TaoMedAI/RareMedData huggingface dataset:
Gene: PTCH1
Phenotype: Precocious puberty (HP:0000826)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: PTCH1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: PTCH1
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
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: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PTCH1
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
Phenotype: Abnormality of limbs (HP:0040064)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
Phenotype: Abnormality of limbs (HP:0040064)
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 limbs (HP:0040064)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: Abnormality of limbs (HP:0040064)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PTCH1
Phenotype: Melanocytic nevus (HP:0000995)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH1
Phenotype: Neural tube defect (HP:0045005)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
Phenotype: Neural tube defect (HP:0045005)
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: Neural tube defect (HP:0045005)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: Neural tube defect (HP:0045005)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PTCH1
Phenotype: Supernumerary ribs (HP:0005815)
Associated disease: BASAL CELL NEVUS SYNDROME (OMIM:109400)
Gene: PTCH1
Phenotype: Abnormal hypothalamus physiology (HP:0012285)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
Phenotype: Abnormal hypothalamus physiology (HP:0012285)
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 hypothalamus physiology (HP:0012285)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: Abnormal hypothalamus physiology (HP:0012285)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PTCH1
Phenotype: Epicanthus (HP:0000286)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH1
Phenotype: Epicanthus (HP:0000286)
Associated disease: Microdeletion 9q22.3; Monosomy 9q22.3 syndrome (ORPHA:77301)
Gene: PTCH1
Phenotype: Broad face (HP:0000283)
Associated disease: HOLOPROSENCEPHALY 7 (OMIM:610828)
Gene: PTCH1
Phenotype: Broad face (HP:0000283)
Associated disease: BASAL CELL NEVUS SYNDROME (OMIM:109400)
Gene: PTCH1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: BASAL CELL NEVUS SYNDROME (OMIM:109400)
Gene: PTCH1
Phenotype: Macrocephaly (HP:0000256)
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: Macrocephaly (HP:0000256)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PTCH1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: HOLOPROSENCEPHALY 7 (OMIM:610828)
Gene: PTCH1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: BASAL CELL NEVUS SYNDROME (OMIM:109400)
Gene: PTCH1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Microdeletion 9q22.3; Monosomy 9q22.3 syndrome (ORPHA:77301)
Gene: PTCH1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
Phenotype: Cranial asymmetry (HP:0000267)
Associated disease: HOLOPROSENCEPHALY 7 (OMIM:610828)
Gene: PTCH1
Phenotype: Hypoplastic nasal septum (HP:0005104)
Associated disease: HOLOPROSENCEPHALY 7 (OMIM:610828)
Gene: PTCH1
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: PTCH1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PTCH1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
Phenotype: Kyphosis (HP:0002808)
Associated disease: Microdeletion 9q22.3; Monosomy 9q22.3 syndrome (ORPHA:77301)
Gene: PTCH1
Phenotype: Parietal bossing (HP:0000242)
Associated disease: HOLOPROSENCEPHALY 7 (OMIM:610828)
Gene: PTCH1
Phenotype: Parietal bossing (HP:0000242)
Associated disease: BASAL CELL NEVUS SYNDROME (OMIM:109400)
Gene: PTCH1
Phenotype: Trigonocephaly (HP:0000243)
Associated disease: Microdeletion 9q22.3; Monosomy 9q22.3 syndrome (ORPHA:77301)
Gene: PTCH1
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: PTCH1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PTCH1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: HOLOPROSENCEPHALY 7 (OMIM:610828)
Gene: PTCH1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: BASAL CELL NEVUS SYNDROME (OMIM:109400)
Gene: PTCH1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Microdeletion 9q22.3; Monosomy 9q22.3 syndrome (ORPHA:77301)
Gene: PTCH1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
Phenotype: Microcephaly (HP:0000252)
Associated disease: HOLOPROSENCEPHALY 7 (OMIM:610828)
