TaoMedAI/RareMedData huggingface dataset:
Gene: VPS33B
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 (OMIM:208085)
Gene: VPS33B
Phenotype: Abnormal alpha granules (HP:0012483)
Associated disease: Arthrogryposis-renal dysfunction-cholestasis syndrome; ARC syndrome (ORPHA:2697)
Gene: VPS33B
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: KERATODERMA-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE (OMIM:620009)
Gene: VPS33B
Phenotype: Splenomegaly (HP:0001744)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 12 (OMIM:620010)
Gene: VPS33B
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: KERATODERMA-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE (OMIM:620009)
Gene: VPS33B
Phenotype: Abnormal platelet aggregation (HP:0030402)
Associated disease: Arthrogryposis-renal dysfunction-cholestasis syndrome; ARC syndrome (ORPHA:2697)
Gene: VPS33B
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 (OMIM:208085)
Gene: VPS33B
Phenotype: Talipes calcaneovalgus (HP:0001884)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 (OMIM:208085)
Gene: VPS33B
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 (OMIM:208085)
Gene: TINF2
Phenotype: Epiphora (HP:0009926)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3 (OMIM:613990)
Gene: TINF2
Phenotype: Avascular necrosis (HP:0010885)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TINF2
Phenotype: Sporadic (HP:0003745)
Associated disease: REVESZ SYNDROME (OMIM:268130)
Gene: TINF2
Phenotype: Hypertonia (HP:0001276)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: TINF2
Phenotype: Hypertonia (HP:0001276)
Associated disease: REVESZ SYNDROME (OMIM:268130)
Gene: TINF2
Phenotype: Seizure (HP:0001250)
Associated disease: Revesz-DeBuse syndrome; Retinopathy-anemia-central nervous system anomalies syndrome; Dyskeratosis congenita with bilateral exudative retinopathy; Revesz syndrome (ORPHA:3088)
Gene: TINF2
Phenotype: Ataxia (HP:0001251)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 (OMIM:127550)
Gene: TINF2
Phenotype: Ataxia (HP:0001251)
Associated disease: REVESZ SYNDROME (OMIM:268130)
Gene: TINF2
Phenotype: Ataxia (HP:0001251)
Associated disease: Revesz-DeBuse syndrome; Retinopathy-anemia-central nervous system anomalies syndrome; Dyskeratosis congenita with bilateral exudative retinopathy; Revesz syndrome (ORPHA:3088)
Gene: TINF2
Phenotype: Ataxia (HP:0001251)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3 (OMIM:613990)
Gene: TINF2
Phenotype: Ataxia (HP:0001251)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: TINF2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: TINF2
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: TINF2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: TINF2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: REVESZ SYNDROME (OMIM:268130)
Gene: TINF2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TINF2
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TINF2
Phenotype: Tracheoesophageal fistula (HP:0002575)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TINF2
Phenotype: Generalized hyperpigmentation (HP:0007440)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: TINF2
Phenotype: Reticulated skin pigmentation (HP:0007427)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3 (OMIM:613990)
Gene: TINF2
Phenotype: Excessive wrinkled skin (HP:0007392)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: TINF2
Phenotype: Urethral stenosis (HP:0008661)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3 (OMIM:613990)
Gene: TINF2
Phenotype: Urethral stenosis (HP:0008661)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TINF2
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: REVESZ SYNDROME (OMIM:268130)
Gene: TINF2
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3 (OMIM:613990)
Gene: TINF2
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: TINF2
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TINF2
Phenotype: Hepatic failure (HP:0001399)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TINF2
Phenotype: Cirrhosis (HP:0001394)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 (OMIM:127550)
Gene: TINF2
Phenotype: Cirrhosis (HP:0001394)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TINF2
Phenotype: Abnormal testis morphology (HP:0000035)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TINF2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3 (OMIM:613990)
Gene: TINF2
Phenotype: Neoplasm (HP:0002664)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: TINF2
Phenotype: Neoplasm (HP:0002664)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TINF2
Phenotype: Specific learning disability (HP:0001328)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 (OMIM:127550)
Gene: TINF2
Phenotype: Abnormal morphology of female internal genitalia (HP:0000008)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TINF2
Phenotype: Lymphoma (HP:0002665)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TINF2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3 (OMIM:613990)
Gene: TINF2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 (OMIM:127550)
Gene: TINF2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: REVESZ SYNDROME (OMIM:268130)
Gene: TINF2
Phenotype: Budd-Chiari syndrome (HP:0002639)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 (OMIM:127550)
Gene: TINF2
Phenotype: Scoliosis (HP:0002650)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TINF2
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3 (OMIM:613990)
Gene: TINF2
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: TINF2
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: REVESZ SYNDROME (OMIM:268130)
Gene: TINF2
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 (OMIM:127550)
Gene: TINF2
