TaoMedAI/RareMedData huggingface dataset:
Gene: CCDC8
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCDC8
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC8
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CCDC8
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC8
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CCDC8
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC8
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BRIP1
Phenotype: Abnormal thumb morphology (HP:0001172)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Triphalangeal thumb (HP:0001199)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Spina bifida (HP:0002414)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J (OMIM:609054)
Gene: BRIP1
Phenotype: Tracheoesophageal fistula (HP:0002575)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Irregular hyperpigmentation (HP:0007400)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Duodenal stenosis (HP:0100867)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Renal hypoplasia/aplasia (HP:0008678)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Abnormality of the urinary system (HP:0000079)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Hydroureter (HP:0000072)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Decreased fertility in males (HP:0012041)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Hypospadias (HP:0000047)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Abnormal testis morphology (HP:0000035)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Azoospermia (HP:0000027)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Multiple cafe-au-lait spots (HP:0007565)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Multiple cafe-au-lait spots (HP:0007565)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J (OMIM:609054)
Gene: BRIP1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J (OMIM:609054)
Gene: BRIP1
Phenotype: Neoplasm (HP:0002664)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J (OMIM:609054)
Gene: BRIP1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BREAST CANCER (OMIM:114480)
Gene: BRIP1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Prostate cancer (HP:0012125)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: BRIP1
Phenotype: Hypogonadism (HP:0000135)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Aplasia/Hypoplasia of fingers (HP:0006265)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Abnormality of the uterus (HP:0000130)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: BREAST CANCER (OMIM:114480)
Gene: BRIP1
Phenotype: Anal atresia (HP:0002023)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Abnormal localization of kidney (HP:0100542)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Abnormal preputium morphology (HP:0100587)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Absent testis (HP:0010469)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Meckel diverticulum (HP:0002245)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Clubbing of toes (HP:0100760)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Ovarian neoplasm (HP:0100615)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: BRIP1
Phenotype: Short thumb (HP:0009778)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J (OMIM:609054)
Gene: BRIP1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J (OMIM:609054)
Gene: BRIP1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Pyridoxine-responsive sideroblastic anemia (HP:0005522)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Anemia (HP:0001903)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Abnormal nervous system morphology (HP:0012639)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Short stature (HP:0004322)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: BREAST CANCER (OMIM:114480)
Gene: BRIP1
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: BRIP1
Phenotype: Hypoplasia of the ulna (HP:0003022)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Arteriovenous malformation (HP:0100026)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Abnormality of the hypothalamus-pituitary axis (HP:0000864)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Bicornuate uterus (HP:0000813)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Aplasia/Hypoplasia of the uvula (HP:0010293)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Abnormal morphology of ulna (HP:0040071)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Abnormality of chromosome stability (HP:0003220)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Chromosomal breakage induced by crosslinking agents (HP:0003221)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J (OMIM:609054)
Gene: BRIP1
Phenotype: Aplasia/Hypoplasia of the iris (HP:0008053)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Epicanthus (HP:0000286)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Abnormality of the upper limb (HP:0002817)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Abnormal femur morphology (HP:0002823)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Abnormal renal morphology (HP:0012210)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: High palate (HP:0000218)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Neoplasm of the pancreas (HP:0002894)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: BRIP1
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Melanoma (HP:0002861)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: BRIP1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J (OMIM:609054)
Gene: BRIP1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Growth delay (HP:0001510)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Aplasia/Hypoplasia of the radius (HP:0006501)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Abnormal fallopian tube morphology (HP:0011027)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: BRIP1
Phenotype: Almond-shaped palpebral fissure (HP:0007874)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Hearing abnormality (HP:0000364)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Abnormal aortic morphology (HP:0001679)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Abnormal aortic valve morphology (HP:0001646)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Abnormal carotid artery morphology (HP:0005344)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Astigmatism (HP:0000483)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Strabismus (HP:0000486)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Abnormal eyelid morphology (HP:0000492)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Pes planus (HP:0001763)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Choanal atresia (HP:0000453)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Primary peritoneal carcinoma (HP:0030406)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: BRIP1
