TaoMedAI/RareMedData huggingface dataset:
Gene: AHCY
Phenotype: Intellectual disability (HP:0001249)
Associated disease: HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY (OMIM:613752)
Gene: AHCY
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY (OMIM:613752)
Gene: AHCY
Phenotype: Global developmental delay (HP:0001263)
Associated disease: S-adenosylhomocysteine hydrolase deficiency (ORPHA:88618)
Gene: AHCY
Phenotype: Decreased tissue S-adenosylhomocysteine hydrolase activity (HP:6000750)
Associated disease: HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY (OMIM:613752)
Gene: AHCY
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: S-adenosylhomocysteine hydrolase deficiency (ORPHA:88618)
Gene: AHCY
Phenotype: Muscle weakness (HP:0001324)
Associated disease: S-adenosylhomocysteine hydrolase deficiency (ORPHA:88618)
Gene: AHCY
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY (OMIM:613752)
Gene: AHCY
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: S-adenosylhomocysteine hydrolase deficiency (ORPHA:88618)
Gene: AHCY
Phenotype: Decreased hepatic echogenicity (HP:0031143)
Associated disease: HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY (OMIM:613752)
Gene: AHCY
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY (OMIM:613752)
Gene: AHCY
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: S-adenosylhomocysteine hydrolase deficiency (ORPHA:88618)
Gene: AHCY
Phenotype: Floppy infant (HP:0008947)
Associated disease: S-adenosylhomocysteine hydrolase deficiency (ORPHA:88618)
Gene: AHCY
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: S-adenosylhomocysteine hydrolase deficiency (ORPHA:88618)
Gene: AHCY
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: S-adenosylhomocysteine hydrolase deficiency (ORPHA:88618)
Gene: AHCY
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: S-adenosylhomocysteine hydrolase deficiency (ORPHA:88618)
Gene: AHCY
Phenotype: Reduced factor VII activity (HP:0008169)
Associated disease: S-adenosylhomocysteine hydrolase deficiency (ORPHA:88618)
Gene: AHCY
Phenotype: Prolonged prothrombin time (HP:0008151)
Associated disease: S-adenosylhomocysteine hydrolase deficiency (ORPHA:88618)
Gene: AHCY
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: S-adenosylhomocysteine hydrolase deficiency (ORPHA:88618)
Gene: AHCY
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: S-adenosylhomocysteine hydrolase deficiency (ORPHA:88618)
Gene: AHCY
Phenotype: Hypofibrinogenemia (HP:0011900)
Associated disease: S-adenosylhomocysteine hydrolase deficiency (ORPHA:88618)
Gene: AHCY
Phenotype: Hyperhomocystinemia (HP:0002160)
Associated disease: S-adenosylhomocysteine hydrolase deficiency (ORPHA:88618)
Gene: AHCY
Phenotype: Infantile onset (HP:0003593)
Associated disease: HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY (OMIM:613752)
Gene: AHCY
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: S-adenosylhomocysteine hydrolase deficiency (ORPHA:88618)
Gene: AHCY
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY (OMIM:613752)
Gene: AHCY
Phenotype: Abnormality of hair texture (HP:0010719)
Associated disease: S-adenosylhomocysteine hydrolase deficiency (ORPHA:88618)
Gene: AHCY
Phenotype: Elevated coagulation factor V activity (HP:0011996)
Associated disease: S-adenosylhomocysteine hydrolase deficiency (ORPHA:88618)
Gene: AHCY
Phenotype: Esodeviation (HP:0020045)
Associated disease: HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY (OMIM:613752)
Gene: AHCY
Phenotype: Developmental regression (HP:0002376)
Associated disease: S-adenosylhomocysteine hydrolase deficiency (ORPHA:88618)
Gene: AHCY
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: S-adenosylhomocysteine hydrolase deficiency (ORPHA:88618)
Gene: AHCY
Phenotype: Reduced antithrombin III activity (HP:0001976)
Associated disease: S-adenosylhomocysteine hydrolase deficiency (ORPHA:88618)
Gene: AHCY
Phenotype: Abnormality of coagulation (HP:0001928)
Associated disease: S-adenosylhomocysteine hydrolase deficiency (ORPHA:88618)
Gene: AHCY
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY (OMIM:613752)
Gene: AHCY
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: S-adenosylhomocysteine hydrolase deficiency (ORPHA:88618)
Gene: AHCY
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY (OMIM:613752)
Gene: AHCY
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY (OMIM:613752)
Gene: AHCY
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY (OMIM:613752)
Gene: AHCY
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: S-adenosylhomocysteine hydrolase deficiency (ORPHA:88618)
Gene: AHCY
Phenotype: Short attention span (HP:0000736)
