TaoMedAI/RareMedData huggingface dataset:
Gene: UNC13D
Phenotype: Decreased total granulocyte count (HP:0001913)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3 (OMIM:608898)
Gene: UNC13D
Phenotype: Functional motor deficit (HP:0004302)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: UNC13D
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: UNC13D
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: UNC13D
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: UNC13D
Phenotype: Childhood onset (HP:0011463)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3 (OMIM:608898)
Gene: UNC13D
Phenotype: Increased circulating interleukin 6 concentration (HP:0030783)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: UNC13D
Phenotype: Increased circulating ferritin concentration (HP:0003281)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: UNC13D
Phenotype: Abnormality of the coagulation cascade (HP:0003256)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: UNC13D
Phenotype: Purpura (HP:0000979)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: UNC13D
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: UNC13D
Phenotype: Skin rash (HP:0000988)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: UNC13D
Phenotype: Jaundice (HP:0000952)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: UNC13D
Phenotype: Petechiae (HP:0000967)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: UNC13D
Phenotype: Maculopapular exanthema (HP:0040186)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: UNC13D
Phenotype: CSF pleocytosis (HP:0012229)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: UNC13D
Phenotype: Abnormal renal physiology (HP:0012211)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: UNC13D
Phenotype: Ecchymosis (HP:0031364)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: UNC13D
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: UNC13D
Phenotype: Immune dysregulation (HP:0002958)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: UNC13D
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: UNC13D
Phenotype: Abnormality of tumor necrosis factor secretion (HP:0011118)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: UNC13D
Phenotype: Abnormal skin morphology (HP:0011121)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: UNC13D
Phenotype: Abnormal circulating cytokine concentration (HP:0011112)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: UNC13D
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: UNC13D
Phenotype: Early young adult onset (HP:0025708)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3 (OMIM:608898)
Gene: UNC13D
Phenotype: Increased circulating interferon-gamma concentration (HP:0030356)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: UNC13D
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: UNC13D
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STT3B
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: STT3B-CDG; Carbohydrate deficient glycoprotein syndrome type Ix; CDG syndrome type Ix; CDG1X; Congenital disorder of glycosylation type 1x; CDG-Ix; Congenital disorder of glycosylation type Ix (ORPHA:370924)
Gene: STT3B
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ix (OMIM:615597)
Gene: STT3B
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: STT3B-CDG; Carbohydrate deficient glycoprotein syndrome type Ix; CDG syndrome type Ix; CDG1X; Congenital disorder of glycosylation type 1x; CDG-Ix; Congenital disorder of glycosylation type Ix (ORPHA:370924)
Gene: STT3B
Phenotype: Seizure (HP:0001250)
Associated disease: STT3B-CDG; Carbohydrate deficient glycoprotein syndrome type Ix; CDG syndrome type Ix; CDG1X; Congenital disorder of glycosylation type 1x; CDG-Ix; Congenital disorder of glycosylation type Ix (ORPHA:370924)
Gene: STT3B
Phenotype: Seizure (HP:0001250)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ix (OMIM:615597)
Gene: STT3B
Phenotype: Hypotonia (HP:0001252)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ix (OMIM:615597)
Gene: STT3B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: STT3B-CDG; Carbohydrate deficient glycoprotein syndrome type Ix; CDG syndrome type Ix; CDG1X; Congenital disorder of glycosylation type 1x; CDG-Ix; Congenital disorder of glycosylation type Ix (ORPHA:370924)
Gene: STT3B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ix (OMIM:615597)
Gene: STT3B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: STT3B-CDG; Carbohydrate deficient glycoprotein syndrome type Ix; CDG syndrome type Ix; CDG1X; Congenital disorder of glycosylation type 1x; CDG-Ix; Congenital disorder of glycosylation type Ix (ORPHA:370924)
Gene: STT3B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ix (OMIM:615597)
Gene: STT3B
Phenotype: Death in childhood (HP:0003819)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ix (OMIM:615597)
Gene: STT3B
Phenotype: Abnormality of the genital system (HP:0000078)
Associated disease: STT3B-CDG; Carbohydrate deficient glycoprotein syndrome type Ix; CDG syndrome type Ix; CDG1X; Congenital disorder of glycosylation type 1x; CDG-Ix; Congenital disorder of glycosylation type Ix (ORPHA:370924)
Gene: STT3B
Phenotype: Small scrotum (HP:0000046)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ix (OMIM:615597)
Gene: STT3B
Phenotype: Small scrotum (HP:0000046)
Associated disease: STT3B-CDG; Carbohydrate deficient glycoprotein syndrome type Ix; CDG syndrome type Ix; CDG1X; Congenital disorder of glycosylation type 1x; CDG-Ix; Congenital disorder of glycosylation type Ix (ORPHA:370924)
Gene: STT3B
Phenotype: Micropenis (HP:0000054)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ix (OMIM:615597)
Gene: STT3B