Phenotype: Cataract (HP:0000518)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Proptosis (HP:0000520)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Weight loss (HP:0001824)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Ptosis (HP:0000508)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Visual impairment (HP:0000505)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J (OMIM:609054)
Gene: BRIP1
Phenotype: Abnormality of blood and blood-forming tissues (HP:0001871)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRIP1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: KREMEN1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE (OMIM:617392)
Gene: KREMEN1
Phenotype: Brittle hair (HP:0002299)
Associated disease: ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE (OMIM:617392)
Gene: KREMEN1
Phenotype: Oligodontia (HP:0000677)
Associated disease: ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE (OMIM:617392)
Gene: KREMEN1
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE (OMIM:617392)
Gene: KREMEN1
Phenotype: Thin eyebrow (HP:0045074)
Associated disease: ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE (OMIM:617392)
Gene: KREMEN1
Phenotype: Ectodermal dysplasia (HP:0000968)
Associated disease: ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE (OMIM:617392)
Gene: KREMEN1
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE (OMIM:617392)
Gene: KREMEN1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE (OMIM:617392)
Gene: KREMEN1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE (OMIM:617392)
Gene: KREMEN1
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE (OMIM:617392)
Gene: KREMEN1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE (OMIM:617392)
Gene: KREMEN1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE (OMIM:617392)
Gene: OBSCN
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: RHABDOMYOLYSIS, SUSCEPTIBILITY TO, 1 (OMIM:620235)
Gene: OBSCN
Phenotype: Abnormality of glycolipid metabolism (HP:0010969)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: OBSCN
Phenotype: Exercise-induced myalgia (HP:0003738)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: OBSCN
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: OBSCN
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: OBSCN
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: OBSCN
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: RHABDOMYOLYSIS, SUSCEPTIBILITY TO, 1 (OMIM:620235)
Gene: OBSCN
Phenotype: Abnormal circulating acylcarnitine concentration (HP:0012071)
Associated disease: RHABDOMYOLYSIS, SUSCEPTIBILITY TO, 1 (OMIM:620235)
Gene: OBSCN
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: OBSCN
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RHABDOMYOLYSIS, SUSCEPTIBILITY TO, 1 (OMIM:620235)
Gene: OBSCN
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: OBSCN
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: OBSCN
Phenotype: Proximal muscle weakness in upper limbs (HP:0008997)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: OBSCN
Phenotype: Dark urine (HP:0040319)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: OBSCN
Phenotype: Myalgia (HP:0003326)
Associated disease: RHABDOMYOLYSIS, SUSCEPTIBILITY TO, 1 (OMIM:620235)
Gene: OBSCN
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: OBSCN
Phenotype: Oliguria (HP:0100520)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: OBSCN
Phenotype: Hyperkalemia (HP:0002153)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: OBSCN
Phenotype: Type 2 muscle fiber predominance (HP:0010602)
Associated disease: RHABDOMYOLYSIS, SUSCEPTIBILITY TO, 1 (OMIM:620235)
Gene: OBSCN
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: OBSCN
Phenotype: Type 2 muscle fiber atrophy (HP:0003554)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: OBSCN
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: RHABDOMYOLYSIS, SUSCEPTIBILITY TO, 1 (OMIM:620235)
Gene: OBSCN
Phenotype: Viral infection-induced rhabdomyolysis (HP:0003558)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: OBSCN
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: RHABDOMYOLYSIS, SUSCEPTIBILITY TO, 1 (OMIM:620235)
Gene: OBSCN
Phenotype: Exercise-induced myoglobinuria (HP:0008305)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: OBSCN
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: RHABDOMYOLYSIS, SUSCEPTIBILITY TO, 1 (OMIM:620235)
Gene: OBSCN
Phenotype: Recurrent myoglobinuria (HP:0003652)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: OBSCN
Phenotype: Myositis (HP:0100614)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: OBSCN
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RHABDOMYOLYSIS, SUSCEPTIBILITY TO, 1 (OMIM:620235)
Gene: OBSCN
Phenotype: Disseminated intravascular coagulation (HP:0005521)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: OBSCN
Phenotype: Fever (HP:0001945)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: OBSCN
Phenotype: Acute kidney injury (HP:0001919)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: OBSCN
Phenotype: Young adult onset (HP:0011462)
Associated disease: RHABDOMYOLYSIS, SUSCEPTIBILITY TO, 1 (OMIM:620235)
Gene: OBSCN
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: RHABDOMYOLYSIS, SUSCEPTIBILITY TO, 1 (OMIM:620235)
Gene: OBSCN
Phenotype: Rhabdomyolysis (HP:0003201)
Associated disease: RHABDOMYOLYSIS, SUSCEPTIBILITY TO, 1 (OMIM:620235)
Gene: OBSCN
Phenotype: Abnormality of jaw muscles (HP:0045037)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: OBSCN
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: OBSCN
Phenotype: Impaired mastication (HP:0005216)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: OBSCN
Phenotype: Fatigable weakness of swallowing muscles (HP:0030195)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: OBSCN
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: OBSCN
Phenotype: Hyperphosphatemia (HP:0002905)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: OBSCN
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: OBSCN
Phenotype: Highly elevated creatine kinase (HP:0030234)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: OBSCN
Phenotype: Neck muscle weakness (HP:0000467)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: OBSCN
Phenotype: Elevated circulating aldolase concentration (HP:0012544)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: ADGRV1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADGRV1
Phenotype: EEG with spike-wave complexes (HP:0010850)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)