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: Revesz-DeBuse syndrome; Retinopathy-anemia-central nervous system anomalies syndrome; Dyskeratosis congenita with bilateral exudative retinopathy; Revesz syndrome (ORPHA:3088)
Gene: TINF2
Phenotype: Hepatic necrosis (HP:0002605)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 (OMIM:127550)
Gene: TINF2
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TINF2
Phenotype: Fine, reticulate skin pigmentation (HP:0007617)
Associated disease: REVESZ SYNDROME (OMIM:268130)
Gene: TINF2
Phenotype: Fine, reticulate skin pigmentation (HP:0007617)
Associated disease: Revesz-DeBuse syndrome; Retinopathy-anemia-central nervous system anomalies syndrome; Dyskeratosis congenita with bilateral exudative retinopathy; Revesz syndrome (ORPHA:3088)
Gene: TINF2
Phenotype: Reticular hyperpigmentation (HP:0007588)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 (OMIM:127550)
Gene: TINF2
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TINF2
Phenotype: Oral leukoplakia (HP:0002745)
Associated disease: REVESZ SYNDROME (OMIM:268130)
Gene: TINF2
Phenotype: Oral leukoplakia (HP:0002745)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3 (OMIM:613990)
Gene: TINF2
Phenotype: Oral leukoplakia (HP:0002745)
Associated disease: Revesz-DeBuse syndrome; Retinopathy-anemia-central nervous system anomalies syndrome; Dyskeratosis congenita with bilateral exudative retinopathy; Revesz syndrome (ORPHA:3088)
Gene: TINF2
Phenotype: Oral leukoplakia (HP:0002745)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: TINF2
Phenotype: Oral leukoplakia (HP:0002745)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TINF2
Phenotype: Oral leukoplakia (HP:0002745)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 (OMIM:127550)
Gene: TINF2
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: TINF2
Phenotype: Malabsorption (HP:0002024)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TINF2
Phenotype: Dyspnea (HP:0002094)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 (OMIM:127550)
Gene: TINF2
Phenotype: Esophageal stricture (HP:0002043)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3 (OMIM:613990)
Gene: TINF2
Phenotype: Esophageal stenosis (HP:0010450)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TINF2
Phenotype: Telangiectasia of the skin (HP:0100585)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TINF2
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: TINF2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: TINF2
Phenotype: Broad-based gait (HP:0002136)
Associated disease: REVESZ SYNDROME (OMIM:268130)
Gene: TINF2
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3 (OMIM:613990)
Gene: TINF2
Phenotype: Infantile onset (HP:0003593)
Associated disease: REVESZ SYNDROME (OMIM:268130)
Gene: TINF2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TINF2
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3 (OMIM:613990)
Gene: TINF2
Phenotype: Premature graying of hair (HP:0002216)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 (OMIM:127550)
Gene: TINF2
Phenotype: Premature graying of hair (HP:0002216)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3 (OMIM:613990)
Gene: TINF2
Phenotype: Premature graying of hair (HP:0002216)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: TINF2
Phenotype: Premature graying of hair (HP:0002216)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TINF2
Phenotype: Fine hair (HP:0002213)
Associated disease: REVESZ SYNDROME (OMIM:268130)
Gene: TINF2
Phenotype: Fine hair (HP:0002213)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3 (OMIM:613990)
Gene: TINF2
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: TINF2
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TINF2
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 (OMIM:127550)
Gene: TINF2
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3 (OMIM:613990)
Gene: TINF2
Phenotype: Ridged fingernail (HP:0008402)
Associated disease: REVESZ SYNDROME (OMIM:268130)
Gene: TINF2
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: REVESZ SYNDROME (OMIM:268130)
Gene: TINF2
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 (OMIM:127550)
Gene: TINF2
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3 (OMIM:613990)
Gene: TINF2
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: Revesz-DeBuse syndrome; Retinopathy-anemia-central nervous system anomalies syndrome; Dyskeratosis congenita with bilateral exudative retinopathy; Revesz syndrome (ORPHA:3088)
Gene: TINF2
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: TINF2
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TINF2
Phenotype: Intracranial calcification (HP:0430048)
Associated disease: Revesz-DeBuse syndrome; Retinopathy-anemia-central nervous system anomalies syndrome; Dyskeratosis congenita with bilateral exudative retinopathy; Revesz syndrome (ORPHA:3088)
Gene: TINF2
Phenotype: Aplastic/hypoplastic toenail (HP:0010624)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TINF2
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TINF2
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TINF2
Phenotype: Poor coordination (HP:0002370)
Associated disease: REVESZ SYNDROME (OMIM:268130)
Gene: TINF2
Phenotype: Progressive neurologic deterioration (HP:0002344)
Associated disease: REVESZ SYNDROME (OMIM:268130)
Gene: TINF2
Phenotype: Skin vesicle (HP:0200037)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TINF2
Phenotype: Coarse metaphyseal trabecularization (HP:0100670)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TINF2
Phenotype: Displacement of the urethral meatus (HP:0100627)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TINF2
Phenotype: Skin ulcer (HP:0200042)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TINF2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3 (OMIM:613990)
