TaoMedAI/RareMedData huggingface dataset:
Gene: TRAPPC11
Phenotype: Esophagitis (HP:0100633)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18 (OMIM:615356)
Gene: TRAPPC11
Phenotype: Athetosis (HP:0002305)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18 (OMIM:615356)
Gene: TRAPPC11
Phenotype: Progressive proximal muscle weakness (HP:0009073)
Associated disease: Intellectual disability-hyperkinetic movement-truncal ataxia syndrome (ORPHA:369847)
Gene: TRAPPC11
Phenotype: Intellectual disability, borderline (HP:0006889)
Associated disease: LGMD2S; LGMD type 2S; TRAPPC11-related LGMD R18; Autosomal recessive limb-girdle muscular dystrophy type 2S; Limb-girdle muscular dystrophy type 2S; TRAPPC11-related limb-girdle muscular dystrophy R18 (ORPHA:369840)
Gene: TRAPPC11
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: TRAPPC11
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: TRAPPC11
Phenotype: Exercise-induced muscle fatigue (HP:0009020)
Associated disease: Intellectual disability-hyperkinetic movement-truncal ataxia syndrome (ORPHA:369847)
Gene: TRAPPC11
Phenotype: Short stature (HP:0004322)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18 (OMIM:615356)
Gene: TRAPPC11
Phenotype: Short stature (HP:0004322)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: TRAPPC11
Phenotype: Decreased circulating aldosterone concentration (HP:0004319)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: TRAPPC11
Phenotype: Cough (HP:0012735)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: TRAPPC11
Phenotype: Childhood onset (HP:0011463)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18 (OMIM:615356)
Gene: TRAPPC11
Phenotype: Cerebral white matter atrophy (HP:0012762)
Associated disease: LGMD2S; LGMD type 2S; TRAPPC11-related LGMD R18; Autosomal recessive limb-girdle muscular dystrophy type 2S; Limb-girdle muscular dystrophy type 2S; TRAPPC11-related limb-girdle muscular dystrophy R18 (ORPHA:369840)
Gene: TRAPPC11
Phenotype: Myopathy (HP:0003198)
Associated disease: LGMD2S; LGMD type 2S; TRAPPC11-related LGMD R18; Autosomal recessive limb-girdle muscular dystrophy type 2S; Limb-girdle muscular dystrophy type 2S; TRAPPC11-related limb-girdle muscular dystrophy R18 (ORPHA:369840)
Gene: TRAPPC11
Phenotype: Myopathy (HP:0003198)
Associated disease: Intellectual disability-hyperkinetic movement-truncal ataxia syndrome (ORPHA:369847)
Gene: TRAPPC11
Phenotype: Increased circulating ACTH level (HP:0003154)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: TRAPPC11
Phenotype: Adrenal insufficiency (HP:0000846)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: TRAPPC11
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: TRAPPC11
Phenotype: Abnormal circulating creatine kinase concentration (HP:0040081)
Associated disease: LGMD2S; LGMD type 2S; TRAPPC11-related LGMD R18; Autosomal recessive limb-girdle muscular dystrophy type 2S; Limb-girdle muscular dystrophy type 2S; TRAPPC11-related limb-girdle muscular dystrophy R18 (ORPHA:369840)
Gene: TRAPPC11
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18 (OMIM:615356)
Gene: TRAPPC11
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: TRAPPC11
Phenotype: Muscle fiber atrophy (HP:0100295)
Associated disease: LGMD2S; LGMD type 2S; TRAPPC11-related LGMD R18; Autosomal recessive limb-girdle muscular dystrophy type 2S; Limb-girdle muscular dystrophy type 2S; TRAPPC11-related limb-girdle muscular dystrophy R18 (ORPHA:369840)
Gene: TRAPPC11
Phenotype: Right ventricular dilatation (HP:0005133)
Associated disease: LGMD2S; LGMD type 2S; TRAPPC11-related LGMD R18; Autosomal recessive limb-girdle muscular dystrophy type 2S; Limb-girdle muscular dystrophy type 2S; TRAPPC11-related limb-girdle muscular dystrophy R18 (ORPHA:369840)
