TaoMedAI/RareMedData huggingface dataset:
Gene: RFXAP
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MHC CLASS II DEFICIENCY 4 (OMIM:620817)
Gene: RFXAP
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: MHC CLASS II DEFICIENCY 4 (OMIM:620817)
Gene: RFXAP
Phenotype: Decreased circulating beta-2-microglobulin level (HP:0025347)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXAP
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: MHC CLASS II DEFICIENCY 4 (OMIM:620817)
Gene: RFXAP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MHC CLASS II DEFICIENCY 4 (OMIM:620817)
Gene: RFXAP
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXAP
Phenotype: Chronic mucocutaneous candidiasis (HP:0002728)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXAP
Phenotype: Recurrent Staphylococcus aureus infections (HP:0002726)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXAP
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: MHC CLASS II DEFICIENCY 4 (OMIM:620817)
Gene: RFXAP
Phenotype: Impaired lymphocyte transformation with phytohemagglutinin (HP:0003347)
Associated disease: MHC CLASS II DEFICIENCY 4 (OMIM:620817)
Gene: RFXAP
Phenotype: Sclerosing cholangitis (HP:0030991)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXAP
Phenotype: Diarrhea (HP:0002014)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXAP
Phenotype: Gait ataxia (HP:0002066)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXAP
Phenotype: Recurrent infection of the gastrointestinal tract (HP:0004798)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXAP
Phenotype: Inverted CD4:CD8 ratio (HP:0033222)
Associated disease: MHC CLASS II DEFICIENCY 4 (OMIM:620817)
Gene: RFXAP
Phenotype: Infantile onset (HP:0003593)
Associated disease: MHC CLASS II DEFICIENCY 4 (OMIM:620817)
Gene: RFXAP
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: MHC CLASS II DEFICIENCY 4 (OMIM:620817)
Gene: RFXAP
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXAP
Phenotype: Chronic hepatitis due to cryptosporidium infection (HP:0200124)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXAP
Phenotype: Neonatal onset (HP:0003623)
Associated disease: MHC CLASS II DEFICIENCY 4 (OMIM:620817)
Gene: RFXAP
Phenotype: Autoimmune thrombocytopenia (HP:0001973)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXAP
Phenotype: Autoimmune neutropenia (HP:0001904)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXAP
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXAP
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: MHC CLASS II DEFICIENCY 4 (OMIM:620817)
Gene: RFXAP
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXAP
Phenotype: Protracted diarrhea (HP:0004385)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXAP
Phenotype: Protracted diarrhea (HP:0004385)
Associated disease: MHC CLASS II DEFICIENCY 4 (OMIM:620817)
Gene: RFXAP
Phenotype: Recurrent viral infections (HP:0004429)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXAP
Phenotype: Panhypogammaglobulinemia (HP:0003139)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXAP
Phenotype: Skin rash (HP:0000988)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXAP
Phenotype: Reduced MHC II cell surface expression (HP:0031390)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXAP
Phenotype: Abnormal CD4:CD8 ratio (HP:0031394)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXAP
Phenotype: Sinusitis (HP:0000246)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXAP
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MHC CLASS II DEFICIENCY 4 (OMIM:620817)
Gene: RFXAP
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXAP
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: MHC CLASS II DEFICIENCY 4 (OMIM:620817)
Gene: RFXAP
Phenotype: Decreased mitogen-induced T-cell proliferation (HP:0031381)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXAP
Phenotype: Recurrent fungal infections (HP:0002841)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXAP
Phenotype: Rhinitis (HP:0012384)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXAP
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: MHC CLASS II DEFICIENCY 4 (OMIM:620817)
Gene: RFXAP
Phenotype: Acute otitis media (HP:0000371)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXAP
Phenotype: Autoimmunity (HP:0002960)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXAP
