TaoMedAI/RareMedData huggingface dataset:
Gene: CRIPT
Phenotype: Spotty hypopigmentation (HP:0005590)
Associated disease: SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES (OMIM:615789)
Gene: CRIPT
Phenotype: Spotty hyperpigmentation (HP:0005585)
Associated disease: SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES (OMIM:615789)
Gene: CRIPT
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRIPT
Phenotype: Nystagmus (HP:0000639)
Associated disease: SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES (OMIM:615789)
Gene: CRIPT
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CRIPT
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CRIPT
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRIPT
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CRIPT
Phenotype: Anemia (HP:0001903)
Associated disease: SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES (OMIM:615789)
Gene: CRIPT
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRIPT
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRIPT
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CRIPT
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRIPT
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRIPT
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRIPT
Phenotype: Decreased body weight (HP:0004325)
Associated disease: SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES (OMIM:615789)
Gene: CRIPT
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CRIPT
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CRIPT
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRIPT
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRIPT
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRIPT
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRIPT
Phenotype: Profound global developmental delay (HP:0012736)
Associated disease: SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES (OMIM:615789)
Gene: CRIPT
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRIPT
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRIPT
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRIPT
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRIPT
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRIPT
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRIPT
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRIPT
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRIPT
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRIPT
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CRIPT
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CRIPT
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRIPT
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CRIPT
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES (OMIM:615789)
Gene: CRIPT
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRIPT
Phenotype: Osteopenia (HP:0000938)
Associated disease: SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES (OMIM:615789)
Gene: CRIPT
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRIPT
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRIPT
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRIPT
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRIPT
Phenotype: Microcephaly (HP:0000252)
Associated disease: SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES (OMIM:615789)
Gene: CRIPT
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CRIPT
Phenotype: Death in infancy (HP:0001522)
Associated disease: SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES (OMIM:615789)
Gene: CRIPT
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CRIPT
Phenotype: Small for gestational age (HP:0001518)
Associated disease: SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES (OMIM:615789)
Gene: CRIPT
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRIPT
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CRIPT
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRIPT
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRIPT
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CRIPT
Phenotype: High myopia (HP:0011003)
Associated disease: SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES (OMIM:615789)
Gene: CRIPT
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRIPT
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CRIPT
Phenotype: High forehead (HP:0000348)
Associated disease: SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES (OMIM:615789)
Gene: CRIPT
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRIPT
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRIPT
Phenotype: Microretrognathia (HP:0000308)
Associated disease: SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES (OMIM:615789)
Gene: CRIPT
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CRIPT
