TaoMedAI/RareMedData huggingface dataset:
Gene: ATP6V0A2
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ATP6V0A2
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATP6V0A2
Phenotype: Slender long bones with narrow diaphyses (HP:0004993)
Associated disease: Wrinkled skin syndrome; Wrinkly skin syndrome; WSS (ORPHA:2834)
Gene: ATP6V0A2
Phenotype: High nonceruloplasmin-bound serum copper (HP:0010838)
Associated disease: Wrinkled skin syndrome; Wrinkly skin syndrome; WSS (ORPHA:2834)
Gene: ATP6V0A2
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATP6V0A2
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ATP6V0A2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ATP6V0A2
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ATP6V0A2
Phenotype: Thick cerebral cortex (HP:0006891)
Associated disease: Wrinkled skin syndrome; Wrinkly skin syndrome; WSS (ORPHA:2834)
Gene: ATP6V0A2
Phenotype: Thick cerebral cortex (HP:0006891)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V0A2
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATP6V0A2
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ATP6V0A2
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ATP6V0A2
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATP6V0A2
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ATP6V0A2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATP6V0A2
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Wrinkled skin syndrome; Wrinkly skin syndrome; WSS (ORPHA:2834)
Gene: ATP6V0A2
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: WRINKLY SKIN SYNDROME (OMIM:278250)
Gene: ATP6V0A2
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATP6V0A2
Phenotype: Microdontia (HP:0000691)
Associated disease: WRINKLY SKIN SYNDROME (OMIM:278250)
Gene: ATP6V0A2
Phenotype: Hypoplasia of the musculature (HP:0009004)
Associated disease: WRINKLY SKIN SYNDROME (OMIM:278250)
Gene: ATP6V0A2
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ATP6V0A2
Phenotype: Carious teeth (HP:0000670)
Associated disease: Wrinkled skin syndrome; Wrinkly skin syndrome; WSS (ORPHA:2834)
Gene: ATP6V0A2
Phenotype: Carious teeth (HP:0000670)
Associated disease: WRINKLY SKIN SYNDROME (OMIM:278250)
Gene: ATP6V0A2
Phenotype: Carious teeth (HP:0000670)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA (OMIM:219200)
Gene: ATP6V0A2
Phenotype: Carious teeth (HP:0000670)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V0A2
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATP6V0A2
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATP6V0A2
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATP6V0A2
Phenotype: Short stature (HP:0004322)
Associated disease: WRINKLY SKIN SYNDROME (OMIM:278250)
Gene: ATP6V0A2
Phenotype: Short stature (HP:0004322)
Associated disease: Wrinkled skin syndrome; Wrinkly skin syndrome; WSS (ORPHA:2834)
Gene: ATP6V0A2
Phenotype: Short stature (HP:0004322)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V0A2
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ATP6V0A2
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ATP6V0A2
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATP6V0A2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATP6V0A2
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATP6V0A2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATP6V0A2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Wrinkled skin syndrome; Wrinkly skin syndrome; WSS (ORPHA:2834)
Gene: ATP6V0A2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: WRINKLY SKIN SYNDROME (OMIM:278250)
Gene: ATP6V0A2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATP6V0A2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATP6V0A2
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATP6V0A2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: WRINKLY SKIN SYNDROME (OMIM:278250)
Gene: ATP6V0A2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Wrinkled skin syndrome; Wrinkly skin syndrome; WSS (ORPHA:2834)
Gene: ATP6V0A2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATP6V0A2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V0A2
Phenotype: Dementia (HP:0000726)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V0A2
