TaoMedAI/RareMedData huggingface dataset:
Gene: ARSA
Phenotype: Vegetative state (HP:0031358)
Associated disease: MLD, late infantile form; Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form (ORPHA:309256)
Gene: ARSA
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: MLD, late infantile form; Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form (ORPHA:309256)
Gene: ARSA
Phenotype: Peripheral demyelination (HP:0011096)
Associated disease: METACHROMATIC LEUKODYSTROPHY (OMIM:250100)
Gene: ARSA
Phenotype: Increased CSF protein concentration (HP:0002922)
Associated disease: MLD, late infantile form; Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form (ORPHA:309256)
Gene: ARSA
Phenotype: Increased CSF protein concentration (HP:0002922)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: ARSA
Phenotype: Increased CSF protein concentration (HP:0002922)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)
Gene: ARSA
Phenotype: Increased CSF protein concentration (HP:0002922)
Associated disease: METACHROMATIC LEUKODYSTROPHY (OMIM:250100)
Gene: ARSA
Phenotype: Abnormal social behavior (HP:0012433)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: ARSA
Phenotype: Abnormal social behavior (HP:0012433)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)
Gene: ARSA
Phenotype: Abnormal social behavior (HP:0012433)
Associated disease: MLD, late infantile form; Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form (ORPHA:309256)
Gene: ARSB
Phenotype: Split hand (HP:0001171)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VI (OMIM:253200)
Gene: ARSB
Phenotype: Avascular necrosis (HP:0010885)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VI (OMIM:253200)
Gene: ARSB
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARSB
Phenotype: Reduced leukocyte arylsulfatase B activity (HP:0034861)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VI (OMIM:253200)
Gene: ARSB
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARSB
Phenotype: Seizure (HP:0001250)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VI (OMIM:253200)
Gene: ARSB
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSB
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VI (OMIM:253200)
Gene: ARSB
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSB
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSB
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARSB
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VI (OMIM:253200)
Gene: ARSB
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VI (OMIM:253200)
Gene: ARSB
Phenotype: Joint stiffness (HP:0001387)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VI (OMIM:253200)
Gene: ARSB
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSB
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VI (OMIM:253200)
Gene: ARSB
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARSB
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSB
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSB
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VI (OMIM:253200)
Gene: ARSB
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARSB
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VI (OMIM:253200)
Gene: ARSB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSB
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARSB
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARSB
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSB
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARSB
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSB
Phenotype: Constrictive median neuropathy (HP:0012185)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VI (OMIM:253200)
Gene: ARSB
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSB
Phenotype: Macroglossia (HP:0000158)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VI (OMIM:253200)
Gene: ARSB
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSB
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VI (OMIM:253200)
Gene: ARSB
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VI (OMIM:253200)
Gene: ARSB
Phenotype: Hypoplasia of the odontoid process (HP:0003311)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VI (OMIM:253200)
Gene: ARSB
Phenotype: Ovoid vertebral bodies (HP:0003300)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VI (OMIM:253200)
Gene: ARSB
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VI (OMIM:253200)
Gene: ARSB
Phenotype: Pneumonia (HP:0002090)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VI (OMIM:253200)
Gene: ARSB
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VI (OMIM:253200)
Gene: ARSB
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARSB
Phenotype: Pulmonic regurgitation (HP:0010444)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VI (OMIM:253200)
Gene: ARSB
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSB
Phenotype: Sinus tachycardia (HP:0011703)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VI (OMIM:253200)
Gene: ARSB
Phenotype: Sleep apnea (HP:0010535)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VI (OMIM:253200)
Gene: ARSB
Phenotype: Infantile onset (HP:0003593)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VI (OMIM:253200)
Gene: ARSB
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VI (OMIM:253200)
Gene: ARSB
Phenotype: Anterior wedging of L2 (HP:0011941)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VI (OMIM:253200)
Gene: ARSB
Phenotype: Dermatan sulfate excretion in urine (HP:0008301)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VI (OMIM:253200)
Gene: ARSB
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSB
Phenotype: Disproportionate short-trunk short stature (HP:0003521)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VI (OMIM:253200)
Gene: ARSB
Phenotype: Hirsutism (HP:0001007)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VI (OMIM:253200)
Gene: ARSB
Phenotype: Cervical myelopathy (HP:0002318)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VI (OMIM:253200)
Gene: ARSB
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARSB
