TaoMedAI/RareMedData huggingface dataset:
Gene: SHH
Phenotype: Seizure (HP:0001250)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SHH
Phenotype: Seizure (HP:0001250)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SHH
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHH
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: SHH
Phenotype: Intellectual disability (HP:0001249)
Associated disease: HOLOPROSENCEPHALY 3 (OMIM:142945)
Gene: SHH
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SHH
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SHH
Phenotype: Intellectual disability (HP:0001249)
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: SHH
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SHH
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SHH
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHH
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HOLOPROSENCEPHALY 3 (OMIM:142945)
Gene: SHH
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHH
Phenotype: Spasticity (HP:0001257)
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: SHH
Phenotype: Spasticity (HP:0001257)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SHH
Phenotype: Spasticity (HP:0001257)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SHH
Phenotype: Spasticity (HP:0001257)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SHH
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SHH
Phenotype: Abnormal septum pellucidum morphology (HP:0007375)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: SHH
Phenotype: Frontoethmoidal encephalocele (HP:0007330)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: SHH
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: SHH
Phenotype: Inability to walk (HP:0002540)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SHH
Phenotype: Inability to walk (HP:0002540)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SHH
Phenotype: Inability to walk (HP:0002540)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SHH
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SHH
Phenotype: Variable expressivity (HP:0003828)
Associated disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5 (OMIM:611638)
Gene: SHH
Phenotype: Variable expressivity (HP:0003828)
Associated disease: SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR (OMIM:147250)
Gene: SHH
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: HOLOPROSENCEPHALY 3 (OMIM:142945)
Gene: SHH
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5 (OMIM:611638)
Gene: SHH
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SHH
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Syndactyly type 4; Polysyndactyly, Haas type (ORPHA:93405)
Gene: SHH
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: SHH
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SHH
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SHH
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SHH
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHH
Phenotype: Megalencephaly (HP:0001355)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: SHH
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SHH
Phenotype: Holoprosencephaly (HP:0001360)
Associated disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5 (OMIM:611638)
Gene: SHH
Phenotype: Holoprosencephaly (HP:0001360)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SHH
Phenotype: Holoprosencephaly (HP:0001360)
Associated disease: SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR (OMIM:147250)
Gene: SHH
Phenotype: Holoprosencephaly (HP:0001360)
Associated disease: HOLOPROSENCEPHALY 3 (OMIM:142945)
Gene: SHH
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHH
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: SHH
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SHH
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SHH
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: SHH
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SHH
Phenotype: Specific learning disability (HP:0001328)
Associated disease: SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR (OMIM:147250)
Gene: SHH
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHH
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SHH
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: SHH
Phenotype: Absent speech (HP:0001344)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SHH
Phenotype: Absent speech (HP:0001344)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SHH
Phenotype: Absent speech (HP:0001344)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SHH
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHH
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHH
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5 (OMIM:611638)
Gene: SHH
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR (OMIM:147250)
Gene: SHH
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HOLOPROSENCEPHALY 3 (OMIM:142945)
Gene: SHH
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SHH
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: SHH
Phenotype: Scoliosis (HP:0002650)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SHH
Phenotype: Scoliosis (HP:0002650)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SHH
Phenotype: Scoliosis (HP:0002650)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SHH
Phenotype: Scoliosis (HP:0002650)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SHH
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SHH
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHH
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SHH
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHH
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHH
Phenotype: Bifid uvula (HP:0000193)
Associated disease: HOLOPROSENCEPHALY 3 (OMIM:142945)
Gene: SHH
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: SHH
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SHH
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SHH
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SHH
Phenotype: Median cleft upper lip (HP:0000161)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SHH
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: SHH
Phenotype: Median cleft upper lip (HP:0000161)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SHH
Phenotype: Median cleft upper lip (HP:0000161)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SHH
Phenotype: Cleft palate (HP:0000175)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SHH
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: SHH
Phenotype: Cleft palate (HP:0000175)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SHH
Phenotype: Cleft palate (HP:0000175)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SHH
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHH
Phenotype: Cleft palate (HP:0000175)
Associated disease: HOLOPROSENCEPHALY 3 (OMIM:142945)
Gene: SHH
Phenotype: Cleft palate (HP:0000175)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SHH