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRIPT
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES (OMIM:615789)
Gene: CRIPT
Phenotype: Anteverted nares (HP:0000463)
Associated disease: SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES (OMIM:615789)
Gene: CRIPT
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRIPT
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRIPT
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRIPT
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES (OMIM:615789)
Gene: CRIPT
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRIPT
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CRIPT
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRIPT
Phenotype: Proptosis (HP:0000520)
Associated disease: SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES (OMIM:615789)
Gene: CRIPT
Phenotype: Telecanthus (HP:0000506)
Associated disease: SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES (OMIM:615789)
Gene: CRIPT
Phenotype: Exotropia (HP:0000577)
Associated disease: SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES (OMIM:615789)
Gene: CRIPT
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRIPT
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRIPT
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CYP7B1
Phenotype: Impaired vibratory sensation (HP:0002495)
Associated disease: Autosomal recessive spastic paraplegia type 5A; SPG5A (ORPHA:100986)
Gene: CYP7B1
Phenotype: Lower limb amyotrophy (HP:0007210)
Associated disease: Autosomal recessive spastic paraplegia type 5A; SPG5A (ORPHA:100986)
Gene: CYP7B1
Phenotype: Lower limb amyotrophy (HP:0007210)
Associated disease: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (OMIM:270800)
Gene: CYP7B1
Phenotype: Limb dysmetria (HP:0002406)
Associated disease: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (OMIM:270800)
Gene: CYP7B1
Phenotype: Polyneuropathy (HP:0001271)
Associated disease: Autosomal recessive spastic paraplegia type 5A; SPG5A (ORPHA:100986)
Gene: CYP7B1
Phenotype: Dysarthria (HP:0001260)
Associated disease: Autosomal recessive spastic paraplegia type 5A; SPG5A (ORPHA:100986)
Gene: CYP7B1
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (OMIM:270800)
Gene: CYP7B1
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: Autosomal recessive spastic paraplegia type 5A; SPG5A (ORPHA:100986)
Gene: CYP7B1
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (OMIM:270800)
Gene: CYP7B1
Phenotype: Hematochezia (HP:0002573)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3 (OMIM:613812)
Gene: CYP7B1
Phenotype: Steatorrhea (HP:0002570)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3 (OMIM:613812)
Gene: CYP7B1
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Autosomal recessive spastic paraplegia type 5A; SPG5A (ORPHA:100986)
Gene: CYP7B1
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (OMIM:270800)
Gene: CYP7B1
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: Autosomal recessive spastic paraplegia type 5A; SPG5A (ORPHA:100986)
Gene: CYP7B1
Phenotype: Cholestasis (HP:0001396)
Associated disease: Oxysterol 7-alpha-hydroxylase deficiency; BASD3; Congenital bile acid synthesis defect type 3 (ORPHA:79302)
Gene: CYP7B1
Phenotype: Hepatic failure (HP:0001399)
Associated disease: Oxysterol 7-alpha-hydroxylase deficiency; BASD3; Congenital bile acid synthesis defect type 3 (ORPHA:79302)
Gene: CYP7B1
Phenotype: Hepatic failure (HP:0001399)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3 (OMIM:613812)
Gene: CYP7B1
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Oxysterol 7-alpha-hydroxylase deficiency; BASD3; Congenital bile acid synthesis defect type 3 (ORPHA:79302)
Gene: CYP7B1
Phenotype: Cirrhosis (HP:0001394)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3 (OMIM:613812)
Gene: CYP7B1
Phenotype: Abnormality of the urinary system (HP:0000079)
Associated disease: Autosomal recessive spastic paraplegia type 5A; SPG5A (ORPHA:100986)
Gene: CYP7B1
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (OMIM:270800)
Gene: CYP7B1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (OMIM:270800)
Gene: CYP7B1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (OMIM:270800)
Gene: CYP7B1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3 (OMIM:613812)
Gene: CYP7B1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Autosomal recessive spastic paraplegia type 5A; SPG5A (ORPHA:100986)
Gene: CYP7B1
Phenotype: Scoliosis (HP:0002650)
Associated disease: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (OMIM:270800)
Gene: CYP7B1
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: Autosomal recessive spastic paraplegia type 5A; SPG5A (ORPHA:100986)
Gene: CYP7B1
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (OMIM:270800)
Gene: CYP7B1
Phenotype: Fat malabsorption (HP:0002630)
