TaoMedAI/RareMedData huggingface dataset:
Gene: DIO1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: THYROID HORMONE METABOLISM, ABNORMAL, 2 (OMIM:619855)
Gene: DIO1
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: THYROID HORMONE METABOLISM, ABNORMAL, 2 (OMIM:619855)
Gene: DIO1
Phenotype: Elevated circulating rT3/T3 ratio (HP:0034289)
Associated disease: THYROID HORMONE METABOLISM, ABNORMAL, 2 (OMIM:619855)
Gene: DIO1
Phenotype: Elevated circulating reverse T3 concentration (HP:0034288)
Associated disease: THYROID HORMONE METABOLISM, ABNORMAL, 2 (OMIM:619855)
Gene: DKC1
Phenotype: Epiphora (HP:0009926)
Associated disease: DYSKERATOSIS CONGENITA, X-LINKED (OMIM:305000)
Gene: DKC1
Phenotype: Avascular necrosis (HP:0010885)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: DKC1
Phenotype: Hypertonia (HP:0001276)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: DKC1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: CATARACTS, HEARING IMPAIRMENT, NEPHROTIC SYNDROME, AND ENTEROCOLITIS 1 (OMIM:301108)
Gene: DKC1
Phenotype: Ataxia (HP:0001251)
Associated disease: DYSKERATOSIS CONGENITA, X-LINKED (OMIM:305000)
Gene: DKC1
Phenotype: Ataxia (HP:0001251)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: DKC1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: DKC1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DYSKERATOSIS CONGENITA, X-LINKED (OMIM:305000)
Gene: DKC1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: DKC1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: DKC1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DYSKERATOSIS CONGENITA, X-LINKED (OMIM:305000)
Gene: DKC1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: DKC1
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: DKC1
Phenotype: Tracheoesophageal fistula (HP:0002575)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: DKC1
Phenotype: Generalized hyperpigmentation (HP:0007440)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: DKC1
Phenotype: Reticulated skin pigmentation (HP:0007427)
Associated disease: DYSKERATOSIS CONGENITA, X-LINKED (OMIM:305000)
Gene: DKC1
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: DYSKERATOSIS CONGENITA, X-LINKED (OMIM:305000)
Gene: DKC1
Phenotype: Excessive wrinkled skin (HP:0007392)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: DKC1
Phenotype: Urethral stenosis (HP:0008661)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: DKC1
Phenotype: Urethral stenosis (HP:0008661)
Associated disease: DYSKERATOSIS CONGENITA, X-LINKED (OMIM:305000)
Gene: DKC1
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: DKC1
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: DKC1
Phenotype: Death in childhood (HP:0003819)
Associated disease: CATARACTS, HEARING IMPAIRMENT, NEPHROTIC SYNDROME, AND ENTEROCOLITIS 1 (OMIM:301108)
Gene: DKC1
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: DYSKERATOSIS CONGENITA, X-LINKED (OMIM:305000)
Gene: DKC1
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: CATARACTS, HEARING IMPAIRMENT, NEPHROTIC SYNDROME, AND ENTEROCOLITIS 1 (OMIM:301108)
Gene: DKC1
Phenotype: Hepatic failure (HP:0001399)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: DKC1
Phenotype: Cirrhosis (HP:0001394)
Associated disease: DYSKERATOSIS CONGENITA, X-LINKED (OMIM:305000)
Gene: DKC1
Phenotype: Cirrhosis (HP:0001394)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: DKC1
Phenotype: Hypospadias (HP:0000047)
Associated disease: DYSKERATOSIS CONGENITA, X-LINKED (OMIM:305000)
Gene: DKC1
Phenotype: Abnormal testis morphology (HP:0000035)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: DKC1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: DYSKERATOSIS CONGENITA, X-LINKED (OMIM:305000)
Gene: DKC1
Phenotype: Neoplasm (HP:0002664)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: DKC1
Phenotype: Neoplasm (HP:0002664)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: DKC1
Phenotype: Abnormal morphology of female internal genitalia (HP:0000008)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: DKC1
Phenotype: Lymphoma (HP:0002665)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: DKC1
Phenotype: Scoliosis (HP:0002650)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: DKC1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: DYSKERATOSIS CONGENITA, X-LINKED (OMIM:305000)
