TaoMedAI/RareMedData huggingface dataset:
Gene: WWOX
Phenotype: Epicanthus (HP:0000286)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28 (OMIM:616211)
Gene: WWOX
Phenotype: Abnormal sex determination (HP:0012244)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: WWOX
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28 (OMIM:616211)
Gene: WWOX
Phenotype: Microcephaly (HP:0000252)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 (OMIM:614322)
Gene: WWOX
Phenotype: Microcephaly (HP:0000252)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: WWOX
Phenotype: Microcephaly (HP:0000252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28 (OMIM:616211)
Gene: WWOX
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28 (OMIM:616211)
Gene: WWOX
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: WWOX
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: WWOX
Phenotype: Urinary bladder sphincter dysfunction (HP:0002839)
Associated disease: Autosomal recessive spinocerebellar ataxia type 12; SCAR12; Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency (ORPHA:284282)
Gene: WWOX
Phenotype: Growth delay (HP:0001510)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 (OMIM:614322)
Gene: WWOX
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28 (OMIM:616211)
Gene: WWOX
Phenotype: Abnormality of the voice (HP:0001608)
Associated disease: Esophageal epidermoid carcinoma; Esophageal squamous cell carcinoma; Squamous cell carcinoma of the esophagus; ESCC (ORPHA:99977)
Gene: WWOX
Phenotype: Narrow forehead (HP:0000341)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28 (OMIM:616211)
Gene: WWOX
Phenotype: Long philtrum (HP:0000343)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28 (OMIM:616211)
Gene: WWOX
Phenotype: High forehead (HP:0000348)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28 (OMIM:616211)
Gene: WWOX
Phenotype: High forehead (HP:0000348)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: WWOX
Phenotype: Micrognathia (HP:0000347)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28 (OMIM:616211)
Gene: WWOX
Phenotype: Round face (HP:0000311)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28 (OMIM:616211)
Gene: WWOX
Phenotype: Generalized clonic seizure (HP:0011169)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28 (OMIM:616211)
Gene: WWOX
Phenotype: Focal tonic seizure (HP:0011167)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28 (OMIM:616211)
Gene: WWOX
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: WWOX
Phenotype: Anteverted nares (HP:0000463)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28 (OMIM:616211)
Gene: WWOX
Phenotype: Brain atrophy (HP:0012444)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: WWOX
Phenotype: Abnormal myelination (HP:0012447)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: WWOX
Phenotype: Short neck (HP:0000470)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28 (OMIM:616211)
Gene: WWOX
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28 (OMIM:616211)
Gene: WWOX
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28 (OMIM:616211)
Gene: WWOX
Phenotype: Ptosis (HP:0000508)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: WWOX
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: WWOX
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28 (OMIM:616211)
Gene: WWOX
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28 (OMIM:616211)
Gene: WWOX
Phenotype: Abnormal involuntary eye movements (HP:0012547)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: WWOX
Phenotype: Clinodactyly of the 5th toe (HP:0001864)
Associated disease: Esophageal epidermoid carcinoma; Esophageal squamous cell carcinoma; Squamous cell carcinoma of the esophagus; ESCC (ORPHA:99977)
Gene: WWOX
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28 (OMIM:616211)
Gene: WWOX
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 (OMIM:614322)
Gene: WWOX
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CD244
Phenotype: Rheumatoid arthritis (HP:0001370)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: CD244
Phenotype: Joint swelling (HP:0001386)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: CD244
Phenotype: Joint stiffness (HP:0001387)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: CD244
Phenotype: Swan neck-like deformities of the fingers (HP:0006150)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: CD244
Phenotype: Vasculitis (HP:0002633)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: CD244
Phenotype: Interphalangeal joint erosions (HP:0006252)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: CD244
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: CD244
Phenotype: Fever (HP:0001945)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: CD244
Phenotype: Polyarticular arthritis (HP:0005764)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: CD244
Phenotype: Anti-citrullinated protein antibody positivity (HP:0033034)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: CD244
Phenotype: Digital flexor tenosynovitis (HP:0012276)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: CD244
Phenotype: Arthralgia (HP:0002829)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: CD244
Phenotype: Fatigue (HP:0012378)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: CD244
Phenotype: Rheumatoid factor positive (HP:0002923)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: CD244
Phenotype: Weight loss (HP:0001824)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: CD244
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: RTEL1
Phenotype: Honeycomb lung (HP:0025175)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: RTEL1
Phenotype: Ground-glass opacification (HP:0025179)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: RTEL1
Phenotype: Avascular necrosis (HP:0010885)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: RTEL1
Phenotype: Hypertonia (HP:0001276)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: RTEL1
Phenotype: Colitis (HP:0002583)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 (OMIM:615190)
Gene: RTEL1
Phenotype: Ataxia (HP:0001251)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: RTEL1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: RTEL1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: RTEL1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 (OMIM:615190)
Gene: RTEL1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: RTEL1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: RTEL1
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: RTEL1
Phenotype: Tracheoesophageal fistula (HP:0002575)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: RTEL1
Phenotype: Generalized hyperpigmentation (HP:0007440)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: RTEL1
Phenotype: Excessive wrinkled skin (HP:0007392)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: RTEL1
Phenotype: Urethral stenosis (HP:0008661)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: RTEL1
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: RTEL1
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: RTEL1
Phenotype: Variable expressivity (HP:0003828)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 (OMIM:615190)
Gene: RTEL1
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 (OMIM:616373)
Gene: RTEL1
Phenotype: Reduced forced vital capacity (HP:0032341)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: RTEL1