Gene: TRAPPC11
Phenotype: Right ventricular dilatation (HP:0005133)
Associated disease: Intellectual disability-hyperkinetic movement-truncal ataxia syndrome (ORPHA:369847)
Gene: TRAPPC11
Phenotype: Microcephaly (HP:0000252)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18 (OMIM:615356)
Gene: TRAPPC11
Phenotype: Microcephaly (HP:0000252)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: TRAPPC11
Phenotype: Microcephaly (HP:0000252)
Associated disease: LGMD2S; LGMD type 2S; TRAPPC11-related LGMD R18; Autosomal recessive limb-girdle muscular dystrophy type 2S; Limb-girdle muscular dystrophy type 2S; TRAPPC11-related limb-girdle muscular dystrophy R18 (ORPHA:369840)
Gene: TRAPPC11
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: TRAPPC11
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18 (OMIM:615356)
Gene: TRAPPC11
Phenotype: Speech apraxia (HP:0011098)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18 (OMIM:615356)
Gene: TRAPPC11
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: TRAPPC11
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18 (OMIM:615356)
Gene: TRAPPC11
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: LGMD2S; LGMD type 2S; TRAPPC11-related LGMD R18; Autosomal recessive limb-girdle muscular dystrophy type 2S; Limb-girdle muscular dystrophy type 2S; TRAPPC11-related limb-girdle muscular dystrophy R18 (ORPHA:369840)
Gene: TRAPPC11
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: TRAPPC11
Phenotype: Strabismus (HP:0000486)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18 (OMIM:615356)
Gene: TRAPPC11
Phenotype: Strabismus (HP:0000486)
Associated disease: Intellectual disability-hyperkinetic movement-truncal ataxia syndrome (ORPHA:369847)
Gene: TRAPPC11
Phenotype: Pes cavus (HP:0001761)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: TRAPPC11
Phenotype: Limb-girdle muscular dystrophy (HP:0006785)
Associated disease: LGMD2S; LGMD type 2S; TRAPPC11-related LGMD R18; Autosomal recessive limb-girdle muscular dystrophy type 2S; Limb-girdle muscular dystrophy type 2S; TRAPPC11-related limb-girdle muscular dystrophy R18 (ORPHA:369840)
Gene: TRAPPC11
Phenotype: Limb-girdle muscular dystrophy (HP:0006785)
Associated disease: Intellectual disability-hyperkinetic movement-truncal ataxia syndrome (ORPHA:369847)
Gene: TRAPPC11
Phenotype: Limb-girdle muscular dystrophy (HP:0006785)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18 (OMIM:615356)
Gene: TRAPPC11
Phenotype: Cataract (HP:0000518)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18 (OMIM:615356)
Gene: TRAPPC11
Phenotype: Cataract (HP:0000518)
Associated disease: LGMD2S; LGMD type 2S; TRAPPC11-related LGMD R18; Autosomal recessive limb-girdle muscular dystrophy type 2S; Limb-girdle muscular dystrophy type 2S; TRAPPC11-related limb-girdle muscular dystrophy R18 (ORPHA:369840)
Gene: TRAPPC11
Phenotype: Cataract (HP:0000518)
Associated disease: Intellectual disability-hyperkinetic movement-truncal ataxia syndrome (ORPHA:369847)
Gene: TRAPPC11
Phenotype: Alacrima (HP:0000522)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18 (OMIM:615356)
Gene: TRAPPC11
Phenotype: Alacrima (HP:0000522)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: TRAPPC11
Phenotype: Weight loss (HP:0001824)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: TRAPPC11
Phenotype: Visual impairment (HP:0000505)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: TRAPPC11
Phenotype: Myopia (HP:0000545)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18 (OMIM:615356)
Gene: TRAPPC11
Phenotype: Myopia (HP:0000545)
Associated disease: Intellectual disability-hyperkinetic movement-truncal ataxia syndrome (ORPHA:369847)
Gene: BCORL1
Phenotype: Tapered finger (HP:0001182)