Gene: PTCH1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: PTCH1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: PTCH1
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: PTCH1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PTCH1
Phenotype: Brachycephaly (HP:0000248)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH1
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: PTCH1
Phenotype: High palate (HP:0000218)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: High palate (HP:0000218)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PTCH1
Phenotype: High palate (HP:0000218)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
Phenotype: Anteriorly placed anus (HP:0001545)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: PTCH1
Phenotype: Medulloblastoma (HP:0002885)
Associated disease: Microdeletion 9q22.3; Monosomy 9q22.3 syndrome (ORPHA:77301)
Gene: PTCH1
Phenotype: Medulloblastoma (HP:0002885)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH1
Phenotype: Medulloblastoma (HP:0002885)
Associated disease: BASAL CELL NEVUS SYNDROME (OMIM:109400)
Gene: PTCH1
Phenotype: Meningioma (HP:0002858)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH1
Phenotype: Rhabdomyosarcoma (HP:0002859)
Associated disease: Microdeletion 9q22.3; Monosomy 9q22.3 syndrome (ORPHA:77301)
Gene: PTCH1
Phenotype: Central apnea (HP:0002871)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
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: PTCH1
Phenotype: Central apnea (HP:0002871)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: Central apnea (HP:0002871)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PTCH1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Microdeletion 9q22.3; Monosomy 9q22.3 syndrome (ORPHA:77301)
Gene: PTCH1
Phenotype: Omphalocele (HP:0001539)
Associated disease: HOLOPROSENCEPHALY 7 (OMIM:610828)
Gene: PTCH1
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: PTCH1
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH1
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: Microdeletion 9q22.3; Monosomy 9q22.3 syndrome (ORPHA:77301)
Gene: PTCH1
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: BASAL CELL NEVUS SYNDROME (OMIM:109400)
Gene: PTCH1
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: PTCH1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PTCH1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
Phenotype: Large for gestational age (HP:0001520)
Associated disease: Microdeletion 9q22.3; Monosomy 9q22.3 syndrome (ORPHA:77301)
Gene: PTCH1
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: PTCH1
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: PTCH1
Phenotype: Growth delay (HP:0001510)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: Growth delay (HP:0001510)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PTCH1
Phenotype: Growth delay (HP:0001510)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
Phenotype: Flat face (HP:0012368)
Associated disease: HOLOPROSENCEPHALY 7 (OMIM:610828)
Gene: PTCH1
Phenotype: Chronic lung disease (HP:0006528)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
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: PTCH1
Phenotype: Chronic lung disease (HP:0006528)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: Chronic lung disease (HP:0006528)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PTCH1
Phenotype: Hemivertebrae (HP:0002937)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH1
Phenotype: Hemivertebrae (HP:0002937)
Associated disease: BASAL CELL NEVUS SYNDROME (OMIM:109400)
Gene: PTCH1
Phenotype: Vertebral fusion (HP:0002948)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH1
Phenotype: Vertebral fusion (HP:0002948)
Associated disease: BASAL CELL NEVUS SYNDROME (OMIM:109400)
Gene: PTCH1
Phenotype: Low-set ears (HP:0000369)
Associated disease: Microdeletion 9q22.3; Monosomy 9q22.3 syndrome (ORPHA:77301)
Gene: PTCH1
Phenotype: Long philtrum (HP:0000343)
Associated disease: Microdeletion 9q22.3; Monosomy 9q22.3 syndrome (ORPHA:77301)
Gene: PTCH1
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: PTCH1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: HOLOPROSENCEPHALY 7 (OMIM:610828)
Gene: PTCH1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: BASAL CELL NEVUS SYNDROME (OMIM:109400)
Gene: PTCH1
Phenotype: Short philtrum (HP:0000322)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: PTCH1