Associated disease: S-adenosylhomocysteine hydrolase deficiency (ORPHA:88618)
Gene: AHCY
Phenotype: Widened subarachnoid space (HP:0012704)
Associated disease: S-adenosylhomocysteine hydrolase deficiency (ORPHA:88618)
Gene: AHCY
Phenotype: Atypical behavior (HP:0000708)
Associated disease: S-adenosylhomocysteine hydrolase deficiency (ORPHA:88618)
Gene: AHCY
Phenotype: Hypermethioninemia (HP:0003235)
Associated disease: HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY (OMIM:613752)
Gene: AHCY
Phenotype: Hypermethioninemia (HP:0003235)
Associated disease: S-adenosylhomocysteine hydrolase deficiency (ORPHA:88618)
Gene: AHCY
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: S-adenosylhomocysteine hydrolase deficiency (ORPHA:88618)
Gene: AHCY
Phenotype: Hyperintensity of cerebral white matter on MRI (HP:0030890)
Associated disease: S-adenosylhomocysteine hydrolase deficiency (ORPHA:88618)
Gene: AHCY
Phenotype: Microcephaly (HP:0000252)
Associated disease: S-adenosylhomocysteine hydrolase deficiency (ORPHA:88618)
Gene: AHCY
Phenotype: Respiratory failure (HP:0002878)
Associated disease: S-adenosylhomocysteine hydrolase deficiency (ORPHA:88618)
Gene: AHCY
Phenotype: Failure to thrive (HP:0001508)
Associated disease: S-adenosylhomocysteine hydrolase deficiency (ORPHA:88618)
Gene: AHCY
Phenotype: Failure to thrive (HP:0001508)
Associated disease: HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY (OMIM:613752)
Gene: AHCY
Phenotype: Growth delay (HP:0001510)
Associated disease: S-adenosylhomocysteine hydrolase deficiency (ORPHA:88618)
Gene: AHCY
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: S-adenosylhomocysteine hydrolase deficiency (ORPHA:88618)
Gene: AHCY
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY (OMIM:613752)
Gene: AHCY
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: S-adenosylhomocysteine hydrolase deficiency (ORPHA:88618)
Gene: AHCY
Phenotype: Strabismus (HP:0000486)
Associated disease: S-adenosylhomocysteine hydrolase deficiency (ORPHA:88618)
Gene: AHCY
Phenotype: Delayed myelination (HP:0012448)
Associated disease: S-adenosylhomocysteine hydrolase deficiency (ORPHA:88618)
Gene: AHCY
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: S-adenosylhomocysteine hydrolase deficiency (ORPHA:88618)
Gene: AHCY
Phenotype: Pes planus (HP:0001763)
Associated disease: S-adenosylhomocysteine hydrolase deficiency (ORPHA:88618)
Gene: AHCY
Phenotype: Esotropia (HP:0000565)
Associated disease: S-adenosylhomocysteine hydrolase deficiency (ORPHA:88618)
Gene: AHR
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: AHR
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: AHR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 85 (OMIM:618345)
Gene: AHR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: AHR
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: AHR
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: AHR
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: AHR
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: RETINITIS PIGMENTOSA 85 (OMIM:618345)
Gene: AHR
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: AHR
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: AHR
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 85 (OMIM:618345)
Gene: AHR
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: AHR
Phenotype: Nystagmus (HP:0000639)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: AHR
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: AHR
Phenotype: Blindness (HP:0000618)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: AHR
Phenotype: Photophobia (HP:0000613)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: AHR
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: AHR
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: AHR
Phenotype: Abnormal central response of multifocal electroretinogram (HP:0030488)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: AHR
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: AHR
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: AHR
Phenotype: Photoreceptor outer segment loss on macular OCT (HP:0030610)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: AHR
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: AHR
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: AHR
Phenotype: Photopsia (HP:0030786)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: AHR
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: AHR
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: AHR
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: AHR
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: AHR
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: AHR
