TaoMedAI/RareMedData huggingface dataset:
Gene: NDUFA11
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFA11
Phenotype: Strabismus (HP:0000486)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFA11
Phenotype: Brain atrophy (HP:0012444)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14 (OMIM:618236)
Gene: NDUFA11
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14 (OMIM:618236)
Gene: NDUFA11
Phenotype: Ptosis (HP:0000508)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFA11
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: CYP4F22
Phenotype: Sepsis (HP:0100806)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: CYP4F22
Phenotype: Aplasia/Hypoplasia of the eyebrow (HP:0100840)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: CYP4F22
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: CYP4F22
Phenotype: Congenital nonbullous ichthyosiform erythroderma (HP:0007479)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5 (OMIM:604777)
Gene: CYP4F22
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5 (OMIM:604777)
Gene: CYP4F22
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: CYP4F22
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: CYP4F22
Phenotype: Palmar hyperlinearity (HP:0033252)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5 (OMIM:604777)
Gene: CYP4F22
Phenotype: Congenital onset (HP:0003577)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5 (OMIM:604777)
Gene: CYP4F22
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: CYP4F22
Phenotype: Gangrene (HP:0100758)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: CYP4F22
Phenotype: Parakeratosis (HP:0001036)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5 (OMIM:604777)
Gene: CYP4F22
Phenotype: Erythroderma (HP:0001019)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5 (OMIM:604777)
Gene: CYP4F22
Phenotype: Erythroderma (HP:0001019)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: CYP4F22
Phenotype: Epidermal acanthosis (HP:0025092)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5 (OMIM:604777)
Gene: CYP4F22
Phenotype: Lack of skin elasticity (HP:0100679)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: CYP4F22
Phenotype: Dehydration (HP:0001944)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: CYP4F22
Phenotype: Acanthocytosis (HP:0001927)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5 (OMIM:604777)
Gene: CYP4F22
Phenotype: Ectropion (HP:0000656)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: CYP4F22
Phenotype: Short stature (HP:0004322)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: CYP4F22
Phenotype: Pruritus (HP:0000989)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: CYP4F22
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5 (OMIM:604777)
Gene: CYP4F22
Phenotype: Dry skin (HP:0000958)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: CYP4F22
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: CYP4F22
Phenotype: Orthokeratosis (HP:0040162)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5 (OMIM:604777)
Gene: CYP4F22
Phenotype: Sparse hair (HP:0008070)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: CYP4F22
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: CYP4F22
Phenotype: White scaling skin (HP:0040190)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5 (OMIM:604777)
Gene: CYP4F22
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: CYP4F22
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: CYP4F22
Phenotype: Abnormal helix morphology (HP:0011039)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: CYP4F22
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: KDF1
Phenotype: Trichorrhexis nodosa (HP:0009886)
Associated disease: ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE (OMIM:617337)
Gene: KDF1
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: AD-HED; Autosomal dominant hypohidrotic ectodermal dysplasia; Autosomal dominant anhidrotic ectodermal dysplasia (ORPHA:1810)
Gene: KDF1
Phenotype: Hypoplastic sweat glands (HP:0007387)
Associated disease: ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE (OMIM:617337)
Gene: KDF1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE (OMIM:617337)
Gene: KDF1
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: AD-HED; Autosomal dominant hypohidrotic ectodermal dysplasia; Autosomal dominant anhidrotic ectodermal dysplasia (ORPHA:1810)
Gene: KDF1
Phenotype: Cleft palate (HP:0000175)
Associated disease: ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE (OMIM:617337)
Gene: KDF1
Phenotype: Premature loss of primary teeth (HP:0006323)
Associated disease: AD-HED; Autosomal dominant hypohidrotic ectodermal dysplasia; Autosomal dominant anhidrotic ectodermal dysplasia (ORPHA:1810)
Gene: KDF1
Phenotype: Knuckle pad (HP:0032541)
Associated disease: ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE (OMIM:617337)
Gene: KDF1
Phenotype: Malignant hyperthermia (HP:0002047)
Associated disease: AD-HED; Autosomal dominant hypohidrotic ectodermal dysplasia; Autosomal dominant anhidrotic ectodermal dysplasia (ORPHA:1810)
Gene: KDF1
Phenotype: Palmar hyperlinearity (HP:0033252)
Associated disease: ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE (OMIM:617337)
Gene: KDF1
Phenotype: Sparse body hair (HP:0002231)
Associated disease: AD-HED; Autosomal dominant hypohidrotic ectodermal dysplasia; Autosomal dominant anhidrotic ectodermal dysplasia (ORPHA:1810)
Gene: KDF1
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE (OMIM:617337)
Gene: KDF1
Phenotype: Subungual hyperkeratosis (HP:0008392)
Associated disease: ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE (OMIM:617337)
Gene: KDF1
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: AD-HED; Autosomal dominant hypohidrotic ectodermal dysplasia; Autosomal dominant anhidrotic ectodermal dysplasia (ORPHA:1810)
Gene: KDF1
