TaoMedAI/RareMedData huggingface dataset:
Gene: PTCH1
Phenotype: Frontoethmoidal encephalocele (HP:0007330)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: PTCH1
Phenotype: Inability to walk (HP:0002540)
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: PTCH1
Phenotype: Inability to walk (HP:0002540)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: Inability to walk (HP:0002540)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PTCH1
Phenotype: Inability to walk (HP:0002540)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH1
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: HOLOPROSENCEPHALY 7 (OMIM:610828)
Gene: PTCH1
Phenotype: Semilobar holoprosencephaly (HP:0002507)
Associated disease: HOLOPROSENCEPHALY 7 (OMIM:610828)
Gene: PTCH1
Phenotype: Tall stature (HP:0000098)
Associated disease: Microdeletion 9q22.3; Monosomy 9q22.3 syndrome (ORPHA:77301)
Gene: PTCH1
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: PTCH1
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH1
Phenotype: Flexion contracture (HP:0001371)
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: PTCH1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PTCH1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Microdeletion 9q22.3; Monosomy 9q22.3 syndrome (ORPHA:77301)
Gene: PTCH1
Phenotype: Megalencephaly (HP:0001355)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: PTCH1
Phenotype: Ovarian carcinoma (HP:0025318)
Associated disease: BASAL CELL NEVUS SYNDROME (OMIM:109400)
Gene: PTCH1
Phenotype: Holoprosencephaly (HP:0001360)
Associated disease: HOLOPROSENCEPHALY 7 (OMIM:610828)
Gene: PTCH1
Phenotype: Holoprosencephaly (HP:0001360)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: PTCH1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH1
Phenotype: Neoplasm (HP:0002664)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH1
Phenotype: Specific learning disability (HP:0001328)
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: PTCH1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PTCH1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: PTCH1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
Phenotype: Absent speech (HP:0001344)
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: PTCH1
Phenotype: Absent speech (HP:0001344)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: Absent speech (HP:0001344)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PTCH1
Phenotype: Absent speech (HP:0001344)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1 (OMIM:605462)
Gene: PTCH1
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH1
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: Microdeletion 9q22.3; Monosomy 9q22.3 syndrome (ORPHA:77301)
Gene: PTCH1
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: BASAL CELL NEVUS SYNDROME (OMIM:109400)
Gene: PTCH1
Phenotype: Partial agenesis of the corpus callosum (HP:0001338)
Associated disease: HOLOPROSENCEPHALY 7 (OMIM:610828)
Gene: PTCH1
Phenotype: Nephroblastoma (HP:0002667)
Associated disease: Microdeletion 9q22.3; Monosomy 9q22.3 syndrome (ORPHA:77301)
Gene: PTCH1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HOLOPROSENCEPHALY 7 (OMIM:610828)
Gene: PTCH1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BASAL CELL NEVUS SYNDROME (OMIM:109400)
Gene: PTCH1
Phenotype: Scoliosis (HP:0002650)
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: PTCH1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PTCH1
Phenotype: Scoliosis (HP:0002650)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH1
Phenotype: Scoliosis (HP:0002650)
Associated disease: BASAL CELL NEVUS SYNDROME (OMIM:109400)
Gene: PTCH1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: PTCH1
Phenotype: Bifid uvula (HP:0000193)
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: PTCH1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PTCH1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
Phenotype: Median cleft upper lip (HP:0000161)
Associated disease: HOLOPROSENCEPHALY 7 (OMIM:610828)
Gene: PTCH1
Phenotype: Median cleft upper lip (HP:0000161)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
Phenotype: Median cleft upper lip (HP:0000161)
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: PTCH1
Phenotype: Median cleft upper lip (HP:0000161)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: Median cleft upper lip (HP:0000161)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PTCH1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Microdeletion 9q22.3; Monosomy 9q22.3 syndrome (ORPHA:77301)
Gene: PTCH1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: PTCH1
Phenotype: Cleft palate (HP:0000175)
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: PTCH1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PTCH1
Phenotype: Cleft palate (HP:0000175)
Associated disease: HOLOPROSENCEPHALY 7 (OMIM:610828)
Gene: PTCH1
Phenotype: Cleft palate (HP:0000175)
Associated disease: BASAL CELL NEVUS SYNDROME (OMIM:109400)
Gene: PTCH1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
Phenotype: Solitary median maxillary central incisor (HP:0006315)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: PTCH1
Phenotype: Solitary median maxillary central incisor (HP:0006315)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
Phenotype: Solitary median maxillary central incisor (HP:0006315)
Associated disease: HOLOPROSENCEPHALY 7 (OMIM:610828)
Gene: PTCH1
Phenotype: Solitary median maxillary central incisor (HP:0006315)
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: PTCH1
Phenotype: Solitary median maxillary central incisor (HP:0006315)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: Solitary median maxillary central incisor (HP:0006315)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PTCH1
Phenotype: Bilateral microphthalmos (HP:0007633)
Associated disease: HOLOPROSENCEPHALY 7 (OMIM:610828)
Gene: PTCH1
Phenotype: Floppy infant (HP:0008947)
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: PTCH1
Phenotype: Floppy infant (HP:0008947)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: Floppy infant (HP:0008947)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PTCH1
Phenotype: Floppy infant (HP:0008947)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
Phenotype: Axial hypotonia (HP:0008936)
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: PTCH1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PTCH1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: PTCH1
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
Phenotype: Abnormality of the genitourinary system (HP:0000119)
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: PTCH1
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PTCH1
Phenotype: Abnormal pattern of respiration (HP:0002793)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
Phenotype: Abnormal pattern of respiration (HP:0002793)
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: PTCH1
