TaoMedAI/RareMedData huggingface dataset:
Gene: CRIPTO
Phenotype: Chronic lung disease (HP:0006528)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: CRIPTO
Phenotype: Chronic lung disease (HP:0006528)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: CRIPTO
Phenotype: Chronic lung disease (HP:0006528)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: CRIPTO
Phenotype: Chronic lung disease (HP:0006528)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: CRIPTO
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: CRIPTO
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: CRIPTO
Phenotype: Short philtrum (HP:0000322)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: CRIPTO
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: CRIPTO
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: CRIPTO
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: CRIPTO
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: CRIPTO
Phenotype: Premature birth (HP:0001622)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: CRIPTO
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: CRIPTO
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: CRIPTO
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: CRIPTO
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: CRIPTO
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: CRIPTO
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: CRIPTO
Phenotype: Strabismus (HP:0000486)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: CRIPTO
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: CRIPTO
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: CRIPTO
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: CRIPTO
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: CRIPTO
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: CRIPTO
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: CRIPTO
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: CRIPTO
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: CRIPTO
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: CRIPTO
Phenotype: Choanal atresia (HP:0000453)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: CRIPTO
Phenotype: Narrow nasal bridge (HP:0000446)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: CRIPTO
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: TDO2
Phenotype: Adducted thumb (HP:0001181)
Associated disease: HYPERTRYPTOPHANEMIA (OMIM:600627)
Gene: TDO2
Phenotype: Hypertryptophanemia (HP:0500134)
Associated disease: Hypertryptophanemia (ORPHA:2224)
Gene: TDO2
Phenotype: Hypertryptophanemia (HP:0500134)
Associated disease: HYPERTRYPTOPHANEMIA (OMIM:600627)
Gene: TDO2
Phenotype: Stuttering (HP:0025268)
Associated disease: HYPERTRYPTOPHANEMIA (OMIM:600627)
Gene: TDO2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: HYPERTRYPTOPHANEMIA (OMIM:600627)
Gene: TDO2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HYPERTRYPTOPHANEMIA (OMIM:600627)
Gene: TDO2
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: HYPERTRYPTOPHANEMIA (OMIM:600627)
Gene: TDO2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPERTRYPTOPHANEMIA (OMIM:600627)
Gene: TDO2
Phenotype: Generalized joint hypermobility (HP:0002761)
Associated disease: HYPERTRYPTOPHANEMIA (OMIM:600627)
Gene: TDO2
Phenotype: Tryptophanuria (HP:0003361)
Associated disease: Hypertryptophanemia (ORPHA:2224)
Gene: TDO2
Phenotype: Tryptophanuria (HP:0003361)
Associated disease: HYPERTRYPTOPHANEMIA (OMIM:600627)
Gene: TDO2
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: HYPERTRYPTOPHANEMIA (OMIM:600627)
Gene: TDO2
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: HYPERTRYPTOPHANEMIA (OMIM:600627)
Gene: TDO2
Phenotype: Neonatal onset (HP:0003623)
Associated disease: HYPERTRYPTOPHANEMIA (OMIM:600627)
Gene: TDO2
Phenotype: Amplification of sexual behavior (HP:5200321)
Associated disease: HYPERTRYPTOPHANEMIA (OMIM:600627)
Gene: TDO2
Phenotype: Depression (HP:0000716)
Associated disease: HYPERTRYPTOPHANEMIA (OMIM:600627)
Gene: TDO2
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: HYPERTRYPTOPHANEMIA (OMIM:600627)
Gene: TDO2
Phenotype: Emotional lability (HP:0000712)
Associated disease: HYPERTRYPTOPHANEMIA (OMIM:600627)
Gene: TDO2
Phenotype: Increased serum serotonin (HP:0003144)
Associated disease: HYPERTRYPTOPHANEMIA (OMIM:600627)
Gene: TDO2
Phenotype: Increased serum serotonin (HP:0003144)
Associated disease: Hypertryptophanemia (ORPHA:2224)
Gene: TDO2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: HYPERTRYPTOPHANEMIA (OMIM:600627)
Gene: TDO2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: HYPERTRYPTOPHANEMIA (OMIM:600627)
Gene: TDO2
Phenotype: Strabismus (HP:0000486)
Associated disease: HYPERTRYPTOPHANEMIA (OMIM:600627)
Gene: TDO2
Phenotype: Pes planus (HP:0001763)
Associated disease: HYPERTRYPTOPHANEMIA (OMIM:600627)
Gene: TDO2
Phenotype: Visual impairment (HP:0000505)
Associated disease: HYPERTRYPTOPHANEMIA (OMIM:600627)
Gene: TDO2
Phenotype: Myopia (HP:0000545)
Associated disease: HYPERTRYPTOPHANEMIA (OMIM:600627)
Gene: TEAD1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TEAD1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TEAD1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TEAD1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SVEINSSON CHORIORETINAL ATROPHY (OMIM:108985)
Gene: TEAD1
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TEAD1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TEAD1
Phenotype: Slowly progressive (HP:0003677)