Phenotype: Keratosis pilaris (HP:0032152)
Associated disease: ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE (OMIM:617337)
Gene: KDF1
Phenotype: Natal tooth (HP:0000695)
Associated disease: ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE (OMIM:617337)
Gene: KDF1
Phenotype: Hypodontia (HP:0000668)
Associated disease: AD-HED; Autosomal dominant hypohidrotic ectodermal dysplasia; Autosomal dominant anhidrotic ectodermal dysplasia (ORPHA:1810)
Gene: KDF1
Phenotype: Scarring alopecia of scalp (HP:0004552)
Associated disease: ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE (OMIM:617337)
Gene: KDF1
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE (OMIM:617337)
Gene: KDF1
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: AD-HED; Autosomal dominant hypohidrotic ectodermal dysplasia; Autosomal dominant anhidrotic ectodermal dysplasia (ORPHA:1810)
Gene: KDF1
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE (OMIM:617337)
Gene: KDF1
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: AD-HED; Autosomal dominant hypohidrotic ectodermal dysplasia; Autosomal dominant anhidrotic ectodermal dysplasia (ORPHA:1810)
Gene: KDF1
Phenotype: Thin skin (HP:0000963)
Associated disease: AD-HED; Autosomal dominant hypohidrotic ectodermal dysplasia; Autosomal dominant anhidrotic ectodermal dysplasia (ORPHA:1810)
Gene: KDF1
Phenotype: Orthokeratosis (HP:0040162)
Associated disease: ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE (OMIM:617337)
Gene: KDF1
Phenotype: Sparse hair (HP:0008070)
Associated disease: AD-HED; Autosomal dominant hypohidrotic ectodermal dysplasia; Autosomal dominant anhidrotic ectodermal dysplasia (ORPHA:1810)
Gene: KDF1
Phenotype: Acne inversa (HP:0040154)
Associated disease: ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE (OMIM:617337)
Gene: KDF1
Phenotype: Abnormal dental morphology (HP:0006482)
Associated disease: AD-HED; Autosomal dominant hypohidrotic ectodermal dysplasia; Autosomal dominant anhidrotic ectodermal dysplasia (ORPHA:1810)
Gene: KDF1
Phenotype: Short philtrum (HP:0000322)
Associated disease: ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE (OMIM:617337)
Gene: KDF1
Phenotype: Sparse lateral eyebrow (HP:0005338)
Associated disease: ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE (OMIM:617337)
Gene: KDF1
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: AD-HED; Autosomal dominant hypohidrotic ectodermal dysplasia; Autosomal dominant anhidrotic ectodermal dysplasia (ORPHA:1810)
Gene: KDF1
Phenotype: Concave nasal ridge (HP:0011120)
Associated disease: ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE (OMIM:617337)
Gene: KDF1
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: AD-HED; Autosomal dominant hypohidrotic ectodermal dysplasia; Autosomal dominant anhidrotic ectodermal dysplasia (ORPHA:1810)
Gene: KDF1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: AD-HED; Autosomal dominant hypohidrotic ectodermal dysplasia; Autosomal dominant anhidrotic ectodermal dysplasia (ORPHA:1810)
Gene: B3GALT6
Phenotype: Adducted thumb (HP:0001181)
Associated disease: B3GALT6-related spondylodysplastic EDS; spEDS-B3GALT6; Beta3GalT6-deficient EDS; Ehlers-Danlos syndrome progeroid type 2; B3GALT6-related spEDS; B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome (ORPHA:536467)
Gene: B3GALT6
Phenotype: Brachydactyly (HP:0001156)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: B3GALT6-related spondylodysplastic EDS; spEDS-B3GALT6; Beta3GalT6-deficient EDS; Ehlers-Danlos syndrome progeroid type 2; B3GALT6-related spEDS; B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome (ORPHA:536467)
Gene: B3GALT6
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Microtia (HP:0008551)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: B3GALT6
Phenotype: Stroke (HP:0001297)
Associated disease: B3GALT6-related spondylodysplastic EDS; spEDS-B3GALT6; Beta3GalT6-deficient EDS; Ehlers-Danlos syndrome progeroid type 2; B3GALT6-related spEDS; B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome (ORPHA:536467)
Gene: B3GALT6
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: B3GALT6
Phenotype: Motor delay (HP:0001270)
Associated disease: B3GALT6-related spondylodysplastic EDS; spEDS-B3GALT6; Beta3GalT6-deficient EDS; Ehlers-Danlos syndrome progeroid type 2; B3GALT6-related spEDS; B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome (ORPHA:536467)
Gene: B3GALT6
Phenotype: Motor delay (HP:0001270)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 (OMIM:615349)
Gene: B3GALT6
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: B3GALT6
Phenotype: Seizure (HP:0001250)
Associated disease: B3GALT6-related spondylodysplastic EDS; spEDS-B3GALT6; Beta3GalT6-deficient EDS; Ehlers-Danlos syndrome progeroid type 2; B3GALT6-related spEDS; B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome (ORPHA:536467)
Gene: B3GALT6
Phenotype: Hypotonia (HP:0001252)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Hypotonia (HP:0001252)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: B3GALT6
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GALT6
Phenotype: Hypotonia (HP:0001252)
Associated disease: B3GALT6-related spondylodysplastic EDS; spEDS-B3GALT6; Beta3GalT6-deficient EDS; Ehlers-Danlos syndrome progeroid type 2; B3GALT6-related spEDS; B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome (ORPHA:536467)
Gene: B3GALT6
Phenotype: Hypotonia (HP:0001252)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 (OMIM:615349)
Gene: B3GALT6
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Intellectual disability (HP:0001249)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GALT6
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GALT6
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: B3GALT6
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GALT6
