TaoMedAI/RareMedData huggingface dataset:
Gene: MMEL1
Phenotype: Increased circulating IgM level (HP:0003496)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: MMEL1
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: MMEL1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: MMEL1
Phenotype: Dermatographic urticaria (HP:0011971)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: MMEL1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: MMEL1
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: MMEL1
Phenotype: Gastrointestinal inflammation (HP:0004386)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: MMEL1
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: MMEL1
Phenotype: Abnormal circulating lipid concentration (HP:0003119)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: MMEL1
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: MMEL1
Phenotype: Abnormality of the thyroid gland (HP:0000820)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: MMEL1
Phenotype: Abdominal distention (HP:0003270)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: MMEL1
Phenotype: Increased circulating IgA concentration (HP:0003261)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: MMEL1
Phenotype: Pruritus (HP:0000989)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: MMEL1
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: MMEL1
Phenotype: Jaundice (HP:0000952)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: MMEL1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: MMEL1
Phenotype: Onychomycosis (HP:0012203)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: MMEL1
Phenotype: Ascites (HP:0001541)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: MMEL1
Phenotype: Recurrent fungal infections (HP:0002841)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: MMEL1
Phenotype: Fatigue (HP:0012378)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: MMEL1
Phenotype: Abnormal intrahepatic bile duct morphology (HP:0011040)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: MMEL1
Phenotype: Conjugated hyperbilirubinemia (HP:0002908)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: MMEL1
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: MMEL1
Phenotype: Antimitochondrial antibody positivity (HP:0030167)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: MMEL1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: CYBC1
Phenotype: Granuloma (HP:0032252)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5 (OMIM:618935)
Gene: CYBC1
Phenotype: Sepsis (HP:0100806)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: CYBC1
Phenotype: Meningitis (HP:0001287)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: CYBC1
Phenotype: Tracheoesophageal fistula (HP:0002575)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: CYBC1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5 (OMIM:618935)
Gene: CYBC1
Phenotype: Oral ulcer (HP:0000155)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5 (OMIM:618935)
Gene: CYBC1
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5 (OMIM:618935)
Gene: CYBC1
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5 (OMIM:618935)
Gene: CYBC1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5 (OMIM:618935)
Gene: CYBC1
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5 (OMIM:618935)
Gene: CYBC1
Phenotype: Malabsorption (HP:0002024)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: CYBC1
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: CYBC1
Phenotype: Liver abscess (HP:0100523)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: CYBC1
Phenotype: Inflammatory abnormality of the eye (HP:0100533)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: CYBC1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: CYBC1
Phenotype: Pleural effusion (HP:0002202)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5 (OMIM:618935)
Gene: CYBC1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: CYBC1
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5 (OMIM:618935)
Gene: CYBC1
Phenotype: Mediastinal lymphadenopathy (HP:0100721)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: CYBC1
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: CYBC1
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: CYBC1
Phenotype: Perianal abscess (HP:0009789)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5 (OMIM:618935)
Gene: CYBC1
Phenotype: Fever (HP:0001945)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: CYBC1
Phenotype: Fever (HP:0001945)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5 (OMIM:618935)
Gene: CYBC1
Phenotype: Short stature (HP:0004322)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5 (OMIM:618935)
Gene: CYBC1
Phenotype: Macule (HP:0012733)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: CYBC1
Phenotype: Decreased neutrophil oxidative burst (HP:0003203)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5 (OMIM:618935)
Gene: CYBC1
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: CYBC1
Phenotype: Crohn's disease (HP:0100280)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5 (OMIM:618935)
Gene: CYBC1
Phenotype: Ulcerative colitis (HP:0100279)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5 (OMIM:618935)
Gene: CYBC1
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: CYBC1
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5 (OMIM:618935)
Gene: CYBC1
Phenotype: Sinusitis (HP:0000246)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: CYBC1
Phenotype: Onychomycosis (HP:0012203)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5 (OMIM:618935)