Associated disease: Oxysterol 7-alpha-hydroxylase deficiency; BASD3; Congenital bile acid synthesis defect type 3 (ORPHA:79302)
Gene: CYP7B1
Phenotype: Hepatitis (HP:0012115)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3 (OMIM:613812)
Gene: CYP7B1
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Oxysterol 7-alpha-hydroxylase deficiency; BASD3; Congenital bile acid synthesis defect type 3 (ORPHA:79302)
Gene: CYP7B1
Phenotype: Bile duct proliferation (HP:0001408)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3 (OMIM:613812)
Gene: CYP7B1
Phenotype: Bile duct proliferation (HP:0001408)
Associated disease: Oxysterol 7-alpha-hydroxylase deficiency; BASD3; Congenital bile acid synthesis defect type 3 (ORPHA:79302)
Gene: CYP7B1
Phenotype: Intrahepatic cholestasis (HP:0001406)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3 (OMIM:613812)
Gene: CYP7B1
Phenotype: Diarrhea (HP:0002014)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3 (OMIM:613812)
Gene: CYP7B1
Phenotype: Dysphagia (HP:0002015)
Associated disease: Autosomal recessive spastic paraplegia type 5A; SPG5A (ORPHA:100986)
Gene: CYP7B1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (OMIM:270800)
Gene: CYP7B1
Phenotype: Spastic gait (HP:0002064)
Associated disease: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (OMIM:270800)
Gene: CYP7B1
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: Autosomal recessive spastic paraplegia type 5A; SPG5A (ORPHA:100986)
Gene: CYP7B1
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (OMIM:270800)
Gene: CYP7B1
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: Autosomal recessive spastic paraplegia type 5A; SPG5A (ORPHA:100986)
Gene: CYP7B1
Phenotype: Limb ataxia (HP:0002070)
Associated disease: Autosomal recessive spastic paraplegia type 5A; SPG5A (ORPHA:100986)
Gene: CYP7B1
Phenotype: Abnormality of vitamin metabolism (HP:0100508)
Associated disease: Oxysterol 7-alpha-hydroxylase deficiency; BASD3; Congenital bile acid synthesis defect type 3 (ORPHA:79302)
Gene: CYP7B1
Phenotype: Prolonged prothrombin time (HP:0008151)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3 (OMIM:613812)
Gene: CYP7B1
Phenotype: Babinski sign (HP:0003487)
Associated disease: Autosomal recessive spastic paraplegia type 5A; SPG5A (ORPHA:100986)
Gene: CYP7B1
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (OMIM:270800)
Gene: CYP7B1
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: Autosomal recessive spastic paraplegia type 5A; SPG5A (ORPHA:100986)
Gene: CYP7B1
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (OMIM:270800)
Gene: CYP7B1
Phenotype: Impaired vibration sensation in the lower limbs (HP:0002166)
Associated disease: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (OMIM:270800)
Gene: CYP7B1
Phenotype: Postural tremor (HP:0002174)
Associated disease: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (OMIM:270800)
Gene: CYP7B1
Phenotype: Middle age onset (HP:0003596)
Associated disease: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (OMIM:270800)
Gene: CYP7B1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3 (OMIM:613812)
Gene: CYP7B1
Phenotype: Acholic stools (HP:0011985)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3 (OMIM:613812)
Gene: CYP7B1
Phenotype: Progressive (HP:0003676)
Associated disease: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (OMIM:270800)
Gene: CYP7B1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3 (OMIM:613812)
Gene: CYP7B1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (OMIM:270800)
Gene: CYP7B1
Phenotype: Impaired distal proprioception (HP:0006858)
Associated disease: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (OMIM:270800)
Gene: CYP7B1
Phenotype: Atrophy of the spinal cord (HP:0006827)
Associated disease: Autosomal recessive spastic paraplegia type 5A; SPG5A (ORPHA:100986)
Gene: CYP7B1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Autosomal recessive spastic paraplegia type 5A; SPG5A (ORPHA:100986)
Gene: CYP7B1
Phenotype: Nystagmus (HP:0000639)
Associated disease: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (OMIM:270800)
Gene: CYP7B1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (OMIM:270800)
Gene: CYP7B1
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3 (OMIM:613812)
Gene: CYP7B1
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: Oxysterol 7-alpha-hydroxylase deficiency; BASD3; Congenital bile acid synthesis defect type 3 (ORPHA:79302)
Gene: CYP7B1
Phenotype: Upper limb spasticity (HP:0006986)
Associated disease: Autosomal recessive spastic paraplegia type 5A; SPG5A (ORPHA:100986)
Gene: CYP7B1
Phenotype: Upper limb spasticity (HP:0006986)
Associated disease: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (OMIM:270800)
Gene: CYP7B1
