TaoMedAI/RareMedData huggingface dataset:
Gene: ABCC6
Phenotype: Mitral stenosis (HP:0001718)
Associated disease: PSEUDOXANTHOMA ELASTICUM (OMIM:264800)
Gene: ABCC6
Phenotype: Ventricular hypertrophy (HP:0001714)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ABCC6
Phenotype: Premature occlusive vascular stenosis (HP:0005297)
Associated disease: PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE (OMIM:177850)
Gene: ABCC6
Phenotype: Medial calcification of medium-sized arteries (HP:0012457)
Associated disease: PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE (OMIM:177850)
Gene: ABCC6
Phenotype: Medial calcification of medium-sized arteries (HP:0012457)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ABCC6
Phenotype: Retinopathy (HP:0000488)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ABCC6
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ABCC6
Phenotype: Thickened nuchal skin fold (HP:0000474)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ABCC6
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: PSEUDOXANTHOMA ELASTICUM (OMIM:264800)
Gene: ABCC6
Phenotype: Medullary nephrocalcinosis (HP:0012408)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ABCC6
Phenotype: Cortical nephrocalcinosis (HP:0012409)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ABCC6
Phenotype: Mixed hearing impairment (HP:0000410)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ABCC6
Phenotype: Calcification of falx cerebri (HP:0005462)
Associated disease: PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE (OMIM:177850)
Gene: ABCC6
Phenotype: Metamorphopsia (HP:0012508)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ABCC6
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ABCC6
Phenotype: Visual impairment (HP:0000505)
Associated disease: PSEUDOXANTHOMA ELASTICUM (OMIM:264800)
Gene: ABCC6
Phenotype: Visual impairment (HP:0000505)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ABCC6
Phenotype: Visual impairment (HP:0000505)
Associated disease: PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE (OMIM:177850)
Gene: ABCC6
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ABCC6
Phenotype: Blue sclerae (HP:0000592)
Associated disease: PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE (OMIM:177850)
Gene: ABCC6
Phenotype: Blue sclerae (HP:0000592)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ABCC6
Phenotype: Retinal hemorrhage (HP:0000573)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ABCC6
Phenotype: Retinal hemorrhage (HP:0000573)
Associated disease: PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE (OMIM:177850)
Gene: ABCC6
Phenotype: Retinal hemorrhage (HP:0000573)
Associated disease: PSEUDOXANTHOMA ELASTICUM (OMIM:264800)
Gene: ABCC6
Phenotype: Retinal hemorrhage (HP:0000573)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ABCC6
Phenotype: Abnormality of thrombocytes (HP:0001872)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ABCC6
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ABCC6
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ABCC6
Phenotype: Myopia (HP:0000545)
Associated disease: PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE (OMIM:177850)
Gene: ARCN1
Phenotype: Large hands (HP:0001176)
Associated disease: SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY (OMIM:617164)
Gene: ARCN1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARCN1
Phenotype: Skeletal muscle hypertrophy (HP:0003712)
Associated disease: SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY (OMIM:617164)
Gene: ARCN1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARCN1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY (OMIM:617164)
Gene: ARCN1
Phenotype: Motor delay (HP:0001270)
Associated disease: SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY (OMIM:617164)
Gene: ARCN1
Phenotype: Seizure (HP:0001250)
Associated disease: SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY (OMIM:617164)
Gene: ARCN1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARCN1
Phenotype: Ataxia (HP:0001251)
Associated disease: SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY (OMIM:617164)
Gene: ARCN1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY (OMIM:617164)
Gene: ARCN1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARCN1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY (OMIM:617164)
Gene: ARCN1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARCN1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARCN1
Phenotype: Small scrotum (HP:0000046)
Associated disease: SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY (OMIM:617164)
Gene: ARCN1
Phenotype: Micropenis (HP:0000054)
Associated disease: SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY (OMIM:617164)
Gene: ARCN1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY (OMIM:617164)
Gene: ARCN1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARCN1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARCN1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY (OMIM:617164)
Gene: ARCN1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARCN1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARCN1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARCN1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARCN1
Phenotype: Coxa valga (HP:0002673)
Associated disease: SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY (OMIM:617164)
Gene: ARCN1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARCN1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARCN1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY (OMIM:617164)
Gene: ARCN1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARCN1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARCN1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARCN1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARCN1
Phenotype: Rhizomelia (HP:0008905)
Associated disease: SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY (OMIM:617164)
Gene: ARCN1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARCN1
Phenotype: Cleft palate (HP:0000175)
Associated disease: SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY (OMIM:617164)
Gene: ARCN1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARCN1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY (OMIM:617164)
Gene: ARCN1
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY (OMIM:617164)
Gene: ARCN1
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY (OMIM:617164)
Gene: ARCN1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARCN1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARCN1
Phenotype: Congenital onset (HP:0003577)
Associated disease: SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY (OMIM:617164)
Gene: ARCN1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY (OMIM:617164)
Gene: ARCN1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARCN1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARCN1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARCN1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARCN1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARCN1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARCN1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARCN1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARCN1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARCN1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARCN1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARCN1
