TaoMedAI/RareMedData huggingface dataset:
Gene: STS
Phenotype: Abnormality of the abdominal wall (HP:0004298)
Associated disease: Recessive X-linked ichthyosis with extracutaneous manifestations; Syndromic RXLI; Syndromic recessive X-linked ichthyosis (ORPHA:281090)
Gene: STS
Phenotype: Short stature (HP:0004322)
Associated disease: Recessive X-linked ichthyosis with extracutaneous manifestations; Syndromic RXLI; Syndromic recessive X-linked ichthyosis (ORPHA:281090)
Gene: STS
Phenotype: Autism (HP:0000717)
Associated disease: Recessive X-linked ichthyosis with extracutaneous manifestations; Syndromic RXLI; Syndromic recessive X-linked ichthyosis (ORPHA:281090)
Gene: STS
Phenotype: Autism (HP:0000717)
Associated disease: X-linked ichthyosis; RXLI; XLI; Recessive X-linked ichthyosis; Steroid sulfatase deficiency (ORPHA:461)
Gene: STS
Phenotype: Childhood onset (HP:0011463)
Associated disease: ICHTHYOSIS, X-LINKED (OMIM:308100)
Gene: STS
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: ICHTHYOSIS, X-LINKED (OMIM:308100)
Gene: STS
Phenotype: Dry skin (HP:0000958)
Associated disease: X-linked ichthyosis; RXLI; XLI; Recessive X-linked ichthyosis; Steroid sulfatase deficiency (ORPHA:461)
Gene: STS
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: Recessive X-linked ichthyosis with extracutaneous manifestations; Syndromic RXLI; Syndromic recessive X-linked ichthyosis (ORPHA:281090)
Gene: STS
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: ICHTHYOSIS, X-LINKED (OMIM:308100)
Gene: STS
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: X-linked ichthyosis; RXLI; XLI; Recessive X-linked ichthyosis; Steroid sulfatase deficiency (ORPHA:461)
Gene: STS
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Recessive X-linked ichthyosis with extracutaneous manifestations; Syndromic RXLI; Syndromic recessive X-linked ichthyosis (ORPHA:281090)
Gene: STS
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: X-linked ichthyosis; RXLI; XLI; Recessive X-linked ichthyosis; Steroid sulfatase deficiency (ORPHA:461)
Gene: STS
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Recessive X-linked ichthyosis with extracutaneous manifestations; Syndromic RXLI; Syndromic recessive X-linked ichthyosis (ORPHA:281090)
Gene: STS
Phenotype: Ichthyosis (HP:0008064)
Associated disease: ICHTHYOSIS, X-LINKED (OMIM:308100)
Gene: STS
Phenotype: Ichthyosis (HP:0008064)
Associated disease: X-linked ichthyosis; RXLI; XLI; Recessive X-linked ichthyosis; Steroid sulfatase deficiency (ORPHA:461)
Gene: STS
Phenotype: Opacification of the corneal stroma (HP:0007759)
Associated disease: X-linked ichthyosis; RXLI; XLI; Recessive X-linked ichthyosis; Steroid sulfatase deficiency (ORPHA:461)
Gene: STS
Phenotype: Opacification of the corneal stroma (HP:0007759)
Associated disease: ICHTHYOSIS, X-LINKED (OMIM:308100)
Gene: STS
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Recessive X-linked ichthyosis with extracutaneous manifestations; Syndromic RXLI; Syndromic recessive X-linked ichthyosis (ORPHA:281090)
Gene: ARSL
Phenotype: Thick nasal alae (HP:0009928)
Associated disease: Brachytelephalangic chondrodysplasia punctata (ORPHA:79345)
Gene: ARSL
Phenotype: Increased nuchal translucency (HP:0010880)
Associated disease: Brachytelephalangic chondrodysplasia punctata (ORPHA:79345)
Gene: ARSL
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: Brachytelephalangic chondrodysplasia punctata (ORPHA:79345)
Gene: ARSL
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE (OMIM:302950)
Gene: ARSL
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARSL
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARSL
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSL
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSL
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE (OMIM:302950)
Gene: ARSL
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Brachytelephalangic chondrodysplasia punctata (ORPHA:79345)
Gene: ARSL
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSL
Phenotype: Laryngeal calcification (HP:0008754)
Associated disease: Brachytelephalangic chondrodysplasia punctata (ORPHA:79345)
Gene: ARSL
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARSL
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSL
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARSL
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Brachytelephalangic chondrodysplasia punctata (ORPHA:79345)
Gene: ARSL
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSL
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSL
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARSL
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSL
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSL
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARSL
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARSL
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSL
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: Brachytelephalangic chondrodysplasia punctata (ORPHA:79345)
Gene: ARSL
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARSL
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSL
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSL
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSL
Phenotype: Hypogonadism (HP:0000135)
Associated disease: CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE (OMIM:302950)
Gene: ARSL
Phenotype: Abnormal bronchus morphology (HP:0025426)
Associated disease: Brachytelephalangic chondrodysplasia punctata (ORPHA:79345)
Gene: ARSL
Phenotype: Tracheal stenosis (HP:0002777)
Associated disease: Brachytelephalangic chondrodysplasia punctata (ORPHA:79345)
Gene: ARSL
Phenotype: Tachypnea (HP:0002789)
Associated disease: Brachytelephalangic chondrodysplasia punctata (ORPHA:79345)
Gene: ARSL
Phenotype: Tracheal calcification (HP:0002787)
Associated disease: Brachytelephalangic chondrodysplasia punctata (ORPHA:79345)
Gene: ARSL
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE (OMIM:302950)
