TaoMedAI/RareMedData huggingface dataset:
Gene: EOGT
Phenotype: Abnormal metacarpal morphology (HP:0005916)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: EOGT
Phenotype: Porencephalic cyst (HP:0002132)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: EOGT
Phenotype: Congenital onset (HP:0003577)
Associated disease: ADAMS-OLIVER SYNDROME 4 (OMIM:615297)
Gene: EOGT
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: EOGT
Phenotype: Toenail dysplasia (HP:0100797)
Associated disease: ADAMS-OLIVER SYNDROME 4 (OMIM:615297)
Gene: EOGT
Phenotype: Aplasia of the distal phalanges of the toes (HP:0010645)
Associated disease: ADAMS-OLIVER SYNDROME 4 (OMIM:615297)
Gene: EOGT
Phenotype: Aplastic/hypoplastic toenail (HP:0010624)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: EOGT
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EOGT
Phenotype: Aplasia cutis congenita (HP:0001057)
Associated disease: ADAMS-OLIVER SYNDROME 4 (OMIM:615297)
Gene: EOGT
Phenotype: Aplasia cutis congenita (HP:0001057)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: EOGT
Phenotype: EEG abnormality (HP:0002353)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: EOGT
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EOGT
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EOGT
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EOGT
Phenotype: Absent toe (HP:0010760)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: EOGT
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EOGT
Phenotype: Pulmonary artery atresia (HP:0004935)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: EOGT
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EOGT
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EOGT
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EOGT
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EOGT
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EOGT
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EOGT
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EOGT
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EOGT
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EOGT
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EOGT
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EOGT
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EOGT
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EOGT
Phenotype: Periventricular leukomalacia (HP:0006970)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: EOGT
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EOGT
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EOGT
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EOGT
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EOGT
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EOGT
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EOGT
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EOGT
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EOGT
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EOGT
Phenotype: Arteriovenous malformation (HP:0100026)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: EOGT
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EOGT
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EOGT
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EOGT
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EOGT
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EOGT
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EOGT
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EOGT
Phenotype: Absent middle phalanx of the 3rd toe (HP:0100381)
Associated disease: ADAMS-OLIVER SYNDROME 4 (OMIM:615297)
Gene: EOGT
Phenotype: Aplasia of the middle phalanx of the 4th toe (HP:0100382)
Associated disease: ADAMS-OLIVER SYNDROME 4 (OMIM:615297)
Gene: EOGT
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EOGT
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EOGT
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EOGT
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EOGT
Phenotype: Cutis marmorata (HP:0000965)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: EOGT
Phenotype: Cutis marmorata (HP:0000965)
Associated disease: ADAMS-OLIVER SYNDROME 4 (OMIM:615297)
Gene: EOGT
Phenotype: Sparse hair (HP:0008070)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: EOGT
Phenotype: Aplasia/Hypoplasia of the skin (HP:0008065)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: EOGT
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EOGT
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EOGT
Phenotype: Alopecia (HP:0001596)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: EOGT
Phenotype: Abnormality of the upper limb (HP:0002817)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: EOGT
Phenotype: Abnormality of the lower limb (HP:0002814)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: EOGT
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EOGT
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: EOGT
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EOGT
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EOGT
Phenotype: Ascites (HP:0001541)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: EOGT
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: ADAMS-OLIVER SYNDROME 4 (OMIM:615297)
Gene: EOGT
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EOGT
Phenotype: Failure to thrive (HP:0001508)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: EOGT
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EOGT
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EOGT
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EOGT
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EOGT
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EOGT
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EOGT