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATP6V0A2
Phenotype: Lipodystrophy (HP:0009125)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA (OMIM:219200)
Gene: ATP6V0A2
Phenotype: Lipodystrophy (HP:0009125)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V0A2
Phenotype: Lipodystrophy (HP:0009125)
Associated disease: Wrinkled skin syndrome; Wrinkly skin syndrome; WSS (ORPHA:2834)
Gene: ATP6V0A2
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATP6V0A2
Phenotype: Slender long bone (HP:0003100)
Associated disease: WRINKLY SKIN SYNDROME (OMIM:278250)
Gene: ATP6V0A2
Phenotype: Abnormal cheek morphology (HP:0004426)
Associated disease: Wrinkled skin syndrome; Wrinkly skin syndrome; WSS (ORPHA:2834)
Gene: ATP6V0A2
Phenotype: Scaphocephaly (HP:0030799)
Associated disease: WRINKLY SKIN SYNDROME (OMIM:278250)
Gene: ATP6V0A2
Phenotype: Decreased muscle mass (HP:0003199)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V0A2
Phenotype: Decreased muscle mass (HP:0003199)
Associated disease: Wrinkled skin syndrome; Wrinkly skin syndrome; WSS (ORPHA:2834)
Gene: ATP6V0A2
Phenotype: Short nose (HP:0003196)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA (OMIM:219200)
Gene: ATP6V0A2
Phenotype: Short nose (HP:0003196)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V0A2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATP6V0A2
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATP6V0A2
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATP6V0A2
Phenotype: Abnormal isoelectric focusing of serum transferrin (HP:0003160)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V0A2
Phenotype: Abnormal isoelectric focusing of serum transferrin (HP:0003160)
Associated disease: Wrinkled skin syndrome; Wrinkly skin syndrome; WSS (ORPHA:2834)
Gene: ATP6V0A2
Phenotype: Abnormal isoelectric focusing of serum transferrin (HP:0003160)
Associated disease: WRINKLY SKIN SYNDROME (OMIM:278250)
Gene: ATP6V0A2
Phenotype: Abnormal isoelectric focusing of serum transferrin (HP:0003160)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA (OMIM:219200)
Gene: ATP6V0A2
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ATP6V0A2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ATP6V0A2
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATP6V0A2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ATP6V0A2
Phenotype: Cutis laxa (HP:0000973)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA (OMIM:219200)
Gene: ATP6V0A2
Phenotype: Cutis laxa (HP:0000973)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V0A2
Phenotype: Cutis laxa (HP:0000973)
Associated disease: Wrinkled skin syndrome; Wrinkly skin syndrome; WSS (ORPHA:2834)
Gene: ATP6V0A2
Phenotype: Muscular ventricular septal defect (HP:0011623)
Associated disease: WRINKLY SKIN SYNDROME (OMIM:278250)
Gene: ATP6V0A2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATP6V0A2
Phenotype: Osteopenia (HP:0000938)
Associated disease: Wrinkled skin syndrome; Wrinkly skin syndrome; WSS (ORPHA:2834)
Gene: ATP6V0A2
Phenotype: Osteopenia (HP:0000938)
Associated disease: WRINKLY SKIN SYNDROME (OMIM:278250)
Gene: ATP6V0A2
Phenotype: Sparse hair (HP:0008070)
Associated disease: Wrinkled skin syndrome; Wrinkly skin syndrome; WSS (ORPHA:2834)
Gene: ATP6V0A2
Phenotype: Sparse hair (HP:0008070)
Associated disease: WRINKLY SKIN SYNDROME (OMIM:278250)
Gene: ATP6V0A2
Phenotype: Sparse hair (HP:0008070)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V0A2
Phenotype: Epicanthus (HP:0000286)
Associated disease: WRINKLY SKIN SYNDROME (OMIM:278250)
Gene: ATP6V0A2
Phenotype: Epicanthus (HP:0000286)
Associated disease: Wrinkled skin syndrome; Wrinkly skin syndrome; WSS (ORPHA:2834)
Gene: ATP6V0A2
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATP6V0A2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATP6V0A2
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: WRINKLY SKIN SYNDROME (OMIM:278250)
Gene: ATP6V0A2
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA (OMIM:219200)
Gene: ATP6V0A2
Phenotype: Delayed cranial suture closure (HP:0000270)
Associated disease: WRINKLY SKIN SYNDROME (OMIM:278250)