Phenotype: Hypotelorism (HP:0000601)
Associated disease: SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY (OMIM:617164)
Gene: ARCN1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARCN1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARCN1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARCN1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARCN1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARCN1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARCN1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARCN1
Phenotype: Decreased body weight (HP:0004325)
Associated disease: SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY (OMIM:617164)
Gene: ARCN1
Phenotype: Short stature (HP:0004322)
Associated disease: SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY (OMIM:617164)
Gene: ARCN1
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY (OMIM:617164)
Gene: ARCN1
Phenotype: Penoscrotal hypospadias (HP:0000808)
Associated disease: SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY (OMIM:617164)
Gene: ARCN1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARCN1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARCN1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARCN1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARCN1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY (OMIM:617164)
Gene: ARCN1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARCN1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARCN1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARCN1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARCN1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARCN1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARCN1
Phenotype: Autism (HP:0000717)
Associated disease: SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY (OMIM:617164)
Gene: ARCN1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARCN1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARCN1
Phenotype: Scaphocephaly (HP:0030799)
Associated disease: SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY (OMIM:617164)
Gene: ARCN1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARCN1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARCN1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARCN1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARCN1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARCN1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARCN1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARCN1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARCN1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARCN1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARCN1
Phenotype: Retrognathia (HP:0000278)
Associated disease: SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY (OMIM:617164)
Gene: ARCN1
Phenotype: Broad femoral neck (HP:0006429)
Associated disease: SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY (OMIM:617164)
Gene: ARCN1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARCN1
Phenotype: Microcephaly (HP:0000252)
Associated disease: SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY (OMIM:617164)
Gene: ARCN1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARCN1
Phenotype: High palate (HP:0000218)
Associated disease: SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY (OMIM:617164)
Gene: ARCN1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARCN1
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY (OMIM:617164)
Gene: ARCN1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARCN1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY (OMIM:617164)
Gene: ARCN1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY (OMIM:617164)
Gene: ARCN1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARCN1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARCN1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARCN1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARCN1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARCN1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARCN1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARCN1
Phenotype: Micrognathia (HP:0000347)
Associated disease: SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY (OMIM:617164)
Gene: ARCN1
Phenotype: Bowing of the legs (HP:0002979)
Associated disease: SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY (OMIM:617164)
Gene: ARCN1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARCN1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY (OMIM:617164)
Gene: ARCN1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARCN1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARCN1
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY (OMIM:617164)
Gene: ARCN1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARCN1
Phenotype: Astigmatism (HP:0000483)
Associated disease: SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY (OMIM:617164)
Gene: ARCN1
Phenotype: Strabismus (HP:0000486)
Associated disease: SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY (OMIM:617164)
Gene: ARCN1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY (OMIM:617164)
Gene: ARCN1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARCN1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARCN1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARCN1
Phenotype: Cataract (HP:0000518)
Associated disease: SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY (OMIM:617164)
Gene: ARCN1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARCN1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARCN1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARCN1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARCN1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY (OMIM:617164)
Gene: ARCN1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARCN1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARCN1
Phenotype: Myopia (HP:0000545)
Associated disease: SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY (OMIM:617164)
Gene: ARF1
Phenotype: Seizure (HP:0001250)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 8 (OMIM:618185)
Gene: ARF1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 8 (OMIM:618185)
Gene: ARF1
Phenotype: Spasticity (HP:0001257)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 8 (OMIM:618185)
Gene: ARF1
Phenotype: Periventricular nodular heterotopia (HP:0032388)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 8 (OMIM:618185)
Gene: ARF1
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: ARF1
Phenotype: Shoulder dislocation (HP:0003834)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: ARF1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: ARF1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 8 (OMIM:618185)
Gene: ARF1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: ARF1
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: ARF1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: ARF1
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 8 (OMIM:618185)
Gene: ARF1
Phenotype: Hernia (HP:0100790)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: ARF1
Phenotype: Periventricular heterotopia (HP:0007165)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)