Gene: DKC1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: DKC1
Phenotype: Hodgkin lymphoma (HP:0012189)
Associated disease: DYSKERATOSIS CONGENITA, X-LINKED (OMIM:305000)
Gene: DKC1
Phenotype: Oropharyngeal squamous cell carcinoma (HP:0012182)
Associated disease: DYSKERATOSIS CONGENITA, X-LINKED (OMIM:305000)
Gene: DKC1
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: DKC1
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: CATARACTS, HEARING IMPAIRMENT, NEPHROTIC SYNDROME, AND ENTEROCOLITIS 1 (OMIM:301108)
Gene: DKC1
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: DKC1
Phenotype: X-linked dominant inheritance (HP:0001423)
Associated disease: CATARACTS, HEARING IMPAIRMENT, NEPHROTIC SYNDROME, AND ENTEROCOLITIS 1 (OMIM:301108)
Gene: DKC1
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: DYSKERATOSIS CONGENITA, X-LINKED (OMIM:305000)
Gene: DKC1
Phenotype: Oral leukoplakia (HP:0002745)
Associated disease: DYSKERATOSIS CONGENITA, X-LINKED (OMIM:305000)
Gene: DKC1
Phenotype: Oral leukoplakia (HP:0002745)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: DKC1
Phenotype: Oral leukoplakia (HP:0002745)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: DKC1
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: DYSKERATOSIS CONGENITA, X-LINKED (OMIM:305000)
Gene: DKC1
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: DKC1
Phenotype: Malabsorption (HP:0002024)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: DKC1
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: DYSKERATOSIS CONGENITA, X-LINKED (OMIM:305000)
Gene: DKC1
Phenotype: Esophageal stricture (HP:0002043)
Associated disease: DYSKERATOSIS CONGENITA, X-LINKED (OMIM:305000)
Gene: DKC1
Phenotype: Esophageal stenosis (HP:0010450)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: DKC1
Phenotype: Telangiectasia of the skin (HP:0100585)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: DKC1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: DKC1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: DKC1
Phenotype: Nail pterygium (HP:0002165)
Associated disease: DYSKERATOSIS CONGENITA, X-LINKED (OMIM:305000)
Gene: DKC1
Phenotype: Infantile onset (HP:0003593)
Associated disease: CATARACTS, HEARING IMPAIRMENT, NEPHROTIC SYNDROME, AND ENTEROCOLITIS 1 (OMIM:301108)
Gene: DKC1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: DKC1
Phenotype: Premature graying of hair (HP:0002216)
Associated disease: DYSKERATOSIS CONGENITA, X-LINKED (OMIM:305000)
Gene: DKC1
Phenotype: Premature graying of hair (HP:0002216)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: DKC1
Phenotype: Premature graying of hair (HP:0002216)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: DKC1
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: DKC1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: DKC1
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: DYSKERATOSIS CONGENITA, X-LINKED (OMIM:305000)
Gene: DKC1
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: DYSKERATOSIS CONGENITA, X-LINKED (OMIM:305000)
Gene: DKC1
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: DKC1
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: DKC1
Phenotype: Aplastic/hypoplastic toenail (HP:0010624)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: DKC1
Phenotype: Acute myeloid leukemia (HP:0004808)
Associated disease: DYSKERATOSIS CONGENITA, X-LINKED (OMIM:305000)
Gene: DKC1
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: DKC1
Phenotype: Pterygium (HP:0001059)
Associated disease: DYSKERATOSIS CONGENITA, X-LINKED (OMIM:305000)
Gene: DKC1
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: DKC1
Phenotype: Skin vesicle (HP:0200037)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: DKC1
Phenotype: Coarse metaphyseal trabecularization (HP:0100670)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: DKC1
Phenotype: Displacement of the urethral meatus (HP:0100627)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: DKC1
Phenotype: Skin ulcer (HP:0200042)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: DKC1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: DYSKERATOSIS CONGENITA, X-LINKED (OMIM:305000)
Gene: DKC1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CATARACTS, HEARING IMPAIRMENT, NEPHROTIC SYNDROME, AND ENTEROCOLITIS 1 (OMIM:301108)