Gene: ATP6V0A2
Phenotype: Malar flattening (HP:0000272)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA (OMIM:219200)
Gene: ATP6V0A2
Phenotype: Malar flattening (HP:0000272)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V0A2
Phenotype: Coxa vara (HP:0002812)
Associated disease: Wrinkled skin syndrome; Wrinkly skin syndrome; WSS (ORPHA:2834)
Gene: ATP6V0A2
Phenotype: Coxa vara (HP:0002812)
Associated disease: WRINKLY SKIN SYNDROME (OMIM:278250)
Gene: ATP6V0A2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATP6V0A2
Phenotype: Kyphosis (HP:0002808)
Associated disease: WRINKLY SKIN SYNDROME (OMIM:278250)
Gene: ATP6V0A2
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V0A2
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: Wrinkled skin syndrome; Wrinkly skin syndrome; WSS (ORPHA:2834)
Gene: ATP6V0A2
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: WRINKLY SKIN SYNDROME (OMIM:278250)
Gene: ATP6V0A2
Phenotype: Microcephaly (HP:0000252)
Associated disease: WRINKLY SKIN SYNDROME (OMIM:278250)
Gene: ATP6V0A2
Phenotype: Microcephaly (HP:0000252)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA (OMIM:219200)
Gene: ATP6V0A2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATP6V0A2
Phenotype: Redundant skin (HP:0001582)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA (OMIM:219200)
Gene: ATP6V0A2
Phenotype: Redundant skin (HP:0001582)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V0A2
Phenotype: Redundant skin (HP:0001582)
Associated disease: WRINKLY SKIN SYNDROME (OMIM:278250)
Gene: ATP6V0A2
Phenotype: High palate (HP:0000218)
Associated disease: WRINKLY SKIN SYNDROME (OMIM:278250)
Gene: ATP6V0A2
Phenotype: High palate (HP:0000218)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA (OMIM:219200)
Gene: ATP6V0A2
Phenotype: High palate (HP:0000218)
Associated disease: Wrinkled skin syndrome; Wrinkly skin syndrome; WSS (ORPHA:2834)
Gene: ATP6V0A2
Phenotype: High palate (HP:0000218)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V0A2
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ATP6V0A2
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Wrinkled skin syndrome; Wrinkly skin syndrome; WSS (ORPHA:2834)
Gene: ATP6V0A2
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: WRINKLY SKIN SYNDROME (OMIM:278250)
Gene: ATP6V0A2
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ATP6V0A2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: WRINKLY SKIN SYNDROME (OMIM:278250)
Gene: ATP6V0A2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA (OMIM:219200)
Gene: ATP6V0A2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Wrinkled skin syndrome; Wrinkly skin syndrome; WSS (ORPHA:2834)
Gene: ATP6V0A2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V0A2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Wrinkled skin syndrome; Wrinkly skin syndrome; WSS (ORPHA:2834)
Gene: ATP6V0A2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: WRINKLY SKIN SYNDROME (OMIM:278250)
Gene: ATP6V0A2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATP6V0A2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA (OMIM:219200)
Gene: ATP6V0A2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V0A2
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ATP6V0A2
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATP6V0A2
Phenotype: Flat face (HP:0012368)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA (OMIM:219200)
Gene: ATP6V0A2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATP6V0A2
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: Wrinkled skin syndrome; Wrinkly skin syndrome; WSS (ORPHA:2834)
Gene: ATP6V0A2
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: WRINKLY SKIN SYNDROME (OMIM:278250)
Gene: ATP6V0A2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ATP6V0A2
Phenotype: High myopia (HP:0011003)
Associated disease: Wrinkled skin syndrome; Wrinkly skin syndrome; WSS (ORPHA:2834)
Gene: ATP6V0A2
Phenotype: High myopia (HP:0011003)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V0A2
Phenotype: Low-set ears (HP:0000369)
Associated disease: WRINKLY SKIN SYNDROME (OMIM:278250)
Gene: ATP6V0A2