Associated disease: SHUKLA-VERNON SYNDROME (OMIM:301029)
Gene: BCORL1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: SHUKLA-VERNON SYNDROME (OMIM:301029)
Gene: BCORL1
Phenotype: Long fingers (HP:0100807)
Associated disease: SHUKLA-VERNON SYNDROME (OMIM:301029)
Gene: BCORL1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SHUKLA-VERNON SYNDROME (OMIM:301029)
Gene: BCORL1
Phenotype: Seizure (HP:0001250)
Associated disease: SHUKLA-VERNON SYNDROME (OMIM:301029)
Gene: BCORL1
Phenotype: Hypotonia (HP:0001252)
Associated disease: SHUKLA-VERNON SYNDROME (OMIM:301029)
Gene: BCORL1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SHUKLA-VERNON SYNDROME (OMIM:301029)
Gene: BCORL1
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: SHUKLA-VERNON SYNDROME (OMIM:301029)
Gene: BCORL1
Phenotype: Broad-based gait (HP:0002136)
Associated disease: SHUKLA-VERNON SYNDROME (OMIM:301029)
Gene: BCORL1
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: SHUKLA-VERNON SYNDROME (OMIM:301029)
Gene: BCORL1
Phenotype: Infantile onset (HP:0003593)
Associated disease: SHUKLA-VERNON SYNDROME (OMIM:301029)
Gene: BCORL1
Phenotype: Impulsivity (HP:0100710)
Associated disease: SHUKLA-VERNON SYNDROME (OMIM:301029)
Gene: BCORL1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: SHUKLA-VERNON SYNDROME (OMIM:301029)
Gene: BCORL1
Phenotype: Drooling (HP:0002307)
Associated disease: SHUKLA-VERNON SYNDROME (OMIM:301029)
Gene: BCORL1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: SHUKLA-VERNON SYNDROME (OMIM:301029)
Gene: BCORL1
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: SHUKLA-VERNON SYNDROME (OMIM:301029)
Gene: BCORL1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: SHUKLA-VERNON SYNDROME (OMIM:301029)
Gene: BCORL1
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: SHUKLA-VERNON SYNDROME (OMIM:301029)
Gene: BCORL1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: SHUKLA-VERNON SYNDROME (OMIM:301029)
Gene: BCORL1
Phenotype: Wide nasal base (HP:0012810)
Associated disease: SHUKLA-VERNON SYNDROME (OMIM:301029)
Gene: BCORL1
Phenotype: Sparse hair (HP:0008070)
Associated disease: SHUKLA-VERNON SYNDROME (OMIM:301029)
Gene: BCORL1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: SHUKLA-VERNON SYNDROME (OMIM:301029)
Gene: BCORL1
Phenotype: Long face (HP:0000276)
Associated disease: SHUKLA-VERNON SYNDROME (OMIM:301029)
Gene: BCORL1
Phenotype: High forehead (HP:0000348)
Associated disease: SHUKLA-VERNON SYNDROME (OMIM:301029)
Gene: BCORL1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: SHUKLA-VERNON SYNDROME (OMIM:301029)
Gene: BCORL1
Phenotype: Strabismus (HP:0000486)
Associated disease: SHUKLA-VERNON SYNDROME (OMIM:301029)
Gene: BCORL1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: SHUKLA-VERNON SYNDROME (OMIM:301029)
Gene: BCORL1
Phenotype: Exotropia (HP:0000577)
Associated disease: SHUKLA-VERNON SYNDROME (OMIM:301029)
Gene: CELA2A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ABDOMINAL OBESITY-METABOLIC SYNDROME 4 (OMIM:618620)
Gene: CELA2A
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: ABDOMINAL OBESITY-METABOLIC SYNDROME 4 (OMIM:618620)
Gene: CELA2A
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: ABDOMINAL OBESITY-METABOLIC SYNDROME 4 (OMIM:618620)
Gene: CELA2A
Phenotype: Accelerated atherosclerosis (HP:0004943)
Associated disease: ABDOMINAL OBESITY-METABOLIC SYNDROME 4 (OMIM:618620)
Gene: CELA2A
Phenotype: Increased LDL cholesterol concentration (HP:0003141)
Associated disease: ABDOMINAL OBESITY-METABOLIC SYNDROME 4 (OMIM:618620)
Gene: CELA2A
Phenotype: Hypertension (HP:0000822)
Associated disease: ABDOMINAL OBESITY-METABOLIC SYNDROME 4 (OMIM:618620)
Gene: CELA2A
Phenotype: Decreased HDL cholesterol concentration (HP:0003233)