Phenotype: Abnormal pattern of respiration (HP:0002793)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: Abnormal pattern of respiration (HP:0002793)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PTCH1
Phenotype: Renal agenesis (HP:0000104)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: PTCH1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: BASAL CELL NEVUS SYNDROME (OMIM:109400)
Gene: PTCH1
Phenotype: Gastroesophageal reflux (HP:0002020)
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: PTCH1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PTCH1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
Phenotype: Constipation (HP:0002019)
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: PTCH1
Phenotype: Constipation (HP:0002019)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: Constipation (HP:0002019)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PTCH1
Phenotype: Constipation (HP:0002019)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
Phenotype: Poor suck (HP:0002033)
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: PTCH1
Phenotype: Poor suck (HP:0002033)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: Poor suck (HP:0002033)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PTCH1
Phenotype: Poor suck (HP:0002033)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
Phenotype: Dysphagia (HP:0002015)
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: PTCH1
Phenotype: Dysphagia (HP:0002015)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: Dysphagia (HP:0002015)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PTCH1
Phenotype: Dysphagia (HP:0002015)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: PTCH1
Phenotype: Dysphagia (HP:0002015)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
Phenotype: Vomiting (HP:0002013)
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: PTCH1
Phenotype: Vomiting (HP:0002013)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: Vomiting (HP:0002013)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PTCH1
Phenotype: Vomiting (HP:0002013)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
Phenotype: Abnormal morphology of the olfactory bulb (HP:0040327)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
Phenotype: Abnormal morphology of the olfactory bulb (HP:0040327)
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: PTCH1
Phenotype: Abnormal morphology of the olfactory bulb (HP:0040327)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: Abnormal morphology of the olfactory bulb (HP:0040327)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PTCH1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: HOLOPROSENCEPHALY 7 (OMIM:610828)
Gene: PTCH1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: BASAL CELL NEVUS SYNDROME (OMIM:109400)
Gene: PTCH1
Phenotype: Temperature instability (HP:0005968)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
Phenotype: Temperature instability (HP:0005968)
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: PTCH1
Phenotype: Temperature instability (HP:0005968)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: Temperature instability (HP:0005968)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PTCH1
Phenotype: Bifid nose (HP:0011803)
Associated disease: HOLOPROSENCEPHALY 7 (OMIM:610828)
Gene: PTCH1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: HOLOPROSENCEPHALY 7 (OMIM:610828)
Gene: PTCH1
Phenotype: Asthma (HP:0002099)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: PTCH1
Phenotype: Polydactyly (HP:0010442)
Associated disease: Microdeletion 9q22.3; Monosomy 9q22.3 syndrome (ORPHA:77301)
Gene: PTCH1
Phenotype: Polydactyly (HP:0010442)
Associated disease: BASAL CELL NEVUS SYNDROME (OMIM:109400)
Gene: PTCH1
Phenotype: Central hypothyroidism (HP:0011787)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
Phenotype: Central hypothyroidism (HP:0011787)
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: PTCH1
Phenotype: Central hypothyroidism (HP:0011787)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: Central hypothyroidism (HP:0011787)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PTCH1
Phenotype: Abnormal vertebral morphology (HP:0003468)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: PTCH1
Phenotype: Abnormal vertebral morphology (HP:0003468)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Microdeletion 9q22.3; Monosomy 9q22.3 syndrome (ORPHA:77301)
Gene: PTCH1
Phenotype: Hamartomatous stomach polyps (HP:0004795)
Associated disease: BASAL CELL NEVUS SYNDROME (OMIM:109400)
Gene: PTCH1
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: PTCH1
Phenotype: Skin tags (HP:0010609)
Associated disease: BASAL CELL NEVUS SYNDROME (OMIM:109400)
Gene: PTCH1
Phenotype: Odontogenic keratocysts of the jaw (HP:0010603)
Associated disease: Microdeletion 9q22.3; Monosomy 9q22.3 syndrome (ORPHA:77301)
Gene: PTCH1
Phenotype: Odontogenic keratocysts of the jaw (HP:0010603)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH1
Phenotype: Odontogenic keratocysts of the jaw (HP:0010603)
Associated disease: BASAL CELL NEVUS SYNDROME (OMIM:109400)
Gene: PTCH1
Phenotype: Abnormality of the autonomic nervous system (HP:0002270)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
Phenotype: Abnormality of the autonomic nervous system (HP:0002270)
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: PTCH1
Phenotype: Abnormality of the autonomic nervous system (HP:0002270)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: Abnormality of the autonomic nervous system (HP:0002270)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PTCH1
Phenotype: Congenital onset (HP:0003577)
Associated disease: HOLOPROSENCEPHALY 7 (OMIM:610828)
Gene: PTCH1
Phenotype: Cerebral visual impairment (HP:0100704)
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: PTCH1
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PTCH1
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
Phenotype: Impulsivity (HP:0100710)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: PTCH1
Phenotype: Duodenal atresia (HP:0002247)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: PTCH1
Phenotype: Cardiac rhabdomyoma (HP:0009729)
Associated disease: BASAL CELL NEVUS SYNDROME (OMIM:109400)
Gene: PTCH1
Phenotype: Rhabdomyoma (HP:0009730)
Associated disease: BASAL CELL NEVUS SYNDROME (OMIM:109400)
Gene: PTCH1
Phenotype: Fusion of the left and right thalami (HP:0010664)
Associated disease: HOLOPROSENCEPHALY 7 (OMIM:610828)
Gene: PTCH1
Phenotype: Aplasia of the falx cerebri (HP:0010654)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
Phenotype: Aplasia of the falx cerebri (HP:0010654)
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: PTCH1
Phenotype: Aplasia of the falx cerebri (HP:0010654)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: Aplasia of the falx cerebri (HP:0010654)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)