Phenotype: Recurrent protozoan infections (HP:0005386)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXAP
Phenotype: Absent cellular immunity (HP:0005354)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXAP
Phenotype: Recurrent herpes (HP:0005353)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXAP
Phenotype: Abnormality of humoral immunity (HP:0005368)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXAP
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: MHC CLASS II DEFICIENCY 4 (OMIM:620817)
Gene: RFXAP
Phenotype: Brain atrophy (HP:0012444)
Associated disease: MHC CLASS II DEFICIENCY 4 (OMIM:620817)
Gene: RFXAP
Phenotype: Splenomegaly (HP:0001744)
Associated disease: MHC CLASS II DEFICIENCY 4 (OMIM:620817)
Gene: RFXAP
Phenotype: Decreased total T cell count (HP:0005403)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXAP
Phenotype: Recurrent candida infections (HP:0005401)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXAP
Phenotype: Recurrent candida infections (HP:0005401)
Associated disease: MHC CLASS II DEFICIENCY 4 (OMIM:620817)
Gene: RFXAP
Phenotype: Autoimmune hemolytic anemia (HP:0001890)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXAP
Phenotype: Pancytopenia (HP:0001876)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXAP
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: MHC CLASS II DEFICIENCY 4 (OMIM:620817)
Gene: RFXAP
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RGR
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RGR
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 44 (OMIM:613769)
Gene: RGR
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RGR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RGR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 44 (OMIM:613769)
Gene: RGR
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RGR
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 44 (OMIM:613769)
Gene: RGR
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RGR
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RGR
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RGR
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RGR
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RGR
Phenotype: Nystagmus (HP:0000639)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RGR
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RGR
Phenotype: Blindness (HP:0000618)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RGR
Phenotype: Photophobia (HP:0000613)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RGR
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RGR
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RGR
Phenotype: Abnormal central response of multifocal electroretinogram (HP:0030488)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RGR
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RGR
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RGR
Phenotype: Decreased light- and dark-adapted electroretinogram amplitude (HP:0000654)
Associated disease: RETINITIS PIGMENTOSA 44 (OMIM:613769)
Gene: RGR
Phenotype: Photoreceptor outer segment loss on macular OCT (HP:0030610)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RGR
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RGR
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RGR
Phenotype: Photopsia (HP:0030786)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RGR
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RGR
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RGR
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RGR
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RGR
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RGR
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RGR
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RGR
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RGR
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 44 (OMIM:613769)
Gene: RGR
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RGR
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RGR
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RGR
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RGR
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RGR
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 44 (OMIM:613769)
Gene: RGR
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RGR
