TaoMedAI/RareMedData huggingface dataset:
Gene: PTCH1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
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: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PTCH1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
Phenotype: Flat nasal alae (HP:0010649)
Associated disease: HOLOPROSENCEPHALY 7 (OMIM:610828)
Gene: PTCH1
Phenotype: Midnasal stenosis (HP:0010644)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: PTCH1
Phenotype: Hypoplasia of the premaxilla (HP:0010650)
Associated disease: HOLOPROSENCEPHALY 7 (OMIM:610828)
Gene: PTCH1
Phenotype: Feeding difficulties (HP:0011968)
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: Feeding difficulties (HP:0011968)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PTCH1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Microdeletion 9q22.3; Monosomy 9q22.3 syndrome (ORPHA:77301)
Gene: PTCH1
Phenotype: Short distal phalanx of the thumb (HP:0009650)
Associated disease: BASAL CELL NEVUS SYNDROME (OMIM:109400)
Gene: PTCH1
Phenotype: Aspiration pneumonia (HP:0011951)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
Phenotype: Aspiration pneumonia (HP:0011951)
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: Aspiration pneumonia (HP:0011951)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: Aspiration pneumonia (HP:0011951)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PTCH1
Phenotype: Ovarian fibroma (HP:0010618)
Associated disease: Microdeletion 9q22.3; Monosomy 9q22.3 syndrome (ORPHA:77301)
Gene: PTCH1
Phenotype: Ovarian fibroma (HP:0010618)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH1
Phenotype: Ovarian fibroma (HP:0010618)
Associated disease: BASAL CELL NEVUS SYNDROME (OMIM:109400)
Gene: PTCH1
Phenotype: Cardiac fibroma (HP:0010617)
Associated disease: Microdeletion 9q22.3; Monosomy 9q22.3 syndrome (ORPHA:77301)
Gene: PTCH1
Phenotype: Cardiac fibroma (HP:0010617)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH1
Phenotype: Cardiac fibroma (HP:0010617)
Associated disease: BASAL CELL NEVUS SYNDROME (OMIM:109400)
Gene: PTCH1
Phenotype: Palmar pits (HP:0010610)
Associated disease: Microdeletion 9q22.3; Monosomy 9q22.3 syndrome (ORPHA:77301)
Gene: PTCH1
Phenotype: Palmar pits (HP:0010610)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH1
Phenotype: Palmar pits (HP:0010610)
Associated disease: BASAL CELL NEVUS SYNDROME (OMIM:109400)
Gene: PTCH1
Phenotype: Plantar pits (HP:0010612)
Associated disease: Microdeletion 9q22.3; Monosomy 9q22.3 syndrome (ORPHA:77301)
Gene: PTCH1
Phenotype: Plantar pits (HP:0010612)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH1
Phenotype: Plantar pits (HP:0010612)
Associated disease: BASAL CELL NEVUS SYNDROME (OMIM:109400)
Gene: PTCH1
Phenotype: Milia (HP:0001056)
Associated disease: BASAL CELL NEVUS SYNDROME (OMIM:109400)
Gene: PTCH1
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: HOLOPROSENCEPHALY 7 (OMIM:610828)
Gene: PTCH1
Phenotype: Abnormal brainstem morphology (HP:0002363)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
Phenotype: Abnormal brainstem morphology (HP:0002363)
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 brainstem morphology (HP:0002363)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: Abnormal brainstem morphology (HP:0002363)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PTCH1
Phenotype: Hemangioma (HP:0001028)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: PTCH1
Phenotype: Down-sloping shoulders (HP:0200021)
Associated disease: BASAL CELL NEVUS SYNDROME (OMIM:109400)
Gene: PTCH1
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: PTCH1
Phenotype: Maternal diabetes (HP:0009800)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: PTCH1
Phenotype: Vertebral wedging (HP:0008422)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH1
Phenotype: Vertebral wedging (HP:0008422)
Associated disease: BASAL CELL NEVUS SYNDROME (OMIM:109400)
Gene: PTCH1
Phenotype: Chiari malformation (HP:0002308)
Associated disease: Microdeletion 9q22.3; Monosomy 9q22.3 syndrome (ORPHA:77301)
Gene: PTCH1
Phenotype: Lobar holoprosencephaly (HP:0006870)
Associated disease: HOLOPROSENCEPHALY 7 (OMIM:610828)
Gene: PTCH1
Phenotype: Abnormal heart rate variability (HP:0031860)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
Phenotype: Abnormal heart rate variability (HP:0031860)
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 rate variability (HP:0031860)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: Abnormal heart rate variability (HP:0031860)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PTCH1
Phenotype: Median cleft palate (HP:0009099)
Associated disease: HOLOPROSENCEPHALY 7 (OMIM:610828)
Gene: PTCH1
Phenotype: Irregular ossification of hand bones (HP:0004280)
Associated disease: BASAL CELL NEVUS SYNDROME (OMIM:109400)
Gene: PTCH1
Phenotype: Iris coloboma (HP:0000612)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: PTCH1
Phenotype: Iris coloboma (HP:0000612)