Phenotype: Micropenis (HP:0000054)
Associated disease: STT3B-CDG; Carbohydrate deficient glycoprotein syndrome type Ix; CDG syndrome type Ix; CDG1X; Congenital disorder of glycosylation type 1x; CDG-Ix; Congenital disorder of glycosylation type Ix (ORPHA:370924)
Gene: STT3B
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: STT3B-CDG; Carbohydrate deficient glycoprotein syndrome type Ix; CDG syndrome type Ix; CDG1X; Congenital disorder of glycosylation type 1x; CDG-Ix; Congenital disorder of glycosylation type Ix (ORPHA:370924)
Gene: STT3B
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ix (OMIM:615597)
Gene: STT3B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ix (OMIM:615597)
Gene: STT3B
Phenotype: Respiratory distress (HP:0002098)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ix (OMIM:615597)
Gene: STT3B
Phenotype: Respiratory distress (HP:0002098)
Associated disease: STT3B-CDG; Carbohydrate deficient glycoprotein syndrome type Ix; CDG syndrome type Ix; CDG1X; Congenital disorder of glycosylation type 1x; CDG-Ix; Congenital disorder of glycosylation type Ix (ORPHA:370924)
Gene: STT3B
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: STT3B-CDG; Carbohydrate deficient glycoprotein syndrome type Ix; CDG syndrome type Ix; CDG1X; Congenital disorder of glycosylation type 1x; CDG-Ix; Congenital disorder of glycosylation type Ix (ORPHA:370924)
Gene: STT3B
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ix (OMIM:615597)
Gene: STT3B
Phenotype: Optic atrophy (HP:0000648)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ix (OMIM:615597)
Gene: STT3B
Phenotype: Optic atrophy (HP:0000648)
Associated disease: STT3B-CDG; Carbohydrate deficient glycoprotein syndrome type Ix; CDG syndrome type Ix; CDG1X; Congenital disorder of glycosylation type 1x; CDG-Ix; Congenital disorder of glycosylation type Ix (ORPHA:370924)
Gene: STT3B
Phenotype: Fetal onset (HP:0011461)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ix (OMIM:615597)
Gene: STT3B
Phenotype: Microcephaly (HP:0000252)
Associated disease: STT3B-CDG; Carbohydrate deficient glycoprotein syndrome type Ix; CDG syndrome type Ix; CDG1X; Congenital disorder of glycosylation type 1x; CDG-Ix; Congenital disorder of glycosylation type Ix (ORPHA:370924)
Gene: STT3B
Phenotype: Microcephaly (HP:0000252)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ix (OMIM:615597)
Gene: STT3B
Phenotype: Failure to thrive (HP:0001508)
Associated disease: STT3B-CDG; Carbohydrate deficient glycoprotein syndrome type Ix; CDG syndrome type Ix; CDG1X; Congenital disorder of glycosylation type 1x; CDG-Ix; Congenital disorder of glycosylation type Ix (ORPHA:370924)
Gene: STT3B
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ix (OMIM:615597)
Gene: STT3B
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ix (OMIM:615597)
Gene: STT3B
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: STT3B-CDG; Carbohydrate deficient glycoprotein syndrome type Ix; CDG syndrome type Ix; CDG1X; Congenital disorder of glycosylation type 1x; CDG-Ix; Congenital disorder of glycosylation type Ix (ORPHA:370924)
Gene: STT3B
Phenotype: Abnormal glycosylation (HP:0012345)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ix (OMIM:615597)
Gene: STT3B
Phenotype: Abnormal glycosylation (HP:0012345)
Associated disease: STT3B-CDG; Carbohydrate deficient glycoprotein syndrome type Ix; CDG syndrome type Ix; CDG1X; Congenital disorder of glycosylation type 1x; CDG-Ix; Congenital disorder of glycosylation type Ix (ORPHA:370924)
Gene: STT3B
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ix (OMIM:615597)
Gene: STT3B
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: STT3B-CDG; Carbohydrate deficient glycoprotein syndrome type Ix; CDG syndrome type Ix; CDG1X; Congenital disorder of glycosylation type 1x; CDG-Ix; Congenital disorder of glycosylation type Ix (ORPHA:370924)
Gene: PRIMPOL
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRIMPOL
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRIMPOL
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRIMPOL
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MYOPIA 22, AUTOSOMAL DOMINANT (OMIM:615420)
Gene: PRIMPOL
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRIMPOL
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRIMPOL
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: MYOPIA 22, AUTOSOMAL DOMINANT (OMIM:615420)
Gene: PRIMPOL
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRIMPOL
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRIMPOL
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRIMPOL
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRIMPOL
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRIMPOL
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRIMPOL
Phenotype: High myopia (HP:0011003)
Associated disease: MYOPIA 22, AUTOSOMAL DOMINANT (OMIM:615420)
Gene: PRIMPOL
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRIMPOL
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRIMPOL
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRIMPOL
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TAPT1
Phenotype: Adducted thumb (HP:0001181)
Associated disease: OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE (OMIM:616897)
Gene: TAPT1
Phenotype: Single umbilical artery (HP:0001195)
Associated disease: OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE (OMIM:616897)
Gene: TAPT1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TAPT1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TAPT1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: TAPT1