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EOGT
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: ADAMS-OLIVER SYNDROME 4 (OMIM:615297)
Gene: EOGT
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EOGT
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: ADAMS-OLIVER SYNDROME 4 (OMIM:615297)
Gene: EOGT
Phenotype: Premature birth (HP:0001622)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: EOGT
Phenotype: Abnormal pulmonary valve morphology (HP:0001641)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: EOGT
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EOGT
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: EOGT
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: ADAMS-OLIVER SYNDROME 4 (OMIM:615297)
Gene: EOGT
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EOGT
Phenotype: Absent hand (HP:0004050)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: EOGT
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EOGT
Phenotype: Strabismus (HP:0000486)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: EOGT
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EOGT
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EOGT
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EOGT
Phenotype: Cataract (HP:0000518)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: EOGT
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EOGT
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EOGT
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EOGT
Phenotype: Short toe (HP:0001831)
Associated disease: ADAMS-OLIVER SYNDROME 4 (OMIM:615297)
Gene: EOGT
Phenotype: Hypoplastic fingernail (HP:0001804)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: EOGT
Phenotype: Hypoplastic toenails (HP:0001800)
Associated disease: ADAMS-OLIVER SYNDROME 4 (OMIM:615297)
Gene: EOGT
Phenotype: Absent fingernail (HP:0001817)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: EOGT
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EOGT
Phenotype: Microphthalmia (HP:0000568)
Associated disease: ADAMS-OLIVER SYNDROME 4 (OMIM:615297)
Gene: EOGT
Phenotype: Microphthalmia (HP:0000568)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: EOGT
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EOGT
Phenotype: Talipes (HP:0001883)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: EOGT
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: EOGT
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EOGT
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: RABL3
Phenotype: Ovarian carcinoma (HP:0025318)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: RABL3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PANCREATIC CANCER, SUSCEPTIBILITY TO, 5 (OMIM:618680)
Gene: RABL3
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: RABL3
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: RABL3
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: RABL3
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: RABL3
Phenotype: Anorexia (HP:0002039)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: RABL3
Phenotype: Peritoneal abscess (HP:0100592)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: RABL3
Phenotype: Back pain (HP:0003418)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: RABL3
Phenotype: Intermittent diarrhea (HP:0002254)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: RABL3
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: RABL3
Phenotype: Colon cancer (HP:0003003)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: RABL3
Phenotype: Intestinal pseudo-obstruction (HP:0004389)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: RABL3
Phenotype: Poor appetite (HP:0004396)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: RABL3
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: RABL3
Phenotype: Jaundice (HP:0000952)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: RABL3
Phenotype: Neoplasm of the liver (HP:0002896)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: RABL3
Phenotype: Melanoma (HP:0002861)
Associated disease: PANCREATIC CANCER, SUSCEPTIBILITY TO, 5 (OMIM:618680)
Gene: RABL3
Phenotype: Melanoma (HP:0002861)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: RABL3
Phenotype: Functional intestinal obstruction (HP:0005249)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: RABL3
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: RABL3
Phenotype: Extrahepatic cholestasis (HP:0012334)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: RABL3
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: RABL3
Phenotype: Chronic fatigue (HP:0012432)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: RABL3
Phenotype: Pancreatic adenocarcinoma (HP:0006725)
Associated disease: PANCREATIC CANCER, SUSCEPTIBILITY TO, 5 (OMIM:618680)
Gene: RABL3
Phenotype: Pancreatic adenocarcinoma (HP:0006725)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: RABL3
Phenotype: Weight loss (HP:0001824)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: SUMF1
Phenotype: Rapid neurologic deterioration (HP:0007307)
Associated disease: Multiple sulfatase deficiency; MSD; Austin disease; Mucosulfatidosis (ORPHA:585)
Gene: SUMF1
Phenotype: Rapid neurologic deterioration (HP:0007307)
Associated disease: MULTIPLE SULFATASE DEFICIENCY (OMIM:272200)
Gene: SUMF1
Phenotype: CNS demyelination (HP:0007305)
Associated disease: MULTIPLE SULFATASE DEFICIENCY (OMIM:272200)
Gene: SUMF1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SUMF1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SUMF1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: MULTIPLE SULFATASE DEFICIENCY (OMIM:272200)
Gene: SUMF1
Phenotype: Seizure (HP:0001250)
Associated disease: Multiple sulfatase deficiency; MSD; Austin disease; Mucosulfatidosis (ORPHA:585)
Gene: SUMF1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)