Associated disease: BASAL CELL NEVUS SYNDROME (OMIM:109400)
Gene: PTCH1
Phenotype: Iris coloboma (HP:0000612)
Associated disease: HOLOPROSENCEPHALY 7 (OMIM:610828)
Gene: PTCH1
Phenotype: Iris coloboma (HP:0000612)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH1
Phenotype: Hypotelorism (HP:0000601)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: PTCH1
Phenotype: Hypotelorism (HP:0000601)
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: Hypotelorism (HP:0000601)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: Hypotelorism (HP:0000601)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PTCH1
Phenotype: Hypotelorism (HP:0000601)
Associated disease: HOLOPROSENCEPHALY 7 (OMIM:610828)
Gene: PTCH1
Phenotype: Hypotelorism (HP:0000601)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
Phenotype: Short 4th metacarpal (HP:0010044)
Associated disease: BASAL CELL NEVUS SYNDROME (OMIM:109400)
Gene: PTCH1
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Microdeletion 9q22.3; Monosomy 9q22.3 syndrome (ORPHA:77301)
Gene: PTCH1
Phenotype: Metopic synostosis (HP:0011330)
Associated disease: Microdeletion 9q22.3; Monosomy 9q22.3 syndrome (ORPHA:77301)
Gene: PTCH1
Phenotype: Perisylvian polymicrogyria (HP:0012650)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: PTCH1
Phenotype: Carious teeth (HP:0000670)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH1
Phenotype: Synophrys (HP:0000664)
Associated disease: HOLOPROSENCEPHALY 7 (OMIM:610828)
Gene: PTCH1
Phenotype: Alobar holoprosencephaly (HP:0006988)
Associated disease: HOLOPROSENCEPHALY 7 (OMIM:610828)
Gene: PTCH1
Phenotype: Short stature (HP:0004322)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
Phenotype: Short stature (HP:0004322)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: PTCH1
Phenotype: Short stature (HP:0004322)
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: Short stature (HP:0004322)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: Short stature (HP:0004322)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PTCH1
Phenotype: Sleep-wake cycle disturbance (HP:0006979)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
Phenotype: Sleep-wake cycle disturbance (HP:0006979)
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: Sleep-wake cycle disturbance (HP:0006979)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: Sleep-wake cycle disturbance (HP:0006979)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PTCH1
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: Microdeletion 9q22.3; Monosomy 9q22.3 syndrome (ORPHA:77301)
Gene: PTCH1
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: PTCH1
Phenotype: Rhombencephalosynapsis (HP:0031913)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: PTCH1
Phenotype: Hyperactivity (HP:0000752)
Associated disease: Microdeletion 9q22.3; Monosomy 9q22.3 syndrome (ORPHA:77301)
Gene: PTCH1
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: PTCH1
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH1
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: Microdeletion 9q22.3; Monosomy 9q22.3 syndrome (ORPHA:77301)
Gene: PTCH1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Microdeletion 9q22.3; Monosomy 9q22.3 syndrome (ORPHA:77301)
Gene: PTCH1
Phenotype: Abnormal sternum morphology (HP:0000766)
Associated disease: BASAL CELL NEVUS SYNDROME (OMIM:109400)
Gene: PTCH1
Phenotype: Irritability (HP:0000737)
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: Irritability (HP:0000737)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: Irritability (HP:0000737)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PTCH1
Phenotype: Irritability (HP:0000737)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
Phenotype: Anxiety (HP:0000739)
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: Anxiety (HP:0000739)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: Anxiety (HP:0000739)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PTCH1
Phenotype: Anxiety (HP:0000739)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
Phenotype: Short attention span (HP:0000736)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: PTCH1
Phenotype: Abnormal gastrointestinal tract morphology (HP:0012718)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
Phenotype: Abnormal gastrointestinal tract morphology (HP:0012718)
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 gastrointestinal tract morphology (HP:0012718)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: Abnormal gastrointestinal tract morphology (HP:0012718)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PTCH1
Phenotype: Apathy (HP:0000741)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
Phenotype: Apathy (HP:0000741)
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: Apathy (HP:0000741)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: Apathy (HP:0000741)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PTCH1
Phenotype: Depression (HP:0000716)