Gene: TINF2
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: REVESZ SYNDROME (OMIM:268130)
Gene: TINF2
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 (OMIM:127550)
Gene: TINF2
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3 (OMIM:613990)
Gene: TINF2
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: Revesz-DeBuse syndrome; Retinopathy-anemia-central nervous system anomalies syndrome; Dyskeratosis congenita with bilateral exudative retinopathy; Revesz syndrome (ORPHA:3088)
Gene: TINF2
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: TINF2
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TINF2
Phenotype: Increased mean corpuscular volume (HP:0005518)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 (OMIM:127550)
Gene: TINF2
Phenotype: Nystagmus (HP:0000639)
Associated disease: REVESZ SYNDROME (OMIM:268130)
Gene: TINF2
Phenotype: Macrocytic anemia (HP:0001972)
Associated disease: REVESZ SYNDROME (OMIM:268130)
Gene: TINF2
Phenotype: Macrocytic anemia (HP:0001972)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3 (OMIM:613990)
Gene: TINF2
Phenotype: Abnormality of coagulation (HP:0001928)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: TINF2
Phenotype: Abnormality of coagulation (HP:0001928)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TINF2
Phenotype: Abnormality of the pharynx (HP:0000600)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TINF2
Phenotype: Anemia (HP:0001903)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3 (OMIM:613990)
Gene: TINF2
Phenotype: Anemia (HP:0001903)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: TINF2
Phenotype: Anemia (HP:0001903)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 (OMIM:127550)
Gene: TINF2
Phenotype: Anemia (HP:0001903)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TINF2
Phenotype: Aplastic anemia (HP:0001915)
Associated disease: REVESZ SYNDROME (OMIM:268130)
Gene: TINF2
Phenotype: Aplastic anemia (HP:0001915)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3 (OMIM:613990)
Gene: TINF2
Phenotype: Aplastic anemia (HP:0001915)
Associated disease: Revesz-DeBuse syndrome; Retinopathy-anemia-central nervous system anomalies syndrome; Dyskeratosis congenita with bilateral exudative retinopathy; Revesz syndrome (ORPHA:3088)
Gene: TINF2
Phenotype: Aplastic anemia (HP:0001915)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 (OMIM:127550)
Gene: TINF2
Phenotype: Generalized hypopigmentation of hair (HP:0011358)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: TINF2
Phenotype: White hair (HP:0011364)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TINF2
Phenotype: Taurodontia (HP:0000679)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TINF2
Phenotype: Carious teeth (HP:0000670)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 (OMIM:127550)
Gene: TINF2
Phenotype: Carious teeth (HP:0000670)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TINF2
Phenotype: Hypodontia (HP:0000668)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TINF2
Phenotype: Short stature (HP:0004322)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: TINF2
Phenotype: Short stature (HP:0004322)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3 (OMIM:613990)
Gene: TINF2
Phenotype: Short stature (HP:0004322)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TINF2
Phenotype: Dermal atrophy (HP:0004334)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 (OMIM:127550)
Gene: TINF2
Phenotype: Dermal atrophy (HP:0004334)
Associated disease: Revesz-DeBuse syndrome; Retinopathy-anemia-central nervous system anomalies syndrome; Dyskeratosis congenita with bilateral exudative retinopathy; Revesz syndrome (ORPHA:3088)
Gene: TINF2
Phenotype: Dermal atrophy (HP:0004334)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: TINF2
Phenotype: Anorectal anomaly (HP:0012732)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TINF2
Phenotype: Macule (HP:0012733)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TINF2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3 (OMIM:613990)
Gene: TINF2
Phenotype: Periodontitis (HP:0000704)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TINF2
Phenotype: Childhood onset (HP:0011463)
Associated disease: REVESZ SYNDROME (OMIM:268130)
Gene: TINF2
Phenotype: Childhood onset (HP:0011463)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3 (OMIM:613990)
Gene: TINF2
Phenotype: Young adult onset (HP:0011462)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3 (OMIM:613990)
Gene: TINF2
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Revesz-DeBuse syndrome; Retinopathy-anemia-central nervous system anomalies syndrome; Dyskeratosis congenita with bilateral exudative retinopathy; Revesz syndrome (ORPHA:3088)
Gene: TINF2
Phenotype: Avascular necrosis of the capital femoral epiphysis (HP:0005743)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3 (OMIM:613990)
Gene: TINF2
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TINF2
Phenotype: Decreased DLCO (HP:0045051)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3 (OMIM:613990)
Gene: TINF2
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TINF2
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TINF2
Phenotype: Dry skin (HP:0000958)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3 (OMIM:613990)
Gene: TINF2
Phenotype: Osteoporosis (HP:0000939)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3 (OMIM:613990)
Gene: TINF2
Phenotype: Osteoporosis (HP:0000939)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 (OMIM:127550)
Gene: TINF2
Phenotype: Osteoporosis (HP:0000939)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TINF2
Phenotype: Osteopenia (HP:0000938)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3 (OMIM:613990)