Phenotype: Global developmental delay (HP:0001263)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 (OMIM:615349)
Gene: B3GALT6
Phenotype: Wrist flexion contracture (HP:0001239)
Associated disease: AL-GAZALI SYNDROME (OMIM:609465)
Gene: B3GALT6
Phenotype: Short femoral neck (HP:0100864)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Short femoral neck (HP:0100864)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Multiple carpal ossification centers (HP:0006067)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Multiple carpal ossification centers (HP:0006067)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GALT6
Phenotype: Bowed humerus (HP:0003865)
Associated disease: AL-GAZALI SYNDROME (OMIM:609465)
Gene: B3GALT6
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Tapered humerus (HP:0003883)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GALT6
Phenotype: Spatulate thumbs (HP:0001222)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 (OMIM:615349)
Gene: B3GALT6
Phenotype: Spatulate thumbs (HP:0001222)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GALT6
Phenotype: Spatulate thumbs (HP:0001222)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: B3GALT6
Phenotype: Waddling gait (HP:0002515)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Shoulder dislocation (HP:0003834)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Finger joint hypermobility (HP:0006094)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 (OMIM:615349)
Gene: B3GALT6
Phenotype: Finger joint hypermobility (HP:0006094)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Acetabular dysplasia (HP:0008807)
Associated disease: B3GALT6-related spondylodysplastic EDS; spEDS-B3GALT6; Beta3GalT6-deficient EDS; Ehlers-Danlos syndrome progeroid type 2; B3GALT6-related spEDS; B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome (ORPHA:536467)
Gene: B3GALT6
Phenotype: Flexion contracture (HP:0001371)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Flexion contracture (HP:0001371)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Joint dislocation (HP:0001373)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: B3GALT6-related spondylodysplastic EDS; spEDS-B3GALT6; Beta3GalT6-deficient EDS; Ehlers-Danlos syndrome progeroid type 2; B3GALT6-related spEDS; B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome (ORPHA:536467)
Gene: B3GALT6
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 (OMIM:615349)
Gene: B3GALT6
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: B3GALT6
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GALT6
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GALT6
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: B3GALT6-related spondylodysplastic EDS; spEDS-B3GALT6; Beta3GalT6-deficient EDS; Ehlers-Danlos syndrome progeroid type 2; B3GALT6-related spEDS; B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome (ORPHA:536467)
Gene: B3GALT6
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 (OMIM:615349)
Gene: B3GALT6
Phenotype: J-shaped sella turcica (HP:0002680)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: B3GALT6
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: B3GALT6-related spondylodysplastic EDS; spEDS-B3GALT6; Beta3GalT6-deficient EDS; Ehlers-Danlos syndrome progeroid type 2; B3GALT6-related spEDS; B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome (ORPHA:536467)
Gene: B3GALT6
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: B3GALT6
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: B3GALT6-related spondylodysplastic EDS; spEDS-B3GALT6; Beta3GalT6-deficient EDS; Ehlers-Danlos syndrome progeroid type 2; B3GALT6-related spEDS; B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome (ORPHA:536467)
Gene: B3GALT6
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GALT6
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GALT6
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: B3GALT6
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: B3GALT6-related spondylodysplastic EDS; spEDS-B3GALT6; Beta3GalT6-deficient EDS; Ehlers-Danlos syndrome progeroid type 2; B3GALT6-related spEDS; B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome (ORPHA:536467)
Gene: B3GALT6
Phenotype: Delayed proximal femoral epiphyseal ossification (HP:0008828)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Multiple joint dislocation (HP:0012095)
Associated disease: B3GALT6-related spondylodysplastic EDS; spEDS-B3GALT6; Beta3GalT6-deficient EDS; Ehlers-Danlos syndrome progeroid type 2; B3GALT6-related spEDS; B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome (ORPHA:536467)
Gene: B3GALT6
Phenotype: Large iliac wing (HP:0008818)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Hypoplastic iliac body (HP:0008824)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 (OMIM:615349)
Gene: B3GALT6
Phenotype: Hypoplastic iliac body (HP:0008824)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Decreased palmar creases (HP:0006184)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: B3GALT6
Phenotype: Dislocated wrist (HP:0003994)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GALT6
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: B3GALT6
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 (OMIM:615349)
Gene: B3GALT6
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GALT6
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 (OMIM:615349)
Gene: B3GALT6
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: B3GALT6
Phenotype: Spondyloepiphyseal dysplasia (HP:0002655)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GALT6
Phenotype: Coxa valga (HP:0002673)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: AL-GAZALI SYNDROME (OMIM:609465)
Gene: B3GALT6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: B3GALT6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)