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: Depression (HP:0000716)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: Depression (HP:0000716)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PTCH1
Phenotype: Depression (HP:0000716)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
Phenotype: Atypical behavior (HP:0000708)
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: Atypical behavior (HP:0000708)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PTCH1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: PTCH1
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
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: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PTCH1
Phenotype: Abnormal central motor function (HP:0011442)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
Phenotype: Abnormal central motor function (HP:0011442)
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 central motor function (HP:0011442)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: Abnormal central motor function (HP:0011442)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PTCH1
Phenotype: Short ribs (HP:0000773)
Associated disease: BASAL CELL NEVUS SYNDROME (OMIM:109400)
Gene: PTCH1
Phenotype: Abnormality of the sense of smell (HP:0004408)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH1
Phenotype: Short nose (HP:0003196)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: PTCH1
Phenotype: Short nose (HP:0003196)
Associated disease: HOLOPROSENCEPHALY 7 (OMIM:610828)
Gene: PTCH1
Phenotype: Short nose (HP:0003196)
Associated disease: Microdeletion 9q22.3; Monosomy 9q22.3 syndrome (ORPHA:77301)
Gene: PTCH1
Phenotype: Sprengel anomaly (HP:0000912)
Associated disease: BASAL CELL NEVUS SYNDROME (OMIM:109400)
Gene: PTCH1
Phenotype: Abnormality of the vertebral column (HP:0000925)
Associated disease: Microdeletion 9q22.3; Monosomy 9q22.3 syndrome (ORPHA:77301)
Gene: PTCH1
Phenotype: Abnormality of the skeletal system (HP:0000924)
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 skeletal system (HP:0000924)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PTCH1
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
Phenotype: Anterior rib cupping (HP:0000907)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH1
Phenotype: Rib fusion (HP:0000902)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH1
Phenotype: Diabetes insipidus (HP:0000873)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
Phenotype: Diabetes insipidus (HP:0000873)
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: Diabetes insipidus (HP:0000873)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: Diabetes insipidus (HP:0000873)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PTCH1
Phenotype: Bifid ribs (HP:0000892)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH1
Phenotype: Bifid ribs (HP:0000892)
Associated disease: BASAL CELL NEVUS SYNDROME (OMIM:109400)
Gene: PTCH1
Phenotype: Panhypopituitarism (HP:0000871)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: PTCH1
Phenotype: Panhypopituitarism (HP:0000871)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
Phenotype: Panhypopituitarism (HP:0000871)
Associated disease: HOLOPROSENCEPHALY 7 (OMIM:610828)
Gene: PTCH1
Phenotype: Panhypopituitarism (HP:0000871)
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: Panhypopituitarism (HP:0000871)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: Panhypopituitarism (HP:0000871)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PTCH1
Phenotype: Central diabetes insipidus (HP:0000863)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: PTCH1
Phenotype: Unilateral cleft lip (HP:0100333)
Associated disease: HOLOPROSENCEPHALY 7 (OMIM:610828)
Gene: PTCH1
Phenotype: Anterior hypopituitarism (HP:0000830)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: PTCH1
Phenotype: Bilateral cleft lip (HP:0100336)
Associated disease: HOLOPROSENCEPHALY 7 (OMIM:610828)
Gene: PTCH1
Phenotype: Bilateral cleft palate (HP:0100337)
Associated disease: HOLOPROSENCEPHALY 7 (OMIM:610828)
Gene: PTCH1
Phenotype: Unilateral cleft palate (HP:0100334)
Associated disease: HOLOPROSENCEPHALY 7 (OMIM:610828)
Gene: PTCH1
Phenotype: Proboscis (HP:0012806)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
Phenotype: Proboscis (HP:0012806)
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: Proboscis (HP:0012806)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: Proboscis (HP:0012806)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PTCH1
Phenotype: Abnormality of the endocrine system (HP:0000818)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: PTCH1
Phenotype: Abnormality of the endocrine system (HP:0000818)
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 endocrine system (HP:0000818)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: PTCH1
Phenotype: Abnormality of the endocrine system (HP:0000818)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)