Gene: CYBC1
Phenotype: Gingivitis (HP:0000230)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: CYBC1
Phenotype: Lymphadenitis (HP:0002840)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5 (OMIM:618935)
Gene: CYBC1
Phenotype: Chronic pulmonary obstruction (HP:0006510)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: CYBC1
Phenotype: Anal fissure (HP:0012390)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5 (OMIM:618935)
Gene: CYBC1
Phenotype: Otitis media (HP:0000388)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: CYBC1
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5 (OMIM:618935)
Gene: CYBC1
Phenotype: Rheumatoid factor positive (HP:0002923)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5 (OMIM:618935)
Gene: CYBC1
Phenotype: Abscess (HP:0025615)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5 (OMIM:618935)
Gene: CYBC1
Phenotype: Acute pancreatitis (HP:0001735)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5 (OMIM:618935)
Gene: CYBC1
Phenotype: Recurrent tonsillitis (HP:0011110)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5 (OMIM:618935)
Gene: CYBC1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: CYBC1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5 (OMIM:618935)
Gene: CYBC1
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5 (OMIM:618935)
Gene: CYBC1
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5 (OMIM:618935)
Gene: CYBC1
Phenotype: Abnormality of neutrophils (HP:0001874)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: FYCO1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CATARACT 18 (OMIM:610019)
Gene: FYCO1
Phenotype: Infantile onset (HP:0003593)
Associated disease: CATARACT 18 (OMIM:610019)
Gene: FYCO1
Phenotype: Congenital onset (HP:0003577)
Associated disease: CATARACT 18 (OMIM:610019)
Gene: FYCO1
Phenotype: Nuclear cataract (HP:0100018)
Associated disease: CATARACT 18 (OMIM:610019)
Gene: ATP13A3
Phenotype: Syncope (HP:0001279)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 5 (OMIM:265400)
Gene: ATP13A3
Phenotype: Muscle weakness (HP:0001324)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 5 (OMIM:265400)
Gene: ATP13A3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 5 (OMIM:265400)
Gene: ATP13A3
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 5 (OMIM:265400)
Gene: ATP13A3
Phenotype: Easy fatigability (HP:0003388)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 5 (OMIM:265400)
Gene: ATP13A3
Phenotype: Infantile onset (HP:0003593)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 5 (OMIM:265400)
Gene: ATP13A3
Phenotype: Neonatal onset (HP:0003623)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 5 (OMIM:265400)
Gene: ATP13A3
Phenotype: Childhood onset (HP:0011463)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 5 (OMIM:265400)
Gene: ATP13A3
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 5 (OMIM:265400)
Gene: ATP13A3
Phenotype: Fatigue (HP:0012378)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 5 (OMIM:265400)
Gene: ATP13A3
Phenotype: Right ventricular hypertrophy (HP:0001667)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 5 (OMIM:265400)
Gene: ATP13A3
Phenotype: Angina pectoris (HP:0001681)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 5 (OMIM:265400)
Gene: ATP13A3
Phenotype: Right ventricular failure (HP:0001708)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 5 (OMIM:265400)
Gene: EPS8L3
Phenotype: Absent pubic hair (HP:0002555)
Associated disease: HYPOTRICHOSIS 5 (OMIM:612841)
Gene: EPS8L3
Phenotype: Aplasia/Hypoplasia of the eyebrow (HP:0100840)
Associated disease: Marie Unna congenital hypotrichosis; Marie Unna hereditary hypotrichosis; MUHH; Hypotrichosis, Marie Unna type (ORPHA:444)
Gene: EPS8L3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPOTRICHOSIS 5 (OMIM:612841)
Gene: EPS8L3
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: HYPOTRICHOSIS 5 (OMIM:612841)
Gene: EPS8L3
Phenotype: Congenital onset (HP:0003577)
Associated disease: HYPOTRICHOSIS 5 (OMIM:612841)
Gene: EPS8L3
Phenotype: Absent axillary hair (HP:0002221)
Associated disease: HYPOTRICHOSIS 5 (OMIM:612841)
Gene: EPS8L3
Phenotype: Sparse or absent eyelashes (HP:0200102)
Associated disease: Marie Unna congenital hypotrichosis; Marie Unna hereditary hypotrichosis; MUHH; Hypotrichosis, Marie Unna type (ORPHA:444)
Gene: EPS8L3
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Marie Unna congenital hypotrichosis; Marie Unna hereditary hypotrichosis; MUHH; Hypotrichosis, Marie Unna type (ORPHA:444)
Gene: EPS8L3
Phenotype: Coarse hair (HP:0002208)
Associated disease: Marie Unna congenital hypotrichosis; Marie Unna hereditary hypotrichosis; MUHH; Hypotrichosis, Marie Unna type (ORPHA:444)
Gene: EPS8L3
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: HYPOTRICHOSIS 5 (OMIM:612841)
Gene: EPS8L3
Phenotype: Thin eyebrow (HP:0045074)
Associated disease: HYPOTRICHOSIS 5 (OMIM:612841)
Gene: EPS8L3
Phenotype: Abnormal sweat gland morphology (HP:0000971)
Associated disease: HYPOTRICHOSIS 5 (OMIM:612841)
Gene: EPS8L3
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: HYPOTRICHOSIS 5 (OMIM:612841)
Gene: EPS8L3
Phenotype: Alopecia (HP:0001596)
Associated disease: Marie Unna congenital hypotrichosis; Marie Unna hereditary hypotrichosis; MUHH; Hypotrichosis, Marie Unna type (ORPHA:444)
Gene: EPS8L3
Phenotype: Alopecia (HP:0001596)
Associated disease: HYPOTRICHOSIS 5 (OMIM:612841)
Gene: EPS8L3
Phenotype: Hearing abnormality (HP:0000364)
Associated disease: HYPOTRICHOSIS 5 (OMIM:612841)
Gene: NKAP
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE (OMIM:301039)