Phenotype: Reduced forced vital capacity (HP:0032341)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 (OMIM:616373)
Gene: RTEL1
Phenotype: Reduced forced expiratory volume in one second (HP:0032342)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 (OMIM:616373)
Gene: RTEL1
Phenotype: Hepatic failure (HP:0001399)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: RTEL1
Phenotype: Cirrhosis (HP:0001394)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: RTEL1
Phenotype: Abnormal testis morphology (HP:0000035)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: RTEL1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 (OMIM:615190)
Gene: RTEL1
Phenotype: Reticular pattern on pulmonary HRCT (HP:0025390)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: RTEL1
Phenotype: Neoplasm (HP:0002664)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: RTEL1
Phenotype: Neoplasm (HP:0002664)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: RTEL1
Phenotype: Abnormal morphology of female internal genitalia (HP:0000008)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: RTEL1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 (OMIM:615190)
Gene: RTEL1
Phenotype: Lymphoma (HP:0002665)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: RTEL1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 (OMIM:615190)
Gene: RTEL1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 (OMIM:616373)
Gene: RTEL1
Phenotype: Scoliosis (HP:0002650)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: RTEL1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: RTEL1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 (OMIM:615190)
Gene: RTEL1
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: RTEL1
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: RTEL1
Phenotype: Oral leukoplakia (HP:0002745)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: RTEL1
Phenotype: Oral leukoplakia (HP:0002745)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: RTEL1
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 (OMIM:615190)
Gene: RTEL1
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: RTEL1
Phenotype: Malabsorption (HP:0002024)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: RTEL1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: RTEL1
Phenotype: Pulmonic regurgitation (HP:0010444)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: RTEL1
Phenotype: Esophageal stenosis (HP:0010450)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: RTEL1
Phenotype: Esophageal stenosis (HP:0010450)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 (OMIM:615190)
Gene: RTEL1
Phenotype: Telangiectasia of the skin (HP:0100585)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: RTEL1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: RTEL1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: RTEL1
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: RTEL1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: RTEL1
Phenotype: Adult onset (HP:0003581)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 (OMIM:616373)
Gene: RTEL1
Phenotype: Premature graying of hair (HP:0002216)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: RTEL1
Phenotype: Premature graying of hair (HP:0002216)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: RTEL1
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: RTEL1
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: RTEL1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: RTEL1
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 (OMIM:616373)
Gene: RTEL1
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: RTEL1
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 (OMIM:615190)
Gene: RTEL1
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: RTEL1
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: RTEL1
Phenotype: Clubbing of fingers (HP:0100759)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: RTEL1
Phenotype: Orthodeoxia (HP:0033367)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: RTEL1
Phenotype: Aplastic/hypoplastic toenail (HP:0010624)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: RTEL1
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: RTEL1
Phenotype: Acrocyanosis (HP:0001063)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: RTEL1
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: RTEL1
Phenotype: Skin vesicle (HP:0200037)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: RTEL1
Phenotype: Coarse metaphyseal trabecularization (HP:0100670)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: RTEL1
Phenotype: Displacement of the urethral meatus (HP:0100627)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: RTEL1
Phenotype: Skin ulcer (HP:0200042)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: RTEL1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 (OMIM:615190)
Gene: RTEL1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: RTEL1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: RTEL1
Phenotype: Abnormality of coagulation (HP:0001928)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: RTEL1
Phenotype: Abnormality of coagulation (HP:0001928)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: RTEL1
Phenotype: Abnormality of the pharynx (HP:0000600)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: RTEL1
Phenotype: Anemia (HP:0001903)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: RTEL1
Phenotype: Anemia (HP:0001903)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: RTEL1
Phenotype: Generalized hypopigmentation of hair (HP:0011358)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: RTEL1
Phenotype: White hair (HP:0011364)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: RTEL1
Phenotype: Taurodontia (HP:0000679)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: RTEL1
Phenotype: Carious teeth (HP:0000670)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: RTEL1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: RTEL1
Phenotype: Short stature (HP:0004322)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: RTEL1
Phenotype: Short stature (HP:0004322)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: RTEL1
Phenotype: Dermal atrophy (HP:0004334)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: RTEL1
Phenotype: Usual interstitial pneumonia (HP:0031950)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: RTEL1
Phenotype: Usual interstitial pneumonia (HP:0031950)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 (OMIM:616373)
Gene: RTEL1
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 (OMIM:615190)
Gene: RTEL1
Phenotype: Cough (HP:0012735)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: RTEL1
Phenotype: Anorectal anomaly (HP:0012732)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: RTEL1
Phenotype: Macule (HP:0012733)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: RTEL1
Phenotype: Periodontitis (HP:0000704)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: RTEL1
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: RTEL1
Phenotype: Decreased DLCO (HP:0045051)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 (OMIM:616373)
Gene: RTEL1
Phenotype: Decreased DLCO (HP:0045051)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: RTEL1
Phenotype: Crackles (HP:0030830)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: RTEL1
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: RTEL1
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)