Phenotype: Hypotonia (HP:0001252)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: TAPT1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAPT1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAPT1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: TAPT1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAPT1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TAPT1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE (OMIM:616897)
Gene: TAPT1
Phenotype: Micropenis (HP:0000054)
Associated disease: OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE (OMIM:616897)
Gene: TAPT1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: TAPT1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAPT1
Phenotype: Hypospadias (HP:0000047)
Associated disease: OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE (OMIM:616897)
Gene: TAPT1
Phenotype: J-shaped sella turcica (HP:0002680)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: TAPT1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TAPT1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAPT1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: TAPT1
Phenotype: Decreased palmar creases (HP:0006184)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: TAPT1
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: TAPT1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAPT1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TAPT1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAPT1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: TAPT1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAPT1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE (OMIM:616897)
Gene: TAPT1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: TAPT1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TAPT1
Phenotype: Scoliosis (HP:0002650)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: TAPT1
Phenotype: Scoliosis (HP:0002650)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: TAPT1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TAPT1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE (OMIM:616897)
Gene: TAPT1
Phenotype: Fractured radius (HP:0003978)
Associated disease: OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE (OMIM:616897)
Gene: TAPT1
Phenotype: Wormian bones (HP:0002645)
Associated disease: OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE (OMIM:616897)
Gene: TAPT1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAPT1
Phenotype: Decreased fibular diameter (HP:0031107)
Associated disease: OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE (OMIM:616897)
Gene: TAPT1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TAPT1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAPT1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAPT1
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: TAPT1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAPT1
Phenotype: Cleft palate (HP:0000175)
Associated disease: OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE (OMIM:616897)
Gene: TAPT1
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE (OMIM:616897)
Gene: TAPT1
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: TAPT1
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: TAPT1
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: TAPT1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: TAPT1
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: TAPT1
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE (OMIM:616897)
Gene: TAPT1
Phenotype: Thenar muscle atrophy (HP:0003393)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: TAPT1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TAPT1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAPT1
Phenotype: Contracture of the proximal interphalangeal joint of the 3rd finger (HP:0009471)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: TAPT1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: TAPT1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE (OMIM:616897)
Gene: TAPT1
Phenotype: Porencephalic cyst (HP:0002132)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: TAPT1
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: TAPT1
Phenotype: Overlapping fingers (HP:0010557)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: TAPT1
Phenotype: Contracture of the proximal interphalangeal joint of the 2nd finger (HP:0009540)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: TAPT1
Phenotype: Large fleshy ears (HP:0002265)
Associated disease: OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE (OMIM:616897)
Gene: TAPT1
Phenotype: Infantile onset (HP:0003593)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: TAPT1
Phenotype: Congenital onset (HP:0003577)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: TAPT1
Phenotype: Pleural effusion (HP:0002202)
Associated disease: OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE (OMIM:616897)
Gene: TAPT1
Phenotype: Coarse hair (HP:0002208)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: TAPT1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAPT1
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: TAPT1
Phenotype: Arterial rupture (HP:0025019)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: TAPT1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TAPT1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAPT1
Phenotype: Prolonged partial thromboplastin time (HP:0003645)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: TAPT1
Phenotype: Limb undergrowth (HP:0009826)
Associated disease: OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE (OMIM:616897)
Gene: TAPT1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAPT1
Phenotype: Iris atrophy (HP:0001089)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)