Phenotype: Cleft lip (HP:0410030)
Associated disease: HOLOPROSENCEPHALY 3 (OMIM:142945)
Gene: SHH
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: SHH
Phenotype: Solitary median maxillary central incisor (HP:0006315)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SHH
Phenotype: Solitary median maxillary central incisor (HP:0006315)
Associated disease: SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR (OMIM:147250)
Gene: SHH
Phenotype: Solitary median maxillary central incisor (HP:0006315)
Associated disease: HOLOPROSENCEPHALY 3 (OMIM:142945)
Gene: SHH
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: SHH
Phenotype: Solitary median maxillary central incisor (HP:0006315)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SHH
Phenotype: Solitary median maxillary central incisor (HP:0006315)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SHH
Phenotype: Bilateral microphthalmos (HP:0007633)
Associated disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5 (OMIM:611638)
Gene: SHH
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: SHH
Phenotype: Floppy infant (HP:0008947)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SHH
Phenotype: Floppy infant (HP:0008947)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SHH
Phenotype: Floppy infant (HP:0008947)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SHH
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: SHH
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SHH
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SHH
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SHH
Phenotype: Prominent median palatal raphe (HP:0002708)
Associated disease: SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR (OMIM:147250)
Gene: SHH
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: SHH
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SHH
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: SHH
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SHH
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SHH
Phenotype: Abnormal pattern of respiration (HP:0002793)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SHH
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: SHH
Phenotype: Abnormal pattern of respiration (HP:0002793)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SHH
Phenotype: Abnormal pattern of respiration (HP:0002793)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SHH
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: HOLOPROSENCEPHALY 3 (OMIM:142945)
Gene: SHH
Phenotype: Renal agenesis (HP:0000104)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SHH
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: SHH
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SHH
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SHH
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SHH
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: SHH
Phenotype: Constipation (HP:0002019)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SHH
Phenotype: Constipation (HP:0002019)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SHH
Phenotype: Constipation (HP:0002019)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SHH
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: SHH
Phenotype: Poor suck (HP:0002033)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SHH
Phenotype: Poor suck (HP:0002033)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SHH
Phenotype: Poor suck (HP:0002033)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SHH
Phenotype: Short columella (HP:0002000)
Associated disease: HOLOPROSENCEPHALY 3 (OMIM:142945)
Gene: SHH
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: SHH
Phenotype: Dysphagia (HP:0002015)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SHH
Phenotype: Dysphagia (HP:0002015)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SHH
Phenotype: Dysphagia (HP:0002015)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: SHH
Phenotype: Dysphagia (HP:0002015)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SHH
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: SHH
Phenotype: Vomiting (HP:0002013)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SHH
Phenotype: Vomiting (HP:0002013)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SHH
Phenotype: Vomiting (HP:0002013)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SHH
Phenotype: Abnormal morphology of the olfactory bulb (HP:0040327)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SHH
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: SHH
Phenotype: Abnormal morphology of the olfactory bulb (HP:0040327)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SHH
Phenotype: Abnormal morphology of the olfactory bulb (HP:0040327)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SHH
Phenotype: Temperature instability (HP:0005968)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SHH
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: SHH
Phenotype: Temperature instability (HP:0005968)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SHH
Phenotype: Temperature instability (HP:0005968)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SHH
Phenotype: Midface retrusion (HP:0011800)
Associated disease: HOLOPROSENCEPHALY 3 (OMIM:142945)
Gene: SHH
Phenotype: Asthma (HP:0002099)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SHH
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SHH
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHH
Phenotype: Deviation of the hand or of fingers of the hand (HP:0009484)
Associated disease: Isolated radial club hand; Isolated congenital longitudinal deficiency of the radius; Isolated radial hemimelia; Isolated radial longitidinal meromelia; Isolated radial ray agenesis (ORPHA:93321)
Gene: SHH
Phenotype: Central hypothyroidism (HP:0011787)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SHH
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: SHH
Phenotype: Central hypothyroidism (HP:0011787)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SHH
Phenotype: Central hypothyroidism (HP:0011787)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SHH
Phenotype: Abnormal vertebral morphology (HP:0003468)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: SHH
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: HOLOPROSENCEPHALY 3 (OMIM:142945)
Gene: SHH
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: SHH
Phenotype: Aplasia/Hypoplasia of the thumb (HP:0009601)
Associated disease: Absent tibia-polydactyly syndrome; Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome; Werner mesomelic spectrum (ORPHA:988)
Gene: SHH
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Syndactyly type 4; Polysyndactyly, Haas type (ORPHA:93405)
Gene: SHH
Phenotype: Abnormality of the autonomic nervous system (HP:0002270)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SHH
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)