TaoMedAI/RareMedData huggingface dataset:
Gene: HPS3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HERMANSKY-PUDLAK SYNDROME 3 (OMIM:614072)
Gene: HPS3
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: HERMANSKY-PUDLAK SYNDROME 3 (OMIM:614072)
Gene: HPS3
Phenotype: Impaired platelet aggregation (HP:0003540)
Associated disease: HERMANSKY-PUDLAK SYNDROME 3 (OMIM:614072)
Gene: HPS3
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: HERMANSKY-PUDLAK SYNDROME 3 (OMIM:614072)
Gene: HPS3
Phenotype: Albinism (HP:0001022)
Associated disease: HERMANSKY-PUDLAK SYNDROME 3 (OMIM:614072)
Gene: HPS3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: HERMANSKY-PUDLAK SYNDROME 3 (OMIM:614072)
Gene: HPS3
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: HERMANSKY-PUDLAK SYNDROME 3 (OMIM:614072)
Gene: HPS3
Phenotype: Nystagmus (HP:0000639)
Associated disease: HERMANSKY-PUDLAK SYNDROME 3 (OMIM:614072)
Gene: HPS3
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: HERMANSKY-PUDLAK SYNDROME 3 (OMIM:614072)
Gene: HPS3
Phenotype: Congenital nystagmus (HP:0006934)
Associated disease: HERMANSKY-PUDLAK SYNDROME 3 (OMIM:614072)
Gene: HPS3
Phenotype: Spontaneous, recurrent epistaxis (HP:0004406)
Associated disease: HERMANSKY-PUDLAK SYNDROME 3 (OMIM:614072)
Gene: HPS3
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: HERMANSKY-PUDLAK SYNDROME 3 (OMIM:614072)
Gene: HPS3
Phenotype: Gingival bleeding (HP:0000225)
Associated disease: HERMANSKY-PUDLAK SYNDROME 3 (OMIM:614072)
Gene: HPS3
Phenotype: Visual impairment (HP:0000505)
Associated disease: HERMANSKY-PUDLAK SYNDROME 3 (OMIM:614072)
Gene: HPS3
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: HERMANSKY-PUDLAK SYNDROME 3 (OMIM:614072)
Gene: HPS3
Phenotype: Esotropia (HP:0000565)
Associated disease: HERMANSKY-PUDLAK SYNDROME 3 (OMIM:614072)
Gene: HPS3
Phenotype: Abnormal number of dense granules (HP:0012530)
Associated disease: HERMANSKY-PUDLAK SYNDROME 3 (OMIM:614072)
Gene: HOOK3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: HOOK3
Phenotype: Left ventricular noncompaction cardiomyopathy (HP:0011664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: HOOK3
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: HOOK3
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: HOOK3
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: HOOK3
Phenotype: Aborted sudden cardiac death (HP:0031628)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: HOOK3
Phenotype: Polymorphic and polytopic ventricular extrasystoles (HP:0006696)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: CARD11
Phenotype: Lymphoid hyperplasia (HP:0034839)
Associated disease: B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY (OMIM:616452)
Gene: CARD11
Phenotype: Decreased specific antibody response to polysaccharide vaccine (HP:0410299)
Associated disease: B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY (OMIM:616452)
Gene: CARD11
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 11 (OMIM:615206)
Gene: CARD11
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY (OMIM:616452)
Gene: CARD11
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS (OMIM:617638)
Gene: CARD11
Phenotype: Food allergy (HP:0500093)
Associated disease: IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS (OMIM:617638)
Gene: CARD11
Phenotype: Recurrent infections (HP:0002719)
Associated disease: B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY (OMIM:616452)
Gene: CARD11
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY (OMIM:616452)
Gene: CARD11
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: IMMUNODEFICIENCY 11 (OMIM:615206)
Gene: CARD11
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS (OMIM:617638)
Gene: CARD11
Phenotype: Asthma (HP:0002099)
Associated disease: IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS (OMIM:617638)
Gene: CARD11
Phenotype: Pneumonia (HP:0002090)
Associated disease: IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS (OMIM:617638)
Gene: CARD11
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS (OMIM:617638)
Gene: CARD11
Phenotype: Infantile onset (HP:0003593)
Associated disease: IMMUNODEFICIENCY 11 (OMIM:615206)
Gene: CARD11
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: IMMUNODEFICIENCY 11 (OMIM:615206)
Gene: CARD11
Phenotype: Atopic dermatitis (HP:0001047)
Associated disease: IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS (OMIM:617638)
Gene: CARD11
Phenotype: Decreased proportion of regulatory T cells (HP:0020113)
Associated disease: IMMUNODEFICIENCY 11 (OMIM:615206)
Gene: CARD11
Phenotype: Pneumocystis jirovecii pneumonia (HP:0020102)
Associated disease: IMMUNODEFICIENCY 11 (OMIM:615206)
Gene: CARD11
Phenotype: Disseminated molluscum contagiosum (HP:0032185)
Associated disease: IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS (OMIM:617638)
Gene: CARD11
Phenotype: Colonic eosinophilia (HP:0031813)
Associated disease: IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS (OMIM:617638)
Gene: CARD11
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: IMMUNODEFICIENCY 11 (OMIM:615206)