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSB
Phenotype: Thickened skin (HP:0001072)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VI (OMIM:253200)
Gene: ARSB
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSB
Phenotype: Anterior wedging of L1 (HP:0008432)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VI (OMIM:253200)
Gene: ARSB
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARSB
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARSB
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARSB
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSB
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARSB
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARSB
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSB
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARSB
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSB
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VI (OMIM:253200)
Gene: ARSB
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSB
Phenotype: Carious teeth (HP:0000670)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VI (OMIM:253200)
Gene: ARSB
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARSB
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSB
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSB
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSB
Phenotype: Short stature (HP:0004322)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VI (OMIM:253200)
Gene: ARSB
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARSB
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARSB
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSB
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VI (OMIM:253200)
Gene: ARSB
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSB
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSB
Phenotype: Metaphyseal irregularity (HP:0003025)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VI (OMIM:253200)
Gene: ARSB
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSB
Phenotype: Caesarean section (HP:0011410)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VI (OMIM:253200)
Gene: ARSB
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSB
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VI (OMIM:253200)
Gene: ARSB
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSB
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSB
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSB
Phenotype: Childhood onset (HP:0011463)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VI (OMIM:253200)
Gene: ARSB
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSB
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSB
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSB
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSB
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSB
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARSB
Phenotype: Prominent sternum (HP:0000884)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VI (OMIM:253200)
Gene: ARSB
Phenotype: Broad ribs (HP:0000885)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VI (OMIM:253200)
Gene: ARSB
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARSB
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSB
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARSB
Phenotype: Hypoplastic acetabulae (HP:0003274)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VI (OMIM:253200)
Gene: ARSB
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSB
Phenotype: Dysostosis multiplex (HP:0000943)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VI (OMIM:253200)
Gene: ARSB
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSB
Phenotype: Coarse facial features (HP:0000280)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VI (OMIM:253200)
Gene: ARSB
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSB
Phenotype: Macrocephaly (HP:0000256)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VI (OMIM:253200)
Gene: ARSB
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VI (OMIM:253200)
Gene: ARSB
Phenotype: Arthralgia (HP:0002829)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VI (OMIM:253200)
Gene: ARSB
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSB
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VI (OMIM:253200)
Gene: ARSB
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSB
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARSB
Phenotype: Genu valgum (HP:0002857)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VI (OMIM:253200)
Gene: ARSB
Phenotype: Flared iliac wing (HP:0002869)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VI (OMIM:253200)
Gene: ARSB
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VI (OMIM:253200)
Gene: ARSB
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARSB
Phenotype: Hypoplastic iliac wing (HP:0002866)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VI (OMIM:253200)
Gene: ARSB
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSB
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARSB
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSB
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VI (OMIM:253200)
Gene: ARSB
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSB
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VI (OMIM:253200)
Gene: ARSB
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARSB
Phenotype: Hearing impairment (HP:0000365)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VI (OMIM:253200)
Gene: ARSB
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSB
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARSB
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSB
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VI (OMIM:253200)
Gene: ARSB
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSB
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VI (OMIM:253200)
Gene: ARSB
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARSB
Phenotype: Corneal opacity (HP:0007957)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VI (OMIM:253200)