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: AHR
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: AHR
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: AHR
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: AHR
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: AHR
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: AHR
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: AHR
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: AHR
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: AHR
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 85 (OMIM:618345)
Gene: AHR
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: AHR
Phenotype: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: AHR
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: AHR
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: AHR
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: AHR
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: AHR
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: AHR
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: AHR
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: AHR
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: AHSG
Phenotype: Split hand (HP:0001171)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: AHSG
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: AHSG
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: ALOPECIA-MENTAL RETARDATION SYNDROME 1 (OMIM:203650)
Gene: AHSG
Phenotype: Seizure (HP:0001250)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: AHSG
Phenotype: Hypotonia (HP:0001252)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: AHSG
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: AHSG
Phenotype: Aplasia/Hypoplasia of the eyebrow (HP:0100840)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: AHSG
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: AHSG
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ALOPECIA-MENTAL RETARDATION SYNDROME 1 (OMIM:203650)
Gene: AHSG
Phenotype: Scoliosis (HP:0002650)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: AHSG
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: AHSG
Phenotype: Abnormal skeletal morphology (HP:0011842)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: AHSG
Phenotype: Sparse body hair (HP:0002231)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: AHSG
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: AHSG
Phenotype: Alopecia universalis (HP:0002289)
Associated disease: ALOPECIA-MENTAL RETARDATION SYNDROME 1 (OMIM:203650)
Gene: AHSG
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: AHSG
Phenotype: Short corpus callosum (HP:0200012)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: AHSG
Phenotype: Photophobia (HP:0000613)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: AHSG
Phenotype: Short stature (HP:0004322)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: AHSG
Phenotype: Hypergonadotropic hypogonadism (HP:0000815)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: AHSG
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: AHSG
Phenotype: Alopecia (HP:0001596)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: AHSG
Phenotype: Alopecia (HP:0001596)
Associated disease: ALOPECIA-MENTAL RETARDATION SYNDROME 1 (OMIM:203650)
Gene: AHSG
Phenotype: Abnormal nasal morphology (HP:0005105)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: AHSG
Phenotype: Microcephaly (HP:0000252)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: AHSG
Phenotype: Growth delay (HP:0001510)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: AHSG
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: AHSG
Phenotype: Macrotia (HP:0000400)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: AK1
Phenotype: Reduced erythrocyte adenylate kinase activity (HP:6000558)
Associated disease: ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO (OMIM:612631)
Gene: AK1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO (OMIM:612631)
Gene: AK1
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO (OMIM:612631)
Gene: AK2
Phenotype: Sepsis (HP:0100806)
Associated disease: RETICULAR DYSGENESIS (OMIM:267500)
Gene: AK2
Phenotype: Sepsis (HP:0100806)
Associated disease: Reticular dysgenesis; AK2 deficiency; SCID with sensorineural deafness; Severe combined immunodeficiency with sensorineural hearing loss; SCID with sensorineural hearing loss; De Vaal disease; Severe combined immunodeficiency with sensorineural deafness (ORPHA:33355)
Gene: AK2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETICULAR DYSGENESIS (OMIM:267500)
Gene: AK2
Phenotype: Malabsorption (HP:0002024)
