TaoMedAI/RareMedData huggingface dataset:
Gene: GLI2
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GLI2
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI2
Phenotype: Abnormal central motor function (HP:0011442)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GLI2
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: GLI2
Phenotype: Abnormal central motor function (HP:0011442)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GLI2
Phenotype: Abnormal central motor function (HP:0011442)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GLI2
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI2
Phenotype: Infertility (HP:0000789)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: GLI2
Phenotype: Short nose (HP:0003196)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: GLI2
Phenotype: Short nose (HP:0003196)
Associated disease: HOLOPROSENCEPHALY 9 (OMIM:610829)
Gene: GLI2
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: GLI2
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GLI2
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GLI2
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GLI2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI2
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI2
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI2
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLI2
Phenotype: Diabetes insipidus (HP:0000873)
Associated disease: CULLER-JONES SYNDROME (OMIM:615849)
Gene: GLI2
Phenotype: Diabetes insipidus (HP:0000873)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GLI2
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: GLI2
Phenotype: Diabetes insipidus (HP:0000873)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GLI2
Phenotype: Diabetes insipidus (HP:0000873)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GLI2
Phenotype: Panhypopituitarism (HP:0000871)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: GLI2
Phenotype: Panhypopituitarism (HP:0000871)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GLI2
Phenotype: Panhypopituitarism (HP:0000871)
Associated disease: HOLOPROSENCEPHALY 9 (OMIM:610829)
Gene: GLI2
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: GLI2
Phenotype: Panhypopituitarism (HP:0000871)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GLI2
Phenotype: Panhypopituitarism (HP:0000871)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GLI2
Phenotype: Central diabetes insipidus (HP:0000863)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: GLI2
Phenotype: Pituitary dwarfism (HP:0000839)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: GLI2
Phenotype: Anterior hypopituitarism (HP:0000830)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: GLI2
Phenotype: Bilateral cleft lip (HP:0100336)
Associated disease: HOLOPROSENCEPHALY 9 (OMIM:610829)
Gene: GLI2
Phenotype: Bilateral cleft palate (HP:0100337)
Associated disease: HOLOPROSENCEPHALY 9 (OMIM:610829)
Gene: GLI2
Phenotype: Proboscis (HP:0012806)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GLI2
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: GLI2
Phenotype: Proboscis (HP:0012806)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GLI2
Phenotype: Proboscis (HP:0012806)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GLI2
Phenotype: Abnormality of the endocrine system (HP:0000818)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GLI2
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: GLI2
Phenotype: Abnormality of the endocrine system (HP:0000818)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GLI2
Phenotype: Abnormality of the endocrine system (HP:0000818)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GLI2
Phenotype: Precocious puberty (HP:0000826)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: GLI2
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: GLI2
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: GLI2
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GLI2
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GLI2
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: HOLOPROSENCEPHALY 9 (OMIM:610829)
Gene: GLI2
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: GLI2
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GLI2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLI2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: GLI2
Phenotype: Short hard palate (HP:0010290)
Associated disease: HOLOPROSENCEPHALY 9 (OMIM:610829)
Gene: GLI2
Phenotype: Abnormality of limbs (HP:0040064)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GLI2
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: GLI2
Phenotype: Abnormality of limbs (HP:0040064)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GLI2
Phenotype: Abnormality of limbs (HP:0040064)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GLI2
Phenotype: Hypopituitarism (HP:0040075)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: GLI2
Phenotype: Hypopituitarism (HP:0040075)
Associated disease: CULLER-JONES SYNDROME (OMIM:615849)
Gene: GLI2
Phenotype: Abnormal prolactin level (HP:0040086)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: GLI2
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLI2
Phenotype: Aplasia/Hypoplasia of the breasts (HP:0010311)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: GLI2
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: CULLER-JONES SYNDROME (OMIM:615849)
Gene: GLI2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI2
Phenotype: Neural tube defect (HP:0045005)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GLI2
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: GLI2
Phenotype: Neural tube defect (HP:0045005)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GLI2
Phenotype: Neural tube defect (HP:0045005)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GLI2
Phenotype: Osteopenia (HP:0000938)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: GLI2
Phenotype: Abnormal hypothalamus physiology (HP:0012285)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GLI2
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: GLI2
Phenotype: Abnormal hypothalamus physiology (HP:0012285)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GLI2
Phenotype: Abnormal hypothalamus physiology (HP:0012285)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GLI2
Phenotype: Epicanthus (HP:0000286)
Associated disease: HOLOPROSENCEPHALY 9 (OMIM:610829)