Gene: NKAP
Phenotype: Hypotonia (HP:0001252)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE (OMIM:301039)
Gene: NKAP
Phenotype: Global developmental delay (HP:0001263)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE (OMIM:301039)
Gene: NKAP
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE (OMIM:301039)
Gene: NKAP
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE (OMIM:301039)
Gene: NKAP
Phenotype: Scoliosis (HP:0002650)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE (OMIM:301039)
Gene: NKAP
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE (OMIM:301039)
Gene: NKAP
Phenotype: Open mouth (HP:0000194)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE (OMIM:301039)
Gene: NKAP
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE (OMIM:301039)
Gene: NKAP
Phenotype: Midface retrusion (HP:0011800)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE (OMIM:301039)
Gene: NKAP
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE (OMIM:301039)
Gene: NKAP
Phenotype: Abdominal obesity (HP:0012743)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE (OMIM:301039)
Gene: NKAP
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE (OMIM:301039)
Gene: NKAP
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE (OMIM:301039)
Gene: NKAP
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE (OMIM:301039)
Gene: NKAP
Phenotype: Long face (HP:0000276)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE (OMIM:301039)
Gene: NKAP
Phenotype: Disproportionate tall stature (HP:0001519)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE (OMIM:301039)
Gene: NKAP
Phenotype: Camptodactyly (HP:0012385)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE (OMIM:301039)
Gene: NKAP
Phenotype: Short philtrum (HP:0000322)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE (OMIM:301039)
Gene: NKAP
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE (OMIM:301039)
Gene: NKAP
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE (OMIM:301039)
Gene: NKAP
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE (OMIM:301039)
Gene: NKAP
Phenotype: Protruding ear (HP:0000411)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE (OMIM:301039)
Gene: NKAP
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE (OMIM:301039)
Gene: CDC73
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC73
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC73
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC73
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC73
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC73
Phenotype: Episodic abdominal pain (HP:0002574)
Associated disease: HPT-JT; Hyperparathyroidism-jaw tumor syndrome (ORPHA:99880)
Gene: CDC73
Phenotype: Episodic abdominal pain (HP:0002574)
Associated disease: Parathyroid carcinoma (ORPHA:143)
Gene: CDC73
Phenotype: Renal hamartoma (HP:0008696)
Associated disease: Parathyroid carcinoma (ORPHA:143)
Gene: CDC73
Phenotype: Renal hamartoma (HP:0008696)
Associated disease: HPT-JT; Hyperparathyroidism-jaw tumor syndrome (ORPHA:99880)
Gene: CDC73
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC73
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Parathyroid carcinoma (ORPHA:143)
Gene: CDC73
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: HPT-JT; Hyperparathyroidism-jaw tumor syndrome (ORPHA:99880)
Gene: CDC73
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Familial isolated hyperparathyroidism; FIHPT (ORPHA:99879)
Gene: CDC73
Phenotype: Lipoma (HP:0012032)
Associated disease: Parathyroid carcinoma (ORPHA:143)
Gene: CDC73
Phenotype: Lipoma (HP:0012032)
Associated disease: HPT-JT; Hyperparathyroidism-jaw tumor syndrome (ORPHA:99880)
Gene: CDC73
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC73
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC73
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC73
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC73
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Parathyroid carcinoma (ORPHA:143)
Gene: CDC73
Phenotype: Muscle weakness (HP:0001324)
Associated disease: HPT-JT; Hyperparathyroidism-jaw tumor syndrome (ORPHA:99880)
Gene: CDC73
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC73
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC73
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC73
Phenotype: Nephroblastoma (HP:0002667)
Associated disease: Parathyroid carcinoma (ORPHA:143)
Gene: CDC73
Phenotype: Nephroblastoma (HP:0002667)
Associated disease: HYPERPARATHYROIDISM 2 WITH JAW TUMORS (OMIM:145001)
Gene: CDC73
Phenotype: Nephroblastoma (HP:0002667)
Associated disease: HPT-JT; Hyperparathyroidism-jaw tumor syndrome (ORPHA:99880)
Gene: CDC73
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPERPARATHYROIDISM 1 (OMIM:145000)
Gene: CDC73
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPERPARATHYROIDISM 2 WITH JAW TUMORS (OMIM:145001)
Gene: CDC73
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC73
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PARATHYROID CARCINOMA (OMIM:608266)
Gene: CDC73
Phenotype: Bone pain (HP:0002653)
Associated disease: Parathyroid carcinoma (ORPHA:143)
Gene: CDC73
Phenotype: Bone pain (HP:0002653)
Associated disease: HPT-JT; Hyperparathyroidism-jaw tumor syndrome (ORPHA:99880)
Gene: CDC73
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC73
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC73
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC73
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC73
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)