Gene: ARSB
Phenotype: Mitral stenosis (HP:0001718)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VI (OMIM:253200)
Gene: ARSB
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VI (OMIM:253200)
Gene: ARSB
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSB
Phenotype: Chronic constipation (HP:0012450)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VI (OMIM:253200)
Gene: ARSB
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSB
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSB
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSB
Phenotype: Splenomegaly (HP:0001744)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VI (OMIM:253200)
Gene: ARSB
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSB
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARSB
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSB
Phenotype: Glaucoma (HP:0000501)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VI (OMIM:253200)
Gene: ARSB
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSB
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARSB
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: STS
Phenotype: Acute leukemia (HP:0002488)
Associated disease: Recessive X-linked ichthyosis with extracutaneous manifestations; Syndromic RXLI; Syndromic recessive X-linked ichthyosis (ORPHA:281090)
Gene: STS
Phenotype: Abdominal wall defect (HP:0010866)
Associated disease: Recessive X-linked ichthyosis with extracutaneous manifestations; Syndromic RXLI; Syndromic recessive X-linked ichthyosis (ORPHA:281090)
Gene: STS
Phenotype: Motor delay (HP:0001270)
Associated disease: X-linked ichthyosis; RXLI; XLI; Recessive X-linked ichthyosis; Steroid sulfatase deficiency (ORPHA:461)
Gene: STS
Phenotype: Seizure (HP:0001250)
Associated disease: Recessive X-linked ichthyosis with extracutaneous manifestations; Syndromic RXLI; Syndromic recessive X-linked ichthyosis (ORPHA:281090)
Gene: STS
Phenotype: Abnormal stomach morphology (HP:0002577)
Associated disease: Recessive X-linked ichthyosis with extracutaneous manifestations; Syndromic RXLI; Syndromic recessive X-linked ichthyosis (ORPHA:281090)
Gene: STS
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Recessive X-linked ichthyosis with extracutaneous manifestations; Syndromic RXLI; Syndromic recessive X-linked ichthyosis (ORPHA:281090)
Gene: STS
Phenotype: Intellectual disability (HP:0001249)
Associated disease: X-linked ichthyosis; RXLI; XLI; Recessive X-linked ichthyosis; Steroid sulfatase deficiency (ORPHA:461)
Gene: STS
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ICHTHYOSIS, X-LINKED (OMIM:308100)
Gene: STS
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Recessive X-linked ichthyosis with extracutaneous manifestations; Syndromic RXLI; Syndromic recessive X-linked ichthyosis (ORPHA:281090)
Gene: STS
Phenotype: Congenital ichthyosiform erythroderma (HP:0007431)
Associated disease: ICHTHYOSIS, X-LINKED (OMIM:308100)
Gene: STS
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Recessive X-linked ichthyosis with extracutaneous manifestations; Syndromic RXLI; Syndromic recessive X-linked ichthyosis (ORPHA:281090)
Gene: STS
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Recessive X-linked ichthyosis with extracutaneous manifestations; Syndromic RXLI; Syndromic recessive X-linked ichthyosis (ORPHA:281090)
Gene: STS
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: X-linked ichthyosis; RXLI; XLI; Recessive X-linked ichthyosis; Steroid sulfatase deficiency (ORPHA:461)
Gene: STS
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: ICHTHYOSIS, X-LINKED (OMIM:308100)
Gene: STS
Phenotype: Desquamation of skin soon after birth (HP:0007549)
Associated disease: X-linked ichthyosis; RXLI; XLI; Recessive X-linked ichthyosis; Steroid sulfatase deficiency (ORPHA:461)
Gene: STS
Phenotype: Lissencephaly (HP:0001339)
Associated disease: Recessive X-linked ichthyosis with extracutaneous manifestations; Syndromic RXLI; Syndromic recessive X-linked ichthyosis (ORPHA:281090)
Gene: STS
Phenotype: Hypogonadism (HP:0000135)
Associated disease: Recessive X-linked ichthyosis with extracutaneous manifestations; Syndromic RXLI; Syndromic recessive X-linked ichthyosis (ORPHA:281090)
Gene: STS
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: Recessive X-linked ichthyosis with extracutaneous manifestations; Syndromic RXLI; Syndromic recessive X-linked ichthyosis (ORPHA:281090)
Gene: STS
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: ICHTHYOSIS, X-LINKED (OMIM:308100)
Gene: STS
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: X-linked ichthyosis; RXLI; XLI; Recessive X-linked ichthyosis; Steroid sulfatase deficiency (ORPHA:461)
Gene: STS
Phenotype: Palmar hyperlinearity (HP:0033252)
Associated disease: ICHTHYOSIS, X-LINKED (OMIM:308100)
Gene: STS
Phenotype: Infantile onset (HP:0003593)
Associated disease: ICHTHYOSIS, X-LINKED (OMIM:308100)
Gene: STS
Phenotype: Congenital onset (HP:0003577)
Associated disease: ICHTHYOSIS, X-LINKED (OMIM:308100)
Gene: STS
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Recessive X-linked ichthyosis with extracutaneous manifestations; Syndromic RXLI; Syndromic recessive X-linked ichthyosis (ORPHA:281090)
Gene: STS
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: X-linked ichthyosis; RXLI; XLI; Recessive X-linked ichthyosis; Steroid sulfatase deficiency (ORPHA:461)
Gene: STS
Phenotype: Aphasia (HP:0002381)
Associated disease: Recessive X-linked ichthyosis with extracutaneous manifestations; Syndromic RXLI; Syndromic recessive X-linked ichthyosis (ORPHA:281090)
Gene: STS
Phenotype: Testicular seminoma (HP:0100617)
Associated disease: Recessive X-linked ichthyosis with extracutaneous manifestations; Syndromic RXLI; Syndromic recessive X-linked ichthyosis (ORPHA:281090)
Gene: STS
Phenotype: Testicular neoplasm (HP:0010788)
Associated disease: ICHTHYOSIS, X-LINKED (OMIM:308100)
Gene: STS
Phenotype: Neonatal onset (HP:0003623)
Associated disease: ICHTHYOSIS, X-LINKED (OMIM:308100)