Associated disease: ABDOMINAL OBESITY-METABOLIC SYNDROME 4 (OMIM:618620)
Gene: CELA2A
Phenotype: Elevated hemoglobin A1c (HP:0040217)
Associated disease: ABDOMINAL OBESITY-METABOLIC SYNDROME 4 (OMIM:618620)
Gene: CELA2A
Phenotype: Obesity (HP:0001513)
Associated disease: ABDOMINAL OBESITY-METABOLIC SYNDROME 4 (OMIM:618620)
Gene: CELA2A
Phenotype: Coronary artery atherosclerosis (HP:0001677)
Associated disease: ABDOMINAL OBESITY-METABOLIC SYNDROME 4 (OMIM:618620)
Gene: CELA2A
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: ABDOMINAL OBESITY-METABOLIC SYNDROME 4 (OMIM:618620)
Gene: VIPAS39
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 (OMIM:613404)
Gene: VIPAS39
Phenotype: Hypotonia (HP:0001252)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 (OMIM:613404)
Gene: VIPAS39
Phenotype: Hypotonia (HP:0001252)
Associated disease: Arthrogryposis-renal dysfunction-cholestasis syndrome; ARC syndrome (ORPHA:2697)
Gene: VIPAS39
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Arthrogryposis-renal dysfunction-cholestasis syndrome; ARC syndrome (ORPHA:2697)
Gene: VIPAS39
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 (OMIM:613404)
Gene: VIPAS39
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: Arthrogryposis-renal dysfunction-cholestasis syndrome; ARC syndrome (ORPHA:2697)
Gene: VIPAS39
Phenotype: Proteinuria (HP:0000093)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 (OMIM:613404)
Gene: VIPAS39
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 (OMIM:613404)
Gene: VIPAS39
Phenotype: Congenital bilateral hip dislocation (HP:0008780)
Associated disease: Arthrogryposis-renal dysfunction-cholestasis syndrome; ARC syndrome (ORPHA:2697)
Gene: VIPAS39
Phenotype: Lissencephaly (HP:0001339)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 (OMIM:613404)
Gene: VIPAS39
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 (OMIM:613404)
Gene: VIPAS39
Phenotype: Cholestatic liver disease (HP:0002611)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 (OMIM:613404)
Gene: VIPAS39
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: Arthrogryposis-renal dysfunction-cholestasis syndrome; ARC syndrome (ORPHA:2697)
Gene: VIPAS39
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 (OMIM:613404)
Gene: VIPAS39
Phenotype: Renal tubular dysfunction (HP:0000124)
Associated disease: Arthrogryposis-renal dysfunction-cholestasis syndrome; ARC syndrome (ORPHA:2697)
Gene: VIPAS39
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: Arthrogryposis-renal dysfunction-cholestasis syndrome; ARC syndrome (ORPHA:2697)
Gene: VIPAS39
Phenotype: Nephropathy (HP:0000112)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 (OMIM:613404)
Gene: VIPAS39
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Arthrogryposis-renal dysfunction-cholestasis syndrome; ARC syndrome (ORPHA:2697)
Gene: VIPAS39
Phenotype: Aminoaciduria (HP:0003355)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 (OMIM:613404)
Gene: VIPAS39
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: Arthrogryposis-renal dysfunction-cholestasis syndrome; ARC syndrome (ORPHA:2697)
Gene: VIPAS39
Phenotype: Elevated gamma-glutamyltransferase level (HP:0030948)
Associated disease: Arthrogryposis-renal dysfunction-cholestasis syndrome; ARC syndrome (ORPHA:2697)
Gene: VIPAS39
Phenotype: Abnormal platelet count (HP:0011873)
Associated disease: Arthrogryposis-renal dysfunction-cholestasis syndrome; ARC syndrome (ORPHA:2697)
Gene: VIPAS39
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 (OMIM:613404)
Gene: VIPAS39
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Arthrogryposis-renal dysfunction-cholestasis syndrome; ARC syndrome (ORPHA:2697)
Gene: VIPAS39