Associated disease: Reticular dysgenesis; AK2 deficiency; SCID with sensorineural deafness; Severe combined immunodeficiency with sensorineural hearing loss; SCID with sensorineural hearing loss; De Vaal disease; Severe combined immunodeficiency with sensorineural deafness (ORPHA:33355)
Gene: AK2
Phenotype: Diarrhea (HP:0002014)
Associated disease: Reticular dysgenesis; AK2 deficiency; SCID with sensorineural deafness; Severe combined immunodeficiency with sensorineural hearing loss; SCID with sensorineural hearing loss; De Vaal disease; Severe combined immunodeficiency with sensorineural deafness (ORPHA:33355)
Gene: AK2
Phenotype: Aplasia/Hypoplasia of the thymus (HP:0010515)
Associated disease: Reticular dysgenesis; AK2 deficiency; SCID with sensorineural deafness; Severe combined immunodeficiency with sensorineural hearing loss; SCID with sensorineural hearing loss; De Vaal disease; Severe combined immunodeficiency with sensorineural deafness (ORPHA:33355)
Gene: AK2
Phenotype: Abnormality of T cell physiology (HP:0011840)
Associated disease: RETICULAR DYSGENESIS (OMIM:267500)
Gene: AK2
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Reticular dysgenesis; AK2 deficiency; SCID with sensorineural deafness; Severe combined immunodeficiency with sensorineural hearing loss; SCID with sensorineural hearing loss; De Vaal disease; Severe combined immunodeficiency with sensorineural deafness (ORPHA:33355)
Gene: AK2
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Reticular dysgenesis; AK2 deficiency; SCID with sensorineural deafness; Severe combined immunodeficiency with sensorineural hearing loss; SCID with sensorineural hearing loss; De Vaal disease; Severe combined immunodeficiency with sensorineural deafness (ORPHA:33355)
Gene: AK2
Phenotype: Congenital agranulocytosis (HP:0005541)
Associated disease: RETICULAR DYSGENESIS (OMIM:267500)
Gene: AK2
Phenotype: Dehydration (HP:0001944)
Associated disease: Reticular dysgenesis; AK2 deficiency; SCID with sensorineural deafness; Severe combined immunodeficiency with sensorineural hearing loss; SCID with sensorineural hearing loss; De Vaal disease; Severe combined immunodeficiency with sensorineural deafness (ORPHA:33355)
Gene: AK2
Phenotype: Fever (HP:0001945)
Associated disease: Reticular dysgenesis; AK2 deficiency; SCID with sensorineural deafness; Severe combined immunodeficiency with sensorineural hearing loss; SCID with sensorineural hearing loss; De Vaal disease; Severe combined immunodeficiency with sensorineural deafness (ORPHA:33355)
Gene: AK2
Phenotype: Anemia (HP:0001903)
Associated disease: Reticular dysgenesis; AK2 deficiency; SCID with sensorineural deafness; Severe combined immunodeficiency with sensorineural hearing loss; SCID with sensorineural hearing loss; De Vaal disease; Severe combined immunodeficiency with sensorineural deafness (ORPHA:33355)
Gene: AK2
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: Reticular dysgenesis; AK2 deficiency; SCID with sensorineural deafness; Severe combined immunodeficiency with sensorineural hearing loss; SCID with sensorineural hearing loss; De Vaal disease; Severe combined immunodeficiency with sensorineural deafness (ORPHA:33355)
Gene: AK2
Phenotype: Hypoplasia of the thymus (HP:0000778)
Associated disease: RETICULAR DYSGENESIS (OMIM:267500)
Gene: AK2
Phenotype: Severe combined immunodeficiency (HP:0004430)
Associated disease: Reticular dysgenesis; AK2 deficiency; SCID with sensorineural deafness; Severe combined immunodeficiency with sensorineural hearing loss; SCID with sensorineural hearing loss; De Vaal disease; Severe combined immunodeficiency with sensorineural deafness (ORPHA:33355)
Gene: AK2
Phenotype: Abnormality of mitochondrial metabolism (HP:0003287)
Associated disease: Reticular dysgenesis; AK2 deficiency; SCID with sensorineural deafness; Severe combined immunodeficiency with sensorineural hearing loss; SCID with sensorineural hearing loss; De Vaal disease; Severe combined immunodeficiency with sensorineural deafness (ORPHA:33355)
Gene: AK2
Phenotype: Skin rash (HP:0000988)
Associated disease: Reticular dysgenesis; AK2 deficiency; SCID with sensorineural deafness; Severe combined immunodeficiency with sensorineural hearing loss; SCID with sensorineural hearing loss; De Vaal disease; Severe combined immunodeficiency with sensorineural deafness (ORPHA:33355)
Gene: AK2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Reticular dysgenesis; AK2 deficiency; SCID with sensorineural deafness; Severe combined immunodeficiency with sensorineural hearing loss; SCID with sensorineural hearing loss; De Vaal disease; Severe combined immunodeficiency with sensorineural deafness (ORPHA:33355)