Gene: GLI2
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI2
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: HOLOPROSENCEPHALY 9 (OMIM:610829)
Gene: GLI2
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: GLI2
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GLI2
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GLI2
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GLI2
Phenotype: Malar flattening (HP:0000272)
Associated disease: HOLOPROSENCEPHALY 9 (OMIM:610829)
Gene: GLI2
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: GLI2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GLI2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GLI2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GLI2
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: GLI2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GLI2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GLI2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: HOLOPROSENCEPHALY 9 (OMIM:610829)
Gene: GLI2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GLI2
Phenotype: Microcephaly (HP:0000252)
Associated disease: HOLOPROSENCEPHALY 9 (OMIM:610829)
Gene: GLI2
Phenotype: Microcephaly (HP:0000252)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: GLI2
Phenotype: Microcephaly (HP:0000252)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GLI2
Phenotype: Microcephaly (HP:0000252)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: GLI2
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: GLI2
Phenotype: Microcephaly (HP:0000252)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GLI2
Phenotype: Microcephaly (HP:0000252)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GLI2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI2
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: GLI2
Phenotype: High palate (HP:0000218)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GLI2
Phenotype: High palate (HP:0000218)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GLI2
Phenotype: High palate (HP:0000218)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GLI2
Phenotype: Anteriorly placed anus (HP:0001545)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: GLI2
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLI2
Phenotype: Central apnea (HP:0002871)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GLI2
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: GLI2
Phenotype: Central apnea (HP:0002871)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GLI2
Phenotype: Central apnea (HP:0002871)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GLI2
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: GLI2
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLI2
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: HOLOPROSENCEPHALY 9 (OMIM:610829)
Gene: GLI2
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: CULLER-JONES SYNDROME (OMIM:615849)
Gene: GLI2
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: GLI2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GLI2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GLI2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GLI2
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: GLI2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI2
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: GLI2
Phenotype: Growth delay (HP:0001510)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GLI2
Phenotype: Growth delay (HP:0001510)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GLI2
Phenotype: Growth delay (HP:0001510)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: GLI2
Phenotype: Growth delay (HP:0001510)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GLI2
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLI2
Phenotype: Fatigue (HP:0012378)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: GLI2
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: HOLOPROSENCEPHALY 9 (OMIM:610829)
Gene: GLI2
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI2
Phenotype: Prominent antihelix (HP:0000395)
Associated disease: HOLOPROSENCEPHALY 9 (OMIM:610829)
Gene: GLI2
Phenotype: Chronic lung disease (HP:0006528)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GLI2
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: GLI2
Phenotype: Chronic lung disease (HP:0006528)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GLI2
Phenotype: Chronic lung disease (HP:0006528)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GLI2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI2
Phenotype: Decreased circulating ACTH concentration (HP:0002920)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: GLI2
Phenotype: Agenesis of incisor (HP:0006485)
Associated disease: HOLOPROSENCEPHALY 9 (OMIM:610829)
Gene: GLI2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLI2
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: HOLOPROSENCEPHALY 9 (OMIM:610829)
Gene: GLI2
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI2
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLI2
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: GLI2
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI2
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: HOLOPROSENCEPHALY 9 (OMIM:610829)
Gene: GLI2
Phenotype: Short philtrum (HP:0000322)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: GLI2
Phenotype: Short philtrum (HP:0000322)
Associated disease: HOLOPROSENCEPHALY 9 (OMIM:610829)
Gene: GLI2
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: HOLOPROSENCEPHALY 9 (OMIM:610829)
Gene: GLI2
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: GLI2
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GLI2
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GLI2
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GLI2
Phenotype: Premature birth (HP:0001622)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: GLI2
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI2
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: GLI2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLI2
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: GLI2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GLI2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GLI2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GLI2
Phenotype: Macrotia (HP:0000400)
Associated disease: HOLOPROSENCEPHALY 9 (OMIM:610829)