Phenotype: Giant cell hepatitis (HP:0200084)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 (OMIM:613404)
Gene: VIPAS39
Phenotype: Nephrogenic diabetes insipidus (HP:0009806)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 (OMIM:613404)
Gene: VIPAS39
Phenotype: Nephrogenic diabetes insipidus (HP:0009806)
Associated disease: Arthrogryposis-renal dysfunction-cholestasis syndrome; ARC syndrome (ORPHA:2697)
Gene: VIPAS39
Phenotype: Neonatal onset (HP:0003623)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 (OMIM:613404)
Gene: VIPAS39
Phenotype: Renal tubular acidosis (HP:0001947)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 (OMIM:613404)
Gene: VIPAS39
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 (OMIM:613404)
Gene: VIPAS39
Phenotype: Renal Fanconi syndrome (HP:0001994)
Associated disease: Arthrogryposis-renal dysfunction-cholestasis syndrome; ARC syndrome (ORPHA:2697)
Gene: VIPAS39
Phenotype: Glycosuria (HP:0003076)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 (OMIM:613404)
Gene: VIPAS39
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Arthrogryposis-renal dysfunction-cholestasis syndrome; ARC syndrome (ORPHA:2697)
Gene: VIPAS39
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Arthrogryposis-renal dysfunction-cholestasis syndrome; ARC syndrome (ORPHA:2697)
Gene: VIPAS39
Phenotype: Cutis laxa (HP:0000973)
Associated disease: Arthrogryposis-renal dysfunction-cholestasis syndrome; ARC syndrome (ORPHA:2697)
Gene: VIPAS39
Phenotype: Pruritus (HP:0000989)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 (OMIM:613404)
Gene: VIPAS39
Phenotype: Jaundice (HP:0000952)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 (OMIM:613404)
Gene: VIPAS39
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Arthrogryposis-renal dysfunction-cholestasis syndrome; ARC syndrome (ORPHA:2697)
Gene: VIPAS39
Phenotype: Osteopenia (HP:0000938)
Associated disease: Arthrogryposis-renal dysfunction-cholestasis syndrome; ARC syndrome (ORPHA:2697)
Gene: VIPAS39
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Arthrogryposis-renal dysfunction-cholestasis syndrome; ARC syndrome (ORPHA:2697)
Gene: VIPAS39
Phenotype: Ichthyosis (HP:0008064)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 (OMIM:613404)
Gene: VIPAS39
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: Arthrogryposis-renal dysfunction-cholestasis syndrome; ARC syndrome (ORPHA:2697)
Gene: VIPAS39
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 (OMIM:613404)
Gene: VIPAS39
Phenotype: Microcephaly (HP:0000252)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 (OMIM:613404)
Gene: VIPAS39
Phenotype: Microcephaly (HP:0000252)
Associated disease: Arthrogryposis-renal dysfunction-cholestasis syndrome; ARC syndrome (ORPHA:2697)
Gene: VIPAS39
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Arthrogryposis-renal dysfunction-cholestasis syndrome; ARC syndrome (ORPHA:2697)
Gene: VIPAS39
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Arthrogryposis-renal dysfunction-cholestasis syndrome; ARC syndrome (ORPHA:2697)
Gene: VIPAS39
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: Arthrogryposis-renal dysfunction-cholestasis syndrome; ARC syndrome (ORPHA:2697)
Gene: VIPAS39
Phenotype: Death in infancy (HP:0001522)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 (OMIM:613404)
Gene: VIPAS39
Phenotype: Failure to thrive (HP:0001508)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 (OMIM:613404)
Gene: VIPAS39
Phenotype: Intrahepatic biliary atresia (HP:0005248)
Associated disease: Arthrogryposis-renal dysfunction-cholestasis syndrome; ARC syndrome (ORPHA:2697)
Gene: VIPAS39
Phenotype: Neonatal cholestatic liver disease (HP:0006566)
Associated disease: Arthrogryposis-renal dysfunction-cholestasis syndrome; ARC syndrome (ORPHA:2697)