TaoMedAI/RareMedData huggingface dataset:
Gene: TGIF1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: TGIF1
Phenotype: Hip dislocation (HP:0002827)
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: TGIF1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: TGIF1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: TGIF1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: TGIF1
Phenotype: Hydrocephalus (HP:0000238)
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: TGIF1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: TGIF1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: TGIF1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: TGIF1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: TGIF1
Phenotype: Microcephaly (HP:0000252)
Associated disease: HOLOPROSENCEPHALY 4 (OMIM:142946)
Gene: TGIF1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: TGIF1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: TGIF1
Phenotype: Microcephaly (HP:0000252)
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: TGIF1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: TGIF1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: TGIF1
Phenotype: High palate (HP:0000218)
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: TGIF1
Phenotype: High palate (HP:0000218)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: TGIF1
Phenotype: High palate (HP:0000218)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: TGIF1
Phenotype: High palate (HP:0000218)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: TGIF1
Phenotype: Anteriorly placed anus (HP:0001545)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: TGIF1
Phenotype: Central apnea (HP:0002871)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: TGIF1
Phenotype: Central apnea (HP:0002871)
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: TGIF1
Phenotype: Central apnea (HP:0002871)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: TGIF1
Phenotype: Central apnea (HP:0002871)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: TGIF1
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: TGIF1
Phenotype: Failure to thrive (HP:0001508)
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: TGIF1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: TGIF1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: TGIF1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: TGIF1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: TGIF1
Phenotype: Growth delay (HP:0001510)
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: TGIF1
Phenotype: Growth delay (HP:0001510)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: TGIF1
Phenotype: Growth delay (HP:0001510)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: TGIF1
Phenotype: Growth delay (HP:0001510)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: TGIF1
Phenotype: Chronic lung disease (HP:0006528)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: TGIF1
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: TGIF1
Phenotype: Chronic lung disease (HP:0006528)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: TGIF1
Phenotype: Chronic lung disease (HP:0006528)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: TGIF1
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: TGIF1
Phenotype: Short philtrum (HP:0000322)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: TGIF1
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: TGIF1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: TGIF1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: TGIF1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: TGIF1
Phenotype: Premature birth (HP:0001622)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: TGIF1
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: TGIF1
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: TGIF1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: TGIF1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: TGIF1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: TGIF1
Phenotype: Absent nasal septal cartilage (HP:0005273)
Associated disease: HOLOPROSENCEPHALY 4 (OMIM:142946)
Gene: TGIF1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: HOLOPROSENCEPHALY 4 (OMIM:142946)
Gene: TGIF1
Phenotype: Strabismus (HP:0000486)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: TGIF1
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: TGIF1
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: TGIF1
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: TGIF1
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: TGIF1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: TGIF1
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: TGIF1
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: TGIF1
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: TGIF1
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: TGIF1
Phenotype: Depressed nasal tip (HP:0000437)
Associated disease: HOLOPROSENCEPHALY 4 (OMIM:142946)
Gene: TGIF1
Phenotype: Choanal atresia (HP:0000453)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: TGIF1
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: TGIF1
Phenotype: Ptosis (HP:0000508)
Associated disease: HOLOPROSENCEPHALY 4 (OMIM:142946)
Gene: TGM1
Phenotype: Sepsis (HP:0100806)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: TGM1
Phenotype: Congenital ichthyosiform erythroderma (HP:0007431)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1 (OMIM:242300)