Gene: DKC1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: DYSKERATOSIS CONGENITA, X-LINKED (OMIM:305000)
Gene: DKC1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CATARACTS, HEARING IMPAIRMENT, NEPHROTIC SYNDROME, AND ENTEROCOLITIS 1 (OMIM:301108)
Gene: DKC1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: DKC1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: DKC1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: DYSKERATOSIS CONGENITA, X-LINKED (OMIM:305000)
Gene: DKC1
Phenotype: Abnormality of coagulation (HP:0001928)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: DKC1
Phenotype: Abnormality of coagulation (HP:0001928)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: DKC1
Phenotype: Abnormality of the pharynx (HP:0000600)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: DKC1
Phenotype: Anemia (HP:0001903)
Associated disease: DYSKERATOSIS CONGENITA, X-LINKED (OMIM:305000)
Gene: DKC1
Phenotype: Anemia (HP:0001903)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: DKC1
Phenotype: Anemia (HP:0001903)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: DKC1
Phenotype: Generalized hypopigmentation of hair (HP:0011358)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: DKC1
Phenotype: White hair (HP:0011364)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: DKC1
Phenotype: Decreased pineal volume (HP:0012685)
Associated disease: CATARACTS, HEARING IMPAIRMENT, NEPHROTIC SYNDROME, AND ENTEROCOLITIS 1 (OMIM:301108)
Gene: DKC1
Phenotype: Taurodontia (HP:0000679)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: DKC1
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: DYSKERATOSIS CONGENITA, X-LINKED (OMIM:305000)
Gene: DKC1
Phenotype: Carious teeth (HP:0000670)
Associated disease: DYSKERATOSIS CONGENITA, X-LINKED (OMIM:305000)
Gene: DKC1
Phenotype: Carious teeth (HP:0000670)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: DKC1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: DKC1
Phenotype: Short stature (HP:0004322)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: DKC1
Phenotype: Short stature (HP:0004322)
Associated disease: DYSKERATOSIS CONGENITA, X-LINKED (OMIM:305000)
Gene: DKC1
Phenotype: Short stature (HP:0004322)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: DKC1
Phenotype: Dermal atrophy (HP:0004334)
Associated disease: DYSKERATOSIS CONGENITA, X-LINKED (OMIM:305000)
Gene: DKC1
Phenotype: Dermal atrophy (HP:0004334)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: DKC1
Phenotype: Enterocolitis (HP:0004387)
Associated disease: CATARACTS, HEARING IMPAIRMENT, NEPHROTIC SYNDROME, AND ENTEROCOLITIS 1 (OMIM:301108)
Gene: DKC1
Phenotype: Anorectal anomaly (HP:0012732)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: DKC1
Phenotype: Macule (HP:0012733)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: DKC1
Phenotype: Periodontitis (HP:0000704)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: DKC1
Phenotype: Childhood onset (HP:0011463)
Associated disease: CATARACTS, HEARING IMPAIRMENT, NEPHROTIC SYNDROME, AND ENTEROCOLITIS 1 (OMIM:301108)
Gene: DKC1
Phenotype: Carcinoma (HP:0030731)
Associated disease: DYSKERATOSIS CONGENITA, X-LINKED (OMIM:305000)
Gene: DKC1
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: DKC1
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: DYSKERATOSIS CONGENITA, X-LINKED (OMIM:305000)
Gene: DKC1
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: DKC1
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: DKC1
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: DYSKERATOSIS CONGENITA, X-LINKED (OMIM:305000)
Gene: DKC1
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: CATARACTS, HEARING IMPAIRMENT, NEPHROTIC SYNDROME, AND ENTEROCOLITIS 1 (OMIM:301108)
Gene: DKC1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: DYSKERATOSIS CONGENITA, X-LINKED (OMIM:305000)
Gene: DKC1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: DKC1
Phenotype: Sparse hair (HP:0008070)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: DKC1
Phenotype: Aplasia/Hypoplasia of the skin (HP:0008065)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: DKC1
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: DKC1
Phenotype: Alopecia (HP:0001596)
Associated disease: DYSKERATOSIS CONGENITA, X-LINKED (OMIM:305000)