Gene: CARD11
Phenotype: Agammaglobulinemia (HP:0004432)
Associated disease: IMMUNODEFICIENCY 11 (OMIM:615206)
Gene: CARD11
Phenotype: Increased circulating IgE concentration (HP:0003212)
Associated disease: IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS (OMIM:617638)
Gene: CARD11
Phenotype: Ulcerative colitis (HP:0100279)
Associated disease: IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS (OMIM:617638)
Gene: CARD11
Phenotype: Reduced antigen-specific T cell proliferation (HP:0031402)
Associated disease: IMMUNODEFICIENCY 11 (OMIM:615206)
Gene: CARD11
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY (OMIM:616452)
Gene: CARD11
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS (OMIM:617638)
Gene: CARD11
Phenotype: Decreased total monocyte count (HP:0012312)
Associated disease: IMMUNODEFICIENCY 11 (OMIM:615206)
Gene: CARD11
Phenotype: Splenomegaly (HP:0001744)
Associated disease: B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY (OMIM:616452)
Gene: CARD11
Phenotype: Increased total B cell count (HP:0005404)
Associated disease: B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY (OMIM:616452)
Gene: CARD11
Phenotype: Severe cytomegalovirus infection (HP:0031692)
Associated disease: IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS (OMIM:617638)
Gene: CARD11
Phenotype: Increased total eosinophil count (HP:0001880)
Associated disease: IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS (OMIM:617638)
Gene: SLX4
Phenotype: Abnormal thumb morphology (HP:0001172)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Triphalangeal thumb (HP:0001199)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Spina bifida (HP:0002414)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Tracheoesophageal fistula (HP:0002575)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Irregular hyperpigmentation (HP:0007400)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Duodenal stenosis (HP:0100867)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Renal hypoplasia/aplasia (HP:0008678)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP P (OMIM:613951)
Gene: SLX4
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Abnormality of the urinary system (HP:0000079)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Hydroureter (HP:0000072)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Decreased fertility in males (HP:0012041)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Hypospadias (HP:0000047)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Abnormal testis morphology (HP:0000035)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP P (OMIM:613951)
Gene: SLX4
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Azoospermia (HP:0000027)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Multiple cafe-au-lait spots (HP:0007565)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Neoplasm (HP:0002664)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP P (OMIM:613951)
Gene: SLX4
Phenotype: Scoliosis (HP:0002650)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Cleft palate (HP:0000175)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Hypogonadism (HP:0000135)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Aplasia/Hypoplasia of fingers (HP:0006265)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Abnormality of the uterus (HP:0000130)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Pelvic kidney (HP:0000125)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP P (OMIM:613951)
Gene: SLX4
Phenotype: Anal atresia (HP:0002023)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Abnormal localization of kidney (HP:0100542)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Abnormal preputium morphology (HP:0100587)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Absent testis (HP:0010469)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Meckel diverticulum (HP:0002245)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Clubbing of toes (HP:0100760)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Vitiligo (HP:0001045)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP P (OMIM:613951)
Gene: SLX4
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Absent thumb (HP:0009777)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP P (OMIM:613951)
Gene: SLX4
Phenotype: Short thumb (HP:0009778)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP P (OMIM:613951)
Gene: SLX4
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Pyridoxine-responsive sideroblastic anemia (HP:0005522)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Nystagmus (HP:0000639)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Anemia (HP:0001903)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP P (OMIM:613951)
Gene: SLX4
Phenotype: Anemia (HP:0001903)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Abnormal nervous system morphology (HP:0012639)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Short stature (HP:0004322)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP P (OMIM:613951)
Gene: SLX4