Associated disease: SVEINSSON CHORIORETINAL ATROPHY (OMIM:108985)
Gene: TEAD1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TEAD1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TEAD1
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TEAD1
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TEAD1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TEAD1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TEAD1
Phenotype: Peripapillary chorioretinal atrophy (HP:0007950)
Associated disease: SVEINSSON CHORIORETINAL ATROPHY (OMIM:108985)
Gene: TEAD1
Phenotype: Astigmatism (HP:0000483)
Associated disease: SVEINSSON CHORIORETINAL ATROPHY (OMIM:108985)
Gene: TEAD1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TEAD1
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TEAD1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TEAD1
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TEAD1
Phenotype: Myopia (HP:0000545)
Associated disease: SVEINSSON CHORIORETINAL ATROPHY (OMIM:108985)
Gene: TECTA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 21 (OMIM:603629)
Gene: TECTA
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 12 (OMIM:601543)
Gene: TECTA
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 21 (OMIM:603629)
Gene: TECTA
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 12 (OMIM:601543)
Gene: TEK
Phenotype: Epiphora (HP:0009926)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: TEK
Phenotype: Intestinal bleeding (HP:0002584)
Associated disease: Bean syndrome; BRBN; Blue rubber bleb nevus (ORPHA:1059)
Gene: TEK
Phenotype: Intestinal bleeding (HP:0002584)
Associated disease: VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL (OMIM:600195)
Gene: TEK
Phenotype: Volvulus (HP:0002580)
Associated disease: Bean syndrome; BRBN; Blue rubber bleb nevus (ORPHA:1059)
Gene: TEK
Phenotype: Abnormality of the vasculature (HP:0002597)
Associated disease: Bean syndrome; BRBN; Blue rubber bleb nevus (ORPHA:1059)
Gene: TEK
Phenotype: Corneal stromal edema (HP:0012040)
Associated disease: GLAUCOMA 3, PRIMARY CONGENITAL, E (OMIM:617272)
Gene: TEK
Phenotype: Corneal stromal edema (HP:0012040)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: TEK
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GLAUCOMA 3, PRIMARY INFANTILE, B (OMIM:600975)
Gene: TEK
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL (OMIM:600195)
Gene: TEK
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: GLAUCOMA 3, PRIMARY CONGENITAL, E (OMIM:617272)
Gene: TEK
Phenotype: Bone pain (HP:0002653)
Associated disease: Bean syndrome; BRBN; Blue rubber bleb nevus (ORPHA:1059)
Gene: TEK
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Bean syndrome; BRBN; Blue rubber bleb nevus (ORPHA:1059)
Gene: TEK
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: TEK
Phenotype: Visceral angiomatosis (HP:0100761)
Associated disease: Bean syndrome; BRBN; Blue rubber bleb nevus (ORPHA:1059)
Gene: TEK
Phenotype: Cavernous hemangioma (HP:0001048)
Associated disease: Bean syndrome; BRBN; Blue rubber bleb nevus (ORPHA:1059)
Gene: TEK
Phenotype: Iris atrophy (HP:0001089)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: TEK
Phenotype: Iridodonesis (HP:0100693)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: TEK
Phenotype: Amblyopia (HP:0000646)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: TEK
Phenotype: Blepharospasm (HP:0000643)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: TEK
Phenotype: Photophobia (HP:0000613)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: TEK
Phenotype: Abnormality of coagulation (HP:0001928)
Associated disease: Bean syndrome; BRBN; Blue rubber bleb nevus (ORPHA:1059)
Gene: TEK
Phenotype: Microcytic anemia (HP:0001935)
Associated disease: Bean syndrome; BRBN; Blue rubber bleb nevus (ORPHA:1059)
Gene: TEK
Phenotype: Prolonged bleeding time (HP:0003010)
Associated disease: Bean syndrome; BRBN; Blue rubber bleb nevus (ORPHA:1059)
Gene: TEK
Phenotype: Venous malformation (HP:0012721)
Associated disease: VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL (OMIM:600195)
Gene: TEK
Phenotype: Arteriovenous malformation (HP:0100026)
Associated disease: Bean syndrome; BRBN; Blue rubber bleb nevus (ORPHA:1059)
Gene: TEK
Phenotype: Abnormal Descemet membrane morphology (HP:0011490)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: TEK
Phenotype: Increased cup-to-disc ratio (HP:0012796)
Associated disease: GLAUCOMA 3, PRIMARY CONGENITAL, E (OMIM:617272)
Gene: TEK
Phenotype: Anisometropia (HP:0012803)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: TEK
Phenotype: Primary congenital glaucoma (HP:0008007)
Associated disease: GLAUCOMA 3, PRIMARY INFANTILE, B (OMIM:600975)
Gene: TEK
Phenotype: Skin rash (HP:0000988)
Associated disease: Bean syndrome; BRBN; Blue rubber bleb nevus (ORPHA:1059)
Gene: TEK
Phenotype: Deep anterior chamber (HP:0007765)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: TEK
Phenotype: Gastrointestinal infarctions (HP:0005244)
Associated disease: Bean syndrome; BRBN; Blue rubber bleb nevus (ORPHA:1059)
Gene: TEK
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: TEK
Phenotype: Ocular hypertension (HP:0007906)
Associated disease: GLAUCOMA 3, PRIMARY CONGENITAL, E (OMIM:617272)
Gene: TEK
Phenotype: Ocular hypertension (HP:0007906)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: TEK
Phenotype: Megalocornea (HP:0000485)
Associated disease: GLAUCOMA 3, PRIMARY CONGENITAL, E (OMIM:617272)
Gene: TEK
Phenotype: Megalocornea (HP:0000485)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: TEK