Gene: DKC1
Phenotype: Alopecia (HP:0001596)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: DKC1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: DKC1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DYSKERATOSIS CONGENITA, X-LINKED (OMIM:305000)
Gene: DKC1
Phenotype: Neoplasm of the pancreas (HP:0002894)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: DKC1
Phenotype: Squamous cell carcinoma (HP:0002860)
Associated disease: DYSKERATOSIS CONGENITA, X-LINKED (OMIM:305000)
Gene: DKC1
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: DYSKERATOSIS CONGENITA, X-LINKED (OMIM:305000)
Gene: DKC1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: DKC1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CATARACTS, HEARING IMPAIRMENT, NEPHROTIC SYNDROME, AND ENTEROCOLITIS 1 (OMIM:301108)
Gene: DKC1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DYSKERATOSIS CONGENITA, X-LINKED (OMIM:305000)
Gene: DKC1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: DKC1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: DKC1
Phenotype: Anal mucosal leukoplakia (HP:0005212)
Associated disease: DYSKERATOSIS CONGENITA, X-LINKED (OMIM:305000)
Gene: DKC1
Phenotype: Premature loss of teeth (HP:0006480)
Associated disease: DYSKERATOSIS CONGENITA, X-LINKED (OMIM:305000)
Gene: DKC1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CATARACTS, HEARING IMPAIRMENT, NEPHROTIC SYNDROME, AND ENTEROCOLITIS 1 (OMIM:301108)
Gene: DKC1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: DKC1
Phenotype: Micrognathia (HP:0000347)
Associated disease: CATARACTS, HEARING IMPAIRMENT, NEPHROTIC SYNDROME, AND ENTEROCOLITIS 1 (OMIM:301108)
Gene: DKC1
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: CATARACTS, HEARING IMPAIRMENT, NEPHROTIC SYNDROME, AND ENTEROCOLITIS 1 (OMIM:301108)
Gene: DKC1
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: DKC1
Phenotype: Abnormal eyelash morphology (HP:0000499)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: DKC1
Phenotype: Blepharitis (HP:0000498)
Associated disease: DYSKERATOSIS CONGENITA, X-LINKED (OMIM:305000)
Gene: DKC1
Phenotype: Blepharitis (HP:0000498)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: DKC1
Phenotype: Cellular immunodeficiency (HP:0005374)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: DKC1
Phenotype: Strabismus (HP:0000486)
Associated disease: DYSKERATOSIS CONGENITA, X-LINKED (OMIM:305000)
Gene: DKC1
Phenotype: Phimosis (HP:0001741)
Associated disease: DYSKERATOSIS CONGENITA, X-LINKED (OMIM:305000)
Gene: DKC1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: DKC1
Phenotype: Cataract (HP:0000518)
Associated disease: DYSKERATOSIS CONGENITA, X-LINKED (OMIM:305000)
Gene: DKC1
Phenotype: Cataract (HP:0000518)
Associated disease: CATARACTS, HEARING IMPAIRMENT, NEPHROTIC SYNDROME, AND ENTEROCOLITIS 1 (OMIM:301108)
Gene: DKC1
Phenotype: Cataract (HP:0000518)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: DKC1
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: DYSKERATOSIS CONGENITA, X-LINKED (OMIM:305000)
Gene: DKC1
Phenotype: Glaucoma (HP:0000501)
Associated disease: CATARACTS, HEARING IMPAIRMENT, NEPHROTIC SYNDROME, AND ENTEROCOLITIS 1 (OMIM:301108)
Gene: DKC1
Phenotype: Split nail (HP:0001809)
Associated disease: DYSKERATOSIS CONGENITA, X-LINKED (OMIM:305000)
Gene: DKC1
Phenotype: Ridged nail (HP:0001807)
Associated disease: DYSKERATOSIS CONGENITA, X-LINKED (OMIM:305000)
Gene: DKC1
Phenotype: Mild proteinuria (HP:0012595)
Associated disease: CATARACTS, HEARING IMPAIRMENT, NEPHROTIC SYNDROME, AND ENTEROCOLITIS 1 (OMIM:301108)
Gene: DKC1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: CATARACTS, HEARING IMPAIRMENT, NEPHROTIC SYNDROME, AND ENTEROCOLITIS 1 (OMIM:301108)
Gene: DKC1
Phenotype: Abnormal eyebrow morphology (HP:0000534)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: DKC1
Phenotype: Abnormal leukocyte morphology (HP:0001881)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: DKC1
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: DYSKERATOSIS CONGENITA, X-LINKED (OMIM:305000)
Gene: DKC1
Phenotype: Abnormality of neutrophils (HP:0001874)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: DKC1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: DYSKERATOSIS CONGENITA, X-LINKED (OMIM:305000)