Phenotype: Low-set ears (HP:0000369)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA (OMIM:219200)
Gene: ATP6V0A2
Phenotype: Low-set ears (HP:0000369)
Associated disease: Wrinkled skin syndrome; Wrinkly skin syndrome; WSS (ORPHA:2834)
Gene: ATP6V0A2
Phenotype: Low-set ears (HP:0000369)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V0A2
Phenotype: Long philtrum (HP:0000343)
Associated disease: Wrinkled skin syndrome; Wrinkly skin syndrome; WSS (ORPHA:2834)
Gene: ATP6V0A2
Phenotype: Long philtrum (HP:0000343)
Associated disease: WRINKLY SKIN SYNDROME (OMIM:278250)
Gene: ATP6V0A2
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATP6V0A2
Phenotype: Long philtrum (HP:0000343)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA (OMIM:219200)
Gene: ATP6V0A2
Phenotype: Long philtrum (HP:0000343)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V0A2
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ATP6V0A2
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: Wrinkled skin syndrome; Wrinkly skin syndrome; WSS (ORPHA:2834)
Gene: ATP6V0A2
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: WRINKLY SKIN SYNDROME (OMIM:278250)
Gene: ATP6V0A2
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V0A2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: WRINKLY SKIN SYNDROME (OMIM:278250)
Gene: ATP6V0A2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Wrinkled skin syndrome; Wrinkly skin syndrome; WSS (ORPHA:2834)
Gene: ATP6V0A2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V0A2
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATP6V0A2
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATP6V0A2
Phenotype: Microretrognathia (HP:0000308)
Associated disease: WRINKLY SKIN SYNDROME (OMIM:278250)
Gene: ATP6V0A2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ATP6V0A2
Phenotype: Progeroid facial appearance (HP:0005328)
Associated disease: WRINKLY SKIN SYNDROME (OMIM:278250)
Gene: ATP6V0A2
Phenotype: Prominent nasolabial fold (HP:0005272)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V0A2
Phenotype: Prominent nasolabial fold (HP:0005272)
Associated disease: Wrinkled skin syndrome; Wrinkly skin syndrome; WSS (ORPHA:2834)
Gene: ATP6V0A2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATP6V0A2
Phenotype: Strabismus (HP:0000486)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA (OMIM:219200)
Gene: ATP6V0A2
Phenotype: Strabismus (HP:0000486)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V0A2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Wrinkled skin syndrome; Wrinkly skin syndrome; WSS (ORPHA:2834)
Gene: ATP6V0A2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: WRINKLY SKIN SYNDROME (OMIM:278250)
Gene: ATP6V0A2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA (OMIM:219200)
Gene: ATP6V0A2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V0A2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA (OMIM:219200)
Gene: ATP6V0A2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V0A2
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: Wrinkled skin syndrome; Wrinkly skin syndrome; WSS (ORPHA:2834)
Gene: ATP6V0A2
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V0A2
Phenotype: Premature rupture of membranes (HP:0001788)
Associated disease: Wrinkled skin syndrome; Wrinkly skin syndrome; WSS (ORPHA:2834)
Gene: ATP6V0A2
Phenotype: Premature rupture of membranes (HP:0001788)
Associated disease: WRINKLY SKIN SYNDROME (OMIM:278250)
Gene: ATP6V0A2
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATP6V0A2
Phenotype: Short nail (HP:0001799)
Associated disease: WRINKLY SKIN SYNDROME (OMIM:278250)
Gene: ATP6V0A2
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATP6V0A2
Phenotype: Pes planus (HP:0001763)
Associated disease: Wrinkled skin syndrome; Wrinkly skin syndrome; WSS (ORPHA:2834)
Gene: ATP6V0A2
Phenotype: Pes planus (HP:0001763)
Associated disease: WRINKLY SKIN SYNDROME (OMIM:278250)
Gene: ATP6V0A2
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATP6V0A2
Phenotype: Pes planus (HP:0001763)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA (OMIM:219200)
Gene: ATP6V0A2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: WRINKLY SKIN SYNDROME (OMIM:278250)