Gene: ARSL
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Brachytelephalangic chondrodysplasia punctata (ORPHA:79345)
Gene: ARSL
Phenotype: Calcaneal epiphyseal stippling (HP:0004695)
Associated disease: Brachytelephalangic chondrodysplasia punctata (ORPHA:79345)
Gene: ARSL
Phenotype: Short columella (HP:0002000)
Associated disease: Brachytelephalangic chondrodysplasia punctata (ORPHA:79345)
Gene: ARSL
Phenotype: C1-C2 subluxation (HP:0003320)
Associated disease: Brachytelephalangic chondrodysplasia punctata (ORPHA:79345)
Gene: ARSL
Phenotype: Butterfly vertebrae (HP:0003316)
Associated disease: Brachytelephalangic chondrodysplasia punctata (ORPHA:79345)
Gene: ARSL
Phenotype: Asthma (HP:0002099)
Associated disease: Brachytelephalangic chondrodysplasia punctata (ORPHA:79345)
Gene: ARSL
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARSL
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSL
Phenotype: Atlantoaxial instability (HP:0003467)
Associated disease: Brachytelephalangic chondrodysplasia punctata (ORPHA:79345)
Gene: ARSL
Phenotype: Coronal cleft vertebrae (HP:0003417)
Associated disease: Brachytelephalangic chondrodysplasia punctata (ORPHA:79345)
Gene: ARSL
Phenotype: Spinal canal stenosis (HP:0003416)
Associated disease: Brachytelephalangic chondrodysplasia punctata (ORPHA:79345)
Gene: ARSL
Phenotype: Respiratory failure requiring assisted ventilation (HP:0004887)
Associated disease: Brachytelephalangic chondrodysplasia punctata (ORPHA:79345)
Gene: ARSL
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Brachytelephalangic chondrodysplasia punctata (ORPHA:79345)
Gene: ARSL
Phenotype: Vertebral hypoplasia (HP:0008417)
Associated disease: Brachytelephalangic chondrodysplasia punctata (ORPHA:79345)
Gene: ARSL
Phenotype: Hypoplasia of the anterior nasal spine (HP:0010666)
Associated disease: Brachytelephalangic chondrodysplasia punctata (ORPHA:79345)
Gene: ARSL
Phenotype: Epiphyseal stippling (HP:0010655)
Associated disease: CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE (OMIM:302950)
Gene: ARSL
Phenotype: Epiphyseal stippling (HP:0010655)
Associated disease: Brachytelephalangic chondrodysplasia punctata (ORPHA:79345)
Gene: ARSL
Phenotype: Cervical spine instability (HP:0010646)
Associated disease: Brachytelephalangic chondrodysplasia punctata (ORPHA:79345)
Gene: ARSL
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Brachytelephalangic chondrodysplasia punctata (ORPHA:79345)
Gene: ARSL
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSL
Phenotype: Proportionate short stature (HP:0003508)
Associated disease: Brachytelephalangic chondrodysplasia punctata (ORPHA:79345)
Gene: ARSL
Phenotype: Cervical cord compression (HP:0002341)
Associated disease: Brachytelephalangic chondrodysplasia punctata (ORPHA:79345)
Gene: ARSL
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARSL
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSL
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSL
Phenotype: Cervical vertebral dysplasia (HP:0008469)
Associated disease: Brachytelephalangic chondrodysplasia punctata (ORPHA:79345)
Gene: ARSL
Phenotype: Cervical spinal canal stenosis (HP:0008445)
Associated disease: Brachytelephalangic chondrodysplasia punctata (ORPHA:79345)
Gene: ARSL
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARSL
Phenotype: Hypoplastic cervical vertebrae (HP:0008434)
Associated disease: Brachytelephalangic chondrodysplasia punctata (ORPHA:79345)
Gene: ARSL
Phenotype: Punctate vertebral calcifications (HP:0008420)
Associated disease: Brachytelephalangic chondrodysplasia punctata (ORPHA:79345)
Gene: ARSL
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARSL
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARSL
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSL
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARSL
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARSL
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSL
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: Brachytelephalangic chondrodysplasia punctata (ORPHA:79345)
Gene: ARSL
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARSL
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSL
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSL
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARSL
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSL
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSL
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSL
Phenotype: Short stature (HP:0004322)
Associated disease: CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE (OMIM:302950)
Gene: ARSL
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARSL
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARSL
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSL
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSL
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSL
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSL
Phenotype: Abnormal ossification involving the femoral head and neck (HP:0009107)
Associated disease: Brachytelephalangic chondrodysplasia punctata (ORPHA:79345)
Gene: ARSL
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSL
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSL
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSL
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSL
Phenotype: Epiphyseal stippling of toe phalanges (HP:0010171)
Associated disease: Brachytelephalangic chondrodysplasia punctata (ORPHA:79345)
Gene: ARSL
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSL
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSL
Phenotype: Pulmonary artery stenosis (HP:0004415)
Associated disease: Brachytelephalangic chondrodysplasia punctata (ORPHA:79345)
Gene: ARSL
Phenotype: Short nose (HP:0003196)
Associated disease: Brachytelephalangic chondrodysplasia punctata (ORPHA:79345)
Gene: ARSL
Phenotype: Short nose (HP:0003196)