Phenotype: Reduced anterior scleral thickness (HP:0025751)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: TEK
Phenotype: Glaucoma (HP:0000501)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: TEK
Phenotype: Glaucoma (HP:0000501)
Associated disease: GLAUCOMA 3, PRIMARY CONGENITAL, E (OMIM:617272)
Gene: TEK
Phenotype: Buphthalmos (HP:0000557)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: TEK
Phenotype: Visual loss (HP:0000572)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: TEK
Phenotype: Myopia (HP:0000545)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: TERC
Phenotype: Honeycomb lung (HP:0025175)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: TERC
Phenotype: Ground-glass opacification (HP:0025179)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: TERC
Phenotype: Avascular necrosis (HP:0010885)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TERC
Phenotype: Ataxia (HP:0001251)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 (OMIM:127550)
Gene: TERC
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TERC
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TERC
Phenotype: Tracheoesophageal fistula (HP:0002575)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TERC
Phenotype: Urethral stenosis (HP:0008661)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TERC
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TERC
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 2 (OMIM:614743)
Gene: TERC
Phenotype: Reduced forced vital capacity (HP:0032341)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: TERC
Phenotype: Hepatic failure (HP:0001399)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TERC
Phenotype: Cirrhosis (HP:0001394)
Associated disease: PULMONARY FIBROSIS, IDIOPATHIC (OMIM:178500)
Gene: TERC
Phenotype: Cirrhosis (HP:0001394)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 (OMIM:127550)
Gene: TERC
Phenotype: Cirrhosis (HP:0001394)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 2 (OMIM:614743)
Gene: TERC
Phenotype: Cirrhosis (HP:0001394)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TERC
Phenotype: Abnormal testis morphology (HP:0000035)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TERC
Phenotype: Reticular pattern on pulmonary HRCT (HP:0025390)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: TERC
Phenotype: Neoplasm (HP:0002664)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TERC
Phenotype: Specific learning disability (HP:0001328)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 (OMIM:127550)
Gene: TERC
Phenotype: Abnormal morphology of female internal genitalia (HP:0000008)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TERC
Phenotype: Lymphoma (HP:0002665)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TERC
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PULMONARY FIBROSIS, IDIOPATHIC (OMIM:178500)
Gene: TERC
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 2 (OMIM:614743)
Gene: TERC
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 (OMIM:127550)
Gene: TERC
Phenotype: Budd-Chiari syndrome (HP:0002639)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 (OMIM:127550)
Gene: TERC
Phenotype: Scoliosis (HP:0002650)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TERC
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 (OMIM:127550)
Gene: TERC
Phenotype: Hepatic necrosis (HP:0002605)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 (OMIM:127550)
Gene: TERC
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TERC
Phenotype: Reticular hyperpigmentation (HP:0007588)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 (OMIM:127550)
Gene: TERC
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TERC
Phenotype: Oral leukoplakia (HP:0002745)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TERC
Phenotype: Oral leukoplakia (HP:0002745)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 (OMIM:127550)
Gene: TERC
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Idiopathic aplastic anemia; Idiopathic bone marrow failure (ORPHA:88)
Gene: TERC
Phenotype: Malabsorption (HP:0002024)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TERC
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: TERC
Phenotype: Dyspnea (HP:0002094)
Associated disease: PULMONARY FIBROSIS, IDIOPATHIC (OMIM:178500)
Gene: TERC
Phenotype: Dyspnea (HP:0002094)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 (OMIM:127550)
Gene: TERC
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: PULMONARY FIBROSIS, IDIOPATHIC (OMIM:178500)
Gene: TERC
Phenotype: Pulmonic regurgitation (HP:0010444)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: TERC
Phenotype: Esophageal stenosis (HP:0010450)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TERC
Phenotype: Telangiectasia of the skin (HP:0100585)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TERC
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: TERC
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TERC
Phenotype: Adult onset (HP:0003581)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 2 (OMIM:614743)
Gene: TERC
Phenotype: Premature graying of hair (HP:0002216)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 2 (OMIM:614743)
Gene: TERC
Phenotype: Premature graying of hair (HP:0002216)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 (OMIM:127550)
Gene: TERC
Phenotype: Premature graying of hair (HP:0002216)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TERC
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)