Phenotype: Short stature (HP:0004322)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Hypoplasia of the ulna (HP:0003022)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP P (OMIM:613951)
Gene: SLX4
Phenotype: Arteriovenous malformation (HP:0100026)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Abnormality of the hypothalamus-pituitary axis (HP:0000864)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Bicornuate uterus (HP:0000813)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Aplasia/Hypoplasia of the uvula (HP:0010293)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Abnormal morphology of ulna (HP:0040071)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Abnormality of chromosome stability (HP:0003220)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Chromosomal breakage induced by crosslinking agents (HP:0003221)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP P (OMIM:613951)
Gene: SLX4
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP P (OMIM:613951)
Gene: SLX4
Phenotype: Aplasia/Hypoplasia of the iris (HP:0008053)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Epicanthus (HP:0000286)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Abnormality of the upper limb (HP:0002817)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Abnormal femur morphology (HP:0002823)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Microcephaly (HP:0000252)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP P (OMIM:613951)
Gene: SLX4
Phenotype: Microcephaly (HP:0000252)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Abnormal renal morphology (HP:0012210)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: High palate (HP:0000218)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Squamous cell carcinoma (HP:0002860)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP P (OMIM:613951)
Gene: SLX4
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Growth delay (HP:0001510)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP P (OMIM:613951)
Gene: SLX4
Phenotype: Growth delay (HP:0001510)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Aplasia/Hypoplasia of the radius (HP:0006501)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Almond-shaped palpebral fissure (HP:0007874)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP P (OMIM:613951)
Gene: SLX4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Hearing abnormality (HP:0000364)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Abnormal aortic morphology (HP:0001679)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Micrognathia (HP:0000347)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP P (OMIM:613951)
Gene: SLX4
Phenotype: Micrognathia (HP:0000347)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Abnormal aortic valve morphology (HP:0001646)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Hypoplasia of the radius (HP:0002984)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP P (OMIM:613951)
Gene: SLX4
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Abnormal carotid artery morphology (HP:0005344)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Astigmatism (HP:0000483)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Strabismus (HP:0000486)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Abnormal eyelid morphology (HP:0000492)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Pes planus (HP:0001763)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Choanal atresia (HP:0000453)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Bulbous nose (HP:0000414)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP P (OMIM:613951)
Gene: SLX4
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Cataract (HP:0000518)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Proptosis (HP:0000520)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Weight loss (HP:0001824)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Ptosis (HP:0000508)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Visual impairment (HP:0000505)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP P (OMIM:613951)
Gene: SLX4
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Abnormality of blood and blood-forming tissues (HP:0001871)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: SLX4
Phenotype: Pancytopenia (HP:0001876)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP P (OMIM:613951)
Gene: MEGF10
Phenotype: Minicore myopathy (HP:0003789)
Associated disease: CONGENITAL MYOPATHY 10B, MILD VARIANT (OMIM:620249)
Gene: MEGF10
Phenotype: Type 1 and type 2 muscle fiber minicore regions (HP:0003787)
Associated disease: CONGENITAL MYOPATHY 10B, MILD VARIANT (OMIM:620249)
Gene: MEGF10
Phenotype: Poor head control (HP:0002421)
Associated disease: MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET (OMIM:614399)
Gene: MEGF10
Phenotype: Neck flexor weakness (HP:0003722)
Associated disease: CONGENITAL MYOPATHY 10B, MILD VARIANT (OMIM:620249)
Gene: MEGF10
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: CONGENITAL MYOPATHY 10B, MILD VARIANT (OMIM:620249)