Associated disease: CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE (OMIM:302950)
Gene: ARSL
Phenotype: Abnormality of the costochondral junction (HP:0000919)
Associated disease: Brachytelephalangic chondrodysplasia punctata (ORPHA:79345)
Gene: ARSL
Phenotype: Abnormality of the vertebral column (HP:0000925)
Associated disease: CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE (OMIM:302950)
Gene: ARSL
Phenotype: Abnormality of the vertebral column (HP:0000925)
Associated disease: Brachytelephalangic chondrodysplasia punctata (ORPHA:79345)
Gene: ARSL
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSL
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSL
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSL
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARSL
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARSL
Phenotype: Stippling of the epiphyses of the distal phalanges of the hand (HP:0010255)
Associated disease: Brachytelephalangic chondrodysplasia punctata (ORPHA:79345)
Gene: ARSL
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSL
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARSL
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSL
Phenotype: Ichthyosis (HP:0008064)
Associated disease: CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE (OMIM:302950)
Gene: ARSL
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSL
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSL
Phenotype: Optic disc hypoplasia (HP:0007766)
Associated disease: Brachytelephalangic chondrodysplasia punctata (ORPHA:79345)
Gene: ARSL
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSL
Phenotype: Microcephaly (HP:0000252)
Associated disease: CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE (OMIM:302950)
Gene: ARSL
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSL
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARSL
Phenotype: Central apnea (HP:0002871)
Associated disease: Brachytelephalangic chondrodysplasia punctata (ORPHA:79345)
Gene: ARSL
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARSL
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSL
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARSL
Phenotype: Abnormal circulating enzyme concentration or activity (HP:0012379)
Associated disease: Brachytelephalangic chondrodysplasia punctata (ORPHA:79345)
Gene: ARSL
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSL
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSL
Phenotype: Cervical kyphosis (HP:0002947)
Associated disease: Brachytelephalangic chondrodysplasia punctata (ORPHA:79345)
Gene: ARSL
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE (OMIM:302950)
Gene: ARSL
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARSL
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSL
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARSL
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Brachytelephalangic chondrodysplasia punctata (ORPHA:79345)
Gene: ARSL
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSL
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: Brachytelephalangic chondrodysplasia punctata (ORPHA:79345)
Gene: ARSL
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Brachytelephalangic chondrodysplasia punctata (ORPHA:79345)
Gene: ARSL
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSL
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Brachytelephalangic chondrodysplasia punctata (ORPHA:79345)
Gene: ARSL
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARSL
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE (OMIM:302950)
Gene: ARSL
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSL
Phenotype: Anosmia (HP:0000458)
Associated disease: CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE (OMIM:302950)
Gene: ARSL
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: Brachytelephalangic chondrodysplasia punctata (ORPHA:79345)
Gene: ARSL
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Brachytelephalangic chondrodysplasia punctata (ORPHA:79345)
Gene: ARSL
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSL
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSL
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSL
Phenotype: Short nasal septum (HP:0000420)
Associated disease: CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE (OMIM:302950)
Gene: ARSL
Phenotype: Nasal congestion (HP:0001742)
Associated disease: Brachytelephalangic chondrodysplasia punctata (ORPHA:79345)
Gene: ARSL
Phenotype: Mixed hearing impairment (HP:0000410)
Associated disease: Brachytelephalangic chondrodysplasia punctata (ORPHA:79345)
Gene: ARSL
Phenotype: Abnormal hyoid bone morphology (HP:3000052)
Associated disease: Brachytelephalangic chondrodysplasia punctata (ORPHA:79345)
Gene: ARSL
Phenotype: Cataract (HP:0000518)
Associated disease: Brachytelephalangic chondrodysplasia punctata (ORPHA:79345)
Gene: ARSL
Phenotype: Cataract (HP:0000518)
Associated disease: CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE (OMIM:302950)
Gene: ARSL
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSL
Phenotype: Short distal phalanx of toe (HP:0001857)
Associated disease: Brachytelephalangic chondrodysplasia punctata (ORPHA:79345)
Gene: ARSL
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARSL
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSL
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSL
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSL
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARVCF
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: ARVCF
Phenotype: Hand polydactyly (HP:0001161)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: ARVCF
Phenotype: Retinal arteriolar tortuosity (HP:0001136)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: ARVCF
Phenotype: Meningocele (HP:0002435)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: ARVCF
Phenotype: Bipolar affective disorder (HP:0007302)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)