
Associated disease: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome; SMD-CRD (ORPHA:85167)
Gene: PCYT1A
Phenotype: Coxa vara (HP:0002812)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY (OMIM:608940)
Gene: PCYT1A
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCYT1A
Phenotype: Metaphyseal spurs (HP:0005054)
Associated disease: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome; SMD-CRD (ORPHA:85167)
Gene: PCYT1A
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCYT1A
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PCYT1A
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PCYT1A
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCYT1A
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PCYT1A
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PCYT1A
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCYT1A
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCYT1A
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 5 (OMIM:620680)
Gene: PCYT1A
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome; SMD-CRD (ORPHA:85167)
Gene: PCYT1A
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: PCYT1A
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PCYT1A
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCYT1A
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PCYT1A
Phenotype: Tibial bowing (HP:0002982)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY (OMIM:608940)
Gene: PCYT1A
Phenotype: Femoral bowing (HP:0002980)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY (OMIM:608940)
Gene: PCYT1A
Phenotype: Bowing of the legs (HP:0002979)
Associated disease: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome; SMD-CRD (ORPHA:85167)
Gene: PCYT1A
Phenotype: Bowing of the legs (HP:0002979)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY (OMIM:608940)
Gene: PCYT1A
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCYT1A
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCYT1A
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PCYT1A
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome; SMD-CRD (ORPHA:85167)
Gene: PCYT1A
Phenotype: Corneal opacity (HP:0007957)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY (OMIM:608940)
Gene: PCYT1A
Phenotype: Retinal thinning (HP:0030329)
Associated disease: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome; SMD-CRD (ORPHA:85167)
Gene: PCYT1A
Phenotype: Retinal thinning (HP:0030329)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY (OMIM:608940)
Gene: PCYT1A
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY (OMIM:608940)
Gene: PCYT1A
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCYT1A
Phenotype: Strabismus (HP:0000486)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY (OMIM:608940)
Gene: PCYT1A
Phenotype: Strabismus (HP:0000486)
Associated disease: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome; SMD-CRD (ORPHA:85167)
Gene: PCYT1A
Phenotype: Slow pupillary light response (HP:0030211)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: PCYT1A
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCYT1A
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: PCYT1A
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCYT1A
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCYT1A
Phenotype: Cataract (HP:0000518)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: PCYT1A
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PCYT1A
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCYT1A
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: PCYT1A
Phenotype: Decreased body fat percentage (HP:0041079)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 5 (OMIM:620680)
Gene: PCYT1A
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY (OMIM:608940)
Gene: PCYT1A
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PCYT1A
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCYT1A
Phenotype: Visual impairment (HP:0000505)
Associated disease: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome; SMD-CRD (ORPHA:85167)
Gene: PCYT1A
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PCYT1A
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCYT1A
Phenotype: Coloboma (HP:0000589)
Associated disease: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome; SMD-CRD (ORPHA:85167)
Gene: PCYT1A
Phenotype: Optic disc coloboma (HP:0000588)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY (OMIM:608940)
Gene: PCYT1A
Phenotype: Keratoconus (HP:0000563)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: PCYT1A
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome; SMD-CRD (ORPHA:85167)
Gene: PCYT1A
Phenotype: Microphthalmia (HP:0000568)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY (OMIM:608940)
Gene: PCYT1A
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: PCYT1A
Phenotype: Abnormality of refraction (HP:0000539)
Associated disease: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome; SMD-CRD (ORPHA:85167)
Gene: PCYT1A
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCYT1A
Phenotype: Undetectable electroretinogram (HP:0000550)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY (OMIM:608940)
Gene: PCYT1A
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PCYT1A
Phenotype: Cone/cone-rod dystrophy (HP:0000548)
Associated disease: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome; SMD-CRD (ORPHA:85167)
Gene: PCYT1A
Phenotype: Cone/cone-rod dystrophy (HP:0000548)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY (OMIM:608940)
Gene: PCYT1A
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: PCYT1A
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PCYT1A
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PCYT1A
Phenotype: Myopia (HP:0000545)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY (OMIM:608940)
Gene: PDCD1
Phenotype: Ground-glass opacification (HP:0025179)
Associated disease:  (OMIM:621004)
Gene: PDCD1
Phenotype: Anti-La/SS-B antibody positivity (HP:0032235)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)