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RGR
Phenotype: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RGR
Phenotype: Visual impairment (HP:0000505)
Associated disease: RETINITIS PIGMENTOSA 44 (OMIM:613769)
Gene: RGR
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RGR
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RGR
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RGR
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RGR
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RGR
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RGR
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RGR
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RHAG
Phenotype: Hypochromia (HP:0032231)
Associated disease: Rh deficiency syndrome; Rh-null syndrome (ORPHA:71275)
Gene: RHAG
Phenotype: Positive direct antiglobulin test (HP:0032366)
Associated disease: Rh deficiency syndrome; Rh-null syndrome (ORPHA:71275)
Gene: RHAG
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OVERHYDRATED HEREDITARY STOMATOCYTOSIS (OMIM:185000)
Gene: RHAG
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RH-NULL, REGULATOR TYPE (OMIM:268150)
Gene: RHAG
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: Overhydrated hereditary stomatocytosis (ORPHA:3203)
Gene: RHAG
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: Rh deficiency syndrome; Rh-null syndrome (ORPHA:71275)
Gene: RHAG
Phenotype: Tachypnea (HP:0002789)
Associated disease: Rh deficiency syndrome; Rh-null syndrome (ORPHA:71275)
Gene: RHAG
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Rh deficiency syndrome; Rh-null syndrome (ORPHA:71275)
Gene: RHAG
Phenotype: Unconjugated hyperbilirubinemia (HP:0008282)
Associated disease: RH-NULL, REGULATOR TYPE (OMIM:268150)
Gene: RHAG
Phenotype: Increased intracellular sodium (HP:0003575)
Associated disease: OVERHYDRATED HEREDITARY STOMATOCYTOSIS (OMIM:185000)
Gene: RHAG
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: OVERHYDRATED HEREDITARY STOMATOCYTOSIS (OMIM:185000)
Gene: RHAG
Phenotype: Pulmonary embolism (HP:0002204)
Associated disease: OVERHYDRATED HEREDITARY STOMATOCYTOSIS (OMIM:185000)
Gene: RHAG
Phenotype: Intermittent jaundice (HP:0001046)
Associated disease: Overhydrated hereditary stomatocytosis (ORPHA:3203)
Gene: RHAG
Phenotype: Abnormal mean corpuscular volume (HP:0025065)
Associated disease: Overhydrated hereditary stomatocytosis (ORPHA:3203)
Gene: RHAG
Phenotype: Neonatal onset (HP:0003623)
Associated disease: OVERHYDRATED HEREDITARY STOMATOCYTOSIS (OMIM:185000)
Gene: RHAG
Phenotype: Reduced haptoglobin level (HP:0020181)
Associated disease: Rh deficiency syndrome; Rh-null syndrome (ORPHA:71275)
Gene: RHAG
Phenotype: Increased mean corpuscular volume (HP:0005518)
Associated disease: OVERHYDRATED HEREDITARY STOMATOCYTOSIS (OMIM:185000)
Gene: RHAG
Phenotype: Increased red cell osmotic fragility (HP:0005502)
Associated disease: OVERHYDRATED HEREDITARY STOMATOCYTOSIS (OMIM:185000)
Gene: RHAG
Phenotype: Increased red cell osmotic fragility (HP:0005502)
Associated disease: RH-NULL, REGULATOR TYPE (OMIM:268150)
Gene: RHAG
Phenotype: Increased red cell osmotic fragility (HP:0005502)
Associated disease: Overhydrated hereditary stomatocytosis (ORPHA:3203)
Gene: RHAG
Phenotype: Increased red cell osmotic fragility (HP:0005502)
Associated disease: Rh deficiency syndrome; Rh-null syndrome (ORPHA:71275)
Gene: RHAG
Phenotype: Abnormal thrombosis (HP:0001977)
Associated disease: Overhydrated hereditary stomatocytosis (ORPHA:3203)
Gene: RHAG
Phenotype: Macrocytic anemia (HP:0001972)
Associated disease: Rh deficiency syndrome; Rh-null syndrome (ORPHA:71275)
Gene: RHAG
Phenotype: Reticulocytosis (HP:0001923)
Associated disease: OVERHYDRATED HEREDITARY STOMATOCYTOSIS (OMIM:185000)
Gene: RHAG
Phenotype: Reticulocytosis (HP:0001923)
Associated disease: Overhydrated hereditary stomatocytosis (ORPHA:3203)
Gene: RHAG
Phenotype: Reticulocytosis (HP:0001923)
Associated disease: Rh deficiency syndrome; Rh-null syndrome (ORPHA:71275)
Gene: RHAG
Phenotype: Stomatocytosis (HP:0004446)
Associated disease: OVERHYDRATED HEREDITARY STOMATOCYTOSIS (OMIM:185000)
Gene: RHAG
Phenotype: Stomatocytosis (HP:0004446)
Associated disease: RH-NULL, REGULATOR TYPE (OMIM:268150)
Gene: RHAG
Phenotype: Stomatocytosis (HP:0004446)
Associated disease: Overhydrated hereditary stomatocytosis (ORPHA:3203)