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3 (OMIM:613812)
Gene: CYP7B1
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: Oxysterol 7-alpha-hydroxylase deficiency; BASD3; Congenital bile acid synthesis defect type 3 (ORPHA:79302)
Gene: CYP7B1
Phenotype: Childhood onset (HP:0011463)
Associated disease: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (OMIM:270800)
Gene: CYP7B1
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (OMIM:270800)
Gene: CYP7B1
Phenotype: Ankle clonus (HP:0011448)
Associated disease: Autosomal recessive spastic paraplegia type 5A; SPG5A (ORPHA:100986)
Gene: CYP7B1
Phenotype: Upper limb amyotrophy (HP:0009129)
Associated disease: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (OMIM:270800)
Gene: CYP7B1
Phenotype: Upper limb amyotrophy (HP:0009129)
Associated disease: Autosomal recessive spastic paraplegia type 5A; SPG5A (ORPHA:100986)
Gene: CYP7B1
Phenotype: Abnormal circulating cholesterol concentration (HP:0003107)
Associated disease: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (OMIM:270800)
Gene: CYP7B1
Phenotype: Ductal bile plugs (HP:0034294)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3 (OMIM:613812)
Gene: CYP7B1
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: Oxysterol 7-alpha-hydroxylase deficiency; BASD3; Congenital bile acid synthesis defect type 3 (ORPHA:79302)
Gene: CYP7B1
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3 (OMIM:613812)
Gene: CYP7B1
Phenotype: Hepatic bridging fibrosis (HP:0012852)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3 (OMIM:613812)
Gene: CYP7B1
Phenotype: Hyperintensity of cerebral white matter on MRI (HP:0030890)
Associated disease: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (OMIM:270800)
Gene: CYP7B1
Phenotype: Jaundice (HP:0000952)
Associated disease: Oxysterol 7-alpha-hydroxylase deficiency; BASD3; Congenital bile acid synthesis defect type 3 (ORPHA:79302)
Gene: CYP7B1
Phenotype: Jaundice (HP:0000952)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3 (OMIM:613812)
Gene: CYP7B1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3 (OMIM:613812)
Gene: CYP7B1
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3 (OMIM:613812)
Gene: CYP7B1
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: Oxysterol 7-alpha-hydroxylase deficiency; BASD3; Congenital bile acid synthesis defect type 3 (ORPHA:79302)
Gene: CYP7B1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Autosomal recessive spastic paraplegia type 5A; SPG5A (ORPHA:100986)
Gene: CYP7B1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (OMIM:270800)
Gene: CYP7B1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3 (OMIM:613812)
Gene: CYP7B1
Phenotype: Pes cavus (HP:0001761)
Associated disease: Autosomal recessive spastic paraplegia type 5A; SPG5A (ORPHA:100986)
Gene: CYP7B1
Phenotype: Pes cavus (HP:0001761)
Associated disease: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (OMIM:270800)
Gene: CYP7B1
Phenotype: Cataract (HP:0000518)
Associated disease: Autosomal recessive spastic paraplegia type 5A; SPG5A (ORPHA:100986)
Gene: CYP7B1
Phenotype: Cataract (HP:0000518)
Associated disease: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (OMIM:270800)
Gene: HAND1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: HAND1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: HAND1
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: HAND1
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: HAND1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: HAND1
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: NTN1
Phenotype: Abnormal corticospinal tract morphology (HP:0002492)
Associated disease: Hereditary congenital controlateral synkinesia; Isolated congenital controlateral synkinesia; Isolated congenital mirror movements; Familial congenital mirror movements; Hereditary congenital mirror movements; Familial congenital controlateral synkinesia (ORPHA:238722)
Gene: NTN1
Phenotype: Dysgenesis of the hippocampus (HP:0025101)
Associated disease: Hereditary congenital controlateral synkinesia; Isolated congenital controlateral synkinesia; Isolated congenital mirror movements; Familial congenital mirror movements; Hereditary congenital mirror movements; Familial congenital controlateral synkinesia (ORPHA:238722)
Gene: NTN1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Hereditary congenital controlateral synkinesia; Isolated congenital controlateral synkinesia; Isolated congenital mirror movements; Familial congenital mirror movements; Hereditary congenital mirror movements; Familial congenital controlateral synkinesia (ORPHA:238722)
Gene: NTN1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: MIRROR MOVEMENTS 1 (OMIM:157600)
Gene: NTN1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: MIRROR MOVEMENTS 1 (OMIM:157600)