Gene: TGM1
Phenotype: Aplasia/Hypoplasia of the eyebrow (HP:0100840)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: TGM1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: TGM1
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Self-improving collodion baby; Self-healing collodion baby; Self-improving congenital ichthyosis; SICI; SHCB (ORPHA:281122)
Gene: TGM1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1 (OMIM:242300)
Gene: TGM1
Phenotype: Desquamation of skin soon after birth (HP:0007549)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1 (OMIM:242300)
Gene: TGM1
Phenotype: Localized epidermolytic hyperkeratosis (HP:0007559)
Associated disease: Acral SHCB; Acral self-healing collodion baby (ORPHA:281127)
Gene: TGM1
Phenotype: Edema of the dorsum of hands (HP:0007514)
Associated disease: Acral SHCB; Acral self-healing collodion baby (ORPHA:281127)
Gene: TGM1
Phenotype: Edema of the dorsum of feet (HP:0012098)
Associated disease: Acral SHCB; Acral self-healing collodion baby (ORPHA:281127)
Gene: TGM1
Phenotype: Congenital nonbullous ichthyosiform erythroderma (HP:0007479)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1 (OMIM:242300)
Gene: TGM1
Phenotype: Congenital nonbullous ichthyosiform erythroderma (HP:0007479)
Associated disease: Bathing suit ichthyosis; BSI (ORPHA:100976)
Gene: TGM1
Phenotype: Autoamputation of digits (HP:0007460)
Associated disease: Bathing suit ichthyosis; BSI (ORPHA:100976)
Gene: TGM1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1 (OMIM:242300)
Gene: TGM1
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: TGM1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: TGM1
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1 (OMIM:242300)
Gene: TGM1
Phenotype: Congenital onset (HP:0003577)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1 (OMIM:242300)
Gene: TGM1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: TGM1
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1 (OMIM:242300)
Gene: TGM1
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: Bathing suit ichthyosis; BSI (ORPHA:100976)
Gene: TGM1
Phenotype: Gangrene (HP:0100758)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: TGM1
Phenotype: Parakeratosis (HP:0001036)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1 (OMIM:242300)
Gene: TGM1
Phenotype: Parakeratosis (HP:0001036)
Associated disease: Bathing suit ichthyosis; BSI (ORPHA:100976)
Gene: TGM1
Phenotype: Erythroderma (HP:0001019)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1 (OMIM:242300)
Gene: TGM1
Phenotype: Erythroderma (HP:0001019)
Associated disease: Bathing suit ichthyosis; BSI (ORPHA:100976)
Gene: TGM1
Phenotype: Erythroderma (HP:0001019)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: TGM1
Phenotype: Erythroderma (HP:0001019)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: TGM1
Phenotype: Corneal erosion (HP:0200020)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: TGM1
Phenotype: Epidermal acanthosis (HP:0025092)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1 (OMIM:242300)
Gene: TGM1
Phenotype: Epidermal acanthosis (HP:0025092)
Associated disease: Bathing suit ichthyosis; BSI (ORPHA:100976)
Gene: TGM1
Phenotype: Impaired temperature sensation (HP:0010829)
Associated disease: Bathing suit ichthyosis; BSI (ORPHA:100976)
Gene: TGM1
Phenotype: Lack of skin elasticity (HP:0100679)
Associated disease: Acral SHCB; Acral self-healing collodion baby (ORPHA:281127)
Gene: TGM1
Phenotype: Lack of skin elasticity (HP:0100679)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: TGM1
Phenotype: Thickened skin (HP:0001072)
Associated disease: Bathing suit ichthyosis; BSI (ORPHA:100976)
Gene: TGM1
Phenotype: Erythema (HP:0010783)
Associated disease: Acral SHCB; Acral self-healing collodion baby (ORPHA:281127)
Gene: TGM1
Phenotype: Dehydration (HP:0001944)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: TGM1
Phenotype: Ectropion (HP:0000656)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1 (OMIM:242300)
Gene: TGM1
Phenotype: Ectropion (HP:0000656)
Associated disease: Bathing suit ichthyosis; BSI (ORPHA:100976)
Gene: TGM1
Phenotype: Ectropion (HP:0000656)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: TGM1
Phenotype: Ectropion (HP:0000656)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: TGM1
Phenotype: Short stature (HP:0004322)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: TGM1
Phenotype: Short stature (HP:0004322)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: TGM1
Phenotype: Palmoplantar hyperkeratosis (HP:0000972)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1 (OMIM:242300)
Gene: TGM1
Phenotype: Palmoplantar hyperkeratosis (HP:0000972)
Associated disease: Bathing suit ichthyosis; BSI (ORPHA:100976)
Gene: TGM1
Phenotype: Pruritus (HP:0000989)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: TGM1
Phenotype: Pruritus (HP:0000989)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: TGM1
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: TGM1
Phenotype: Dry skin (HP:0000958)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: TGM1
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: Bathing suit ichthyosis; BSI (ORPHA:100976)
Gene: TGM1
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: TGM1
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: TGM1