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: PTCH1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PTCH1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
Phenotype: Premature birth (HP:0001622)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: PTCH1
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: PTCH1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: BASAL CELL NEVUS SYNDROME (OMIM:109400)
Gene: PTCH1
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: PTCH1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PTCH1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
Phenotype: Macrotia (HP:0000400)
Associated disease: HOLOPROSENCEPHALY 7 (OMIM:610828)
Gene: PTCH1
Phenotype: Absent nasal septal cartilage (HP:0005273)
Associated disease: HOLOPROSENCEPHALY 7 (OMIM:610828)
Gene: PTCH1
Phenotype: Strabismus (HP:0000486)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH1
Phenotype: Strabismus (HP:0000486)
Associated disease: BASAL CELL NEVUS SYNDROME (OMIM:109400)
Gene: PTCH1
Phenotype: Strabismus (HP:0000486)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: PTCH1
Phenotype: Strabismus (HP:0000486)
Associated disease: Microdeletion 9q22.3; Monosomy 9q22.3 syndrome (ORPHA:77301)
Gene: PTCH1
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: PTCH1
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PTCH1
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Microdeletion 9q22.3; Monosomy 9q22.3 syndrome (ORPHA:77301)
Gene: PTCH1
Phenotype: Retinopathy (HP:0000488)
Associated disease: Microdeletion 9q22.3; Monosomy 9q22.3 syndrome (ORPHA:77301)
Gene: PTCH1
Phenotype: Abnormality of the neck (HP:0000464)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: PTCH1
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: PTCH1
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PTCH1
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
Phenotype: Short neck (HP:0000470)
Associated disease: Microdeletion 9q22.3; Monosomy 9q22.3 syndrome (ORPHA:77301)
Gene: PTCH1
Phenotype: Depressed nasal tip (HP:0000437)
Associated disease: HOLOPROSENCEPHALY 7 (OMIM:610828)
Gene: PTCH1
Phenotype: Choanal atresia (HP:0000453)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: PTCH1
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: PTCH1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: HOLOPROSENCEPHALY 7 (OMIM:610828)
Gene: PTCH1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: BASAL CELL NEVUS SYNDROME (OMIM:109400)
Gene: PTCH1
Phenotype: Midline defect of the nose (HP:0004122)
Associated disease: HOLOPROSENCEPHALY 7 (OMIM:610828)
Gene: PTCH1
Phenotype: Bridged sella turcica (HP:0005449)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH1
Phenotype: Bridged sella turcica (HP:0005449)
Associated disease: BASAL CELL NEVUS SYNDROME (OMIM:109400)
Gene: PTCH1
Phenotype: Flat occiput (HP:0005469)
Associated disease: HOLOPROSENCEPHALY 7 (OMIM:610828)
Gene: PTCH1
Phenotype: Calcification of falx cerebri (HP:0005462)
Associated disease: Microdeletion 9q22.3; Monosomy 9q22.3 syndrome (ORPHA:77301)
Gene: PTCH1
Phenotype: Calcification of falx cerebri (HP:0005462)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH1
Phenotype: Calcification of falx cerebri (HP:0005462)
Associated disease: BASAL CELL NEVUS SYNDROME (OMIM:109400)
Gene: PTCH1
Phenotype: Cataract (HP:0000518)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH1
Phenotype: Cataract (HP:0000518)
Associated disease: BASAL CELL NEVUS SYNDROME (OMIM:109400)
Gene: PTCH1
Phenotype: Cataract (HP:0000518)
Associated disease: Microdeletion 9q22.3; Monosomy 9q22.3 syndrome (ORPHA:77301)
Gene: PTCH1
Phenotype: Telecanthus (HP:0000506)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH1
Phenotype: Glaucoma (HP:0000501)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH1
Phenotype: Glaucoma (HP:0000501)
Associated disease: BASAL CELL NEVUS SYNDROME (OMIM:109400)
Gene: PTCH1
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: HOLOPROSENCEPHALY 7 (OMIM:610828)
Gene: PTCH1
Phenotype: Shallow orbits (HP:0000586)
Associated disease: HOLOPROSENCEPHALY 7 (OMIM:610828)
Gene: PTCH1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: HOLOPROSENCEPHALY 7 (OMIM:610828)
Gene: PTCH1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: BASAL CELL NEVUS SYNDROME (OMIM:109400)