Gene: RHAG
Phenotype: Stomatocytosis (HP:0004446)
Associated disease: Rh deficiency syndrome; Rh-null syndrome (ORPHA:71275)
Gene: RHAG
Phenotype: Spherocytosis (HP:0004444)
Associated disease: Rh deficiency syndrome; Rh-null syndrome (ORPHA:71275)
Gene: RHAG
Phenotype: Jaundice (HP:0000952)
Associated disease: OVERHYDRATED HEREDITARY STOMATOCYTOSIS (OMIM:185000)
Gene: RHAG
Phenotype: Jaundice (HP:0000952)
Associated disease: Rh deficiency syndrome; Rh-null syndrome (ORPHA:71275)
Gene: RHAG
Phenotype: Jaundice (HP:0000952)
Associated disease: RH-NULL, REGULATOR TYPE (OMIM:268150)
Gene: RHAG
Phenotype: Decreased mean corpuscular hemoglobin concentration (HP:0025547)
Associated disease: Overhydrated hereditary stomatocytosis (ORPHA:3203)
Gene: RHAG
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Rh deficiency syndrome; Rh-null syndrome (ORPHA:71275)
Gene: RHAG
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Rh deficiency syndrome; Rh-null syndrome (ORPHA:71275)
Gene: RHAG
Phenotype: Fatigue (HP:0012378)
Associated disease: OVERHYDRATED HEREDITARY STOMATOCYTOSIS (OMIM:185000)
Gene: RHAG
Phenotype: Miscarriage (HP:0005268)
Associated disease: Rh deficiency syndrome; Rh-null syndrome (ORPHA:71275)
Gene: RHAG
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: OVERHYDRATED HEREDITARY STOMATOCYTOSIS (OMIM:185000)
Gene: RHAG
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: OVERHYDRATED HEREDITARY STOMATOCYTOSIS (OMIM:185000)
Gene: RHAG
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: Rh deficiency syndrome; Rh-null syndrome (ORPHA:71275)
Gene: RHAG
Phenotype: Tachycardia (HP:0001649)
Associated disease: Rh deficiency syndrome; Rh-null syndrome (ORPHA:71275)
Gene: RHAG
Phenotype: Hypoxemia (HP:0012418)
Associated disease: Rh deficiency syndrome; Rh-null syndrome (ORPHA:71275)
Gene: RHAG
Phenotype: Splenomegaly (HP:0001744)
Associated disease: OVERHYDRATED HEREDITARY STOMATOCYTOSIS (OMIM:185000)
Gene: RHAG
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Overhydrated hereditary stomatocytosis (ORPHA:3203)
Gene: RHAG
Phenotype: Anisocytosis (HP:0011273)
Associated disease: Overhydrated hereditary stomatocytosis (ORPHA:3203)
Gene: RHAG
Phenotype: Anisocytosis (HP:0011273)
Associated disease: Rh deficiency syndrome; Rh-null syndrome (ORPHA:71275)
Gene: RHAG
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: OVERHYDRATED HEREDITARY STOMATOCYTOSIS (OMIM:185000)
Gene: RHAG
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: RH-NULL, REGULATOR TYPE (OMIM:268150)
Gene: RHAG
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: Overhydrated hereditary stomatocytosis (ORPHA:3203)
Gene: RHAG
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: Rh deficiency syndrome; Rh-null syndrome (ORPHA:71275)
Gene: RHCE
Phenotype: Hypochromia (HP:0032231)
Associated disease: Rh deficiency syndrome; Rh-null syndrome (ORPHA:71275)
Gene: RHCE
Phenotype: Positive direct antiglobulin test (HP:0032366)
Associated disease: Rh deficiency syndrome; Rh-null syndrome (ORPHA:71275)
Gene: RHCE
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RH-NULL, AMORPH TYPE (OMIM:617970)
Gene: RHCE
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: Rh deficiency syndrome; Rh-null syndrome (ORPHA:71275)
Gene: RHCE
Phenotype: Tachypnea (HP:0002789)
Associated disease: Rh deficiency syndrome; Rh-null syndrome (ORPHA:71275)
Gene: RHCE
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Rh deficiency syndrome; Rh-null syndrome (ORPHA:71275)
Gene: RHCE
Phenotype: Reduced haptoglobin level (HP:0020181)
Associated disease: Rh deficiency syndrome; Rh-null syndrome (ORPHA:71275)
Gene: RHCE
Phenotype: Increased red cell osmotic fragility (HP:0005502)
Associated disease: RH-NULL, AMORPH TYPE (OMIM:617970)
Gene: RHCE
Phenotype: Increased red cell osmotic fragility (HP:0005502)
Associated disease: Rh deficiency syndrome; Rh-null syndrome (ORPHA:71275)
Gene: RHCE
Phenotype: Macrocytic anemia (HP:0001972)
Associated disease: Rh deficiency syndrome; Rh-null syndrome (ORPHA:71275)
Gene: RHCE
Phenotype: Reticulocytosis (HP:0001923)
Associated disease: RH-NULL, AMORPH TYPE (OMIM:617970)
Gene: RHCE
Phenotype: Reticulocytosis (HP:0001923)
Associated disease: Rh deficiency syndrome; Rh-null syndrome (ORPHA:71275)
Gene: RHCE
Phenotype: Stomatocytosis (HP:0004446)
Associated disease: RH-NULL, AMORPH TYPE (OMIM:617970)