Phenotype: Sparse hair (HP:0008070)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1 (OMIM:242300)
Gene: TGM1
Phenotype: Sparse hair (HP:0008070)
Associated disease: Bathing suit ichthyosis; BSI (ORPHA:100976)
Gene: TGM1
Phenotype: Sparse hair (HP:0008070)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: TGM1
Phenotype: Ichthyosis (HP:0008064)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1 (OMIM:242300)
Gene: TGM1
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Self-improving collodion baby; Self-healing collodion baby; Self-improving congenital ichthyosis; SICI; SHCB (ORPHA:281122)
Gene: TGM1
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Bathing suit ichthyosis; BSI (ORPHA:100976)
Gene: TGM1
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: TGM1
Phenotype: Ichthyosis (HP:0008064)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: TGM1
Phenotype: Scaling skin (HP:0040189)
Associated disease: Bathing suit ichthyosis; BSI (ORPHA:100976)
Gene: TGM1
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: TGM1
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: TGM1
Phenotype: Alopecia (HP:0001596)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1 (OMIM:242300)
Gene: TGM1
Phenotype: Alopecia (HP:0001596)
Associated disease: Bathing suit ichthyosis; BSI (ORPHA:100976)
Gene: TGM1
Phenotype: Alopecia (HP:0001596)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: TGM1
Phenotype: Multiple joint contractures (HP:0002828)
Associated disease: Bathing suit ichthyosis; BSI (ORPHA:100976)
Gene: TGM1
Phenotype: Palmoplantar scaling skin (HP:0025524)
Associated disease: Acral SHCB; Acral self-healing collodion baby (ORPHA:281127)
Gene: TGM1
Phenotype: Palmoplantar scaling skin (HP:0025524)
Associated disease: Bathing suit ichthyosis; BSI (ORPHA:100976)
Gene: TGM1
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1 (OMIM:242300)
Gene: TGM1
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: TGM1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: TGM1
Phenotype: Abnormal helix morphology (HP:0011039)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: TGM1
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: TGM1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: TGM1
Phenotype: Eclabion (HP:0012472)
Associated disease: Bathing suit ichthyosis; BSI (ORPHA:100976)
Gene: TGM1
Phenotype: Keratitis (HP:0000491)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: TGM3
Phenotype: Juvenile cataract (HP:0001118)
Associated disease: UNCOMBABLE HAIR SYNDROME 2 (OMIM:617251)
Gene: TGM3
Phenotype: Trichodysplasia (HP:0002552)
Associated disease: Uncombable hair syndrome; Pili trianguli et canaliculi (ORPHA:1410)
Gene: TGM3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: UNCOMBABLE HAIR SYNDROME 2 (OMIM:617251)
Gene: TGM3
Phenotype: Infantile onset (HP:0003593)
Associated disease: UNCOMBABLE HAIR SYNDROME 2 (OMIM:617251)
Gene: TGM3
Phenotype: Woolly hair (HP:0002224)
Associated disease: Uncombable hair syndrome; Pili trianguli et canaliculi (ORPHA:1410)
Gene: TGM3
Phenotype: Pili canaliculi (HP:0002235)
Associated disease: UNCOMBABLE HAIR SYNDROME 2 (OMIM:617251)
Gene: TGM3
Phenotype: Patchy alopecia (HP:0002232)
Associated disease: Uncombable hair syndrome; Pili trianguli et canaliculi (ORPHA:1410)
Gene: TGM3
Phenotype: Coarse hair (HP:0002208)
Associated disease: Uncombable hair syndrome; Pili trianguli et canaliculi (ORPHA:1410)
Gene: TGM3
Phenotype: White hair (HP:0011364)
Associated disease: Uncombable hair syndrome; Pili trianguli et canaliculi (ORPHA:1410)
Gene: TGM3
Phenotype: Abnormal hair morphology (HP:0001595)
Associated disease: Uncombable hair syndrome; Pili trianguli et canaliculi (ORPHA:1410)
Gene: TGM3
Phenotype: Uncombable hair (HP:0030056)
Associated disease: UNCOMBABLE HAIR SYNDROME 2 (OMIM:617251)
Gene: TH
Phenotype: Decreased CSF homovanillic acid concentration (HP:0003785)
Associated disease: SEGAWA SYNDROME, AUTOSOMAL RECESSIVE (OMIM:605407)
Gene: TH
Phenotype: Decreased CSF homovanillic acid concentration (HP:0003785)
Associated disease: DYT5b; Tyrosine hydroxylase deficiency; Autosomal recessive dopa-responsive dystonia; Tyrosine hydroxylase-deficient dopa-responsive dystonia; Autosomal recessive Segawa syndrome (ORPHA:101150)
Gene: TH
Phenotype: Excessive salivation (HP:0003781)
Associated disease: DYT5b; Tyrosine hydroxylase deficiency; Autosomal recessive dopa-responsive dystonia; Tyrosine hydroxylase-deficient dopa-responsive dystonia; Autosomal recessive Segawa syndrome (ORPHA:101150)
Gene: TH
Phenotype: Limb dystonia (HP:0002451)
Associated disease: DYT5b; Tyrosine hydroxylase deficiency; Autosomal recessive dopa-responsive dystonia; Tyrosine hydroxylase-deficient dopa-responsive dystonia; Autosomal recessive Segawa syndrome (ORPHA:101150)
Gene: TH
Phenotype: Limb dystonia (HP:0002451)
Associated disease: SEGAWA SYNDROME, AUTOSOMAL RECESSIVE (OMIM:605407)
Gene: TH
Phenotype: Progressive encephalopathy (HP:0002448)
Associated disease: DYT5b; Tyrosine hydroxylase deficiency; Autosomal recessive dopa-responsive dystonia; Tyrosine hydroxylase-deficient dopa-responsive dystonia; Autosomal recessive Segawa syndrome (ORPHA:101150)
Gene: TH
Phenotype: Generalized dystonia (HP:0007325)
Associated disease: DYT5b; Tyrosine hydroxylase deficiency; Autosomal recessive dopa-responsive dystonia; Tyrosine hydroxylase-deficient dopa-responsive dystonia; Autosomal recessive Segawa syndrome (ORPHA:101150)