TaoMedAI/RareMedData huggingface dataset:
Gene: SHH
Phenotype: Abnormality of the autonomic nervous system (HP:0002270)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SHH
Phenotype: Abnormality of the autonomic nervous system (HP:0002270)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SHH
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: SHH
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SHH
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SHH
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SHH
Phenotype: Impulsivity (HP:0100710)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: SHH
Phenotype: Duodenal atresia (HP:0002247)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SHH
Phenotype: 1-5 finger cutaneous syndactyly (HP:0010708)
Associated disease: Syndactyly type 4; Polysyndactyly, Haas type (ORPHA:93405)
Gene: SHH
Phenotype: Torus palatinus (HP:0100789)
Associated disease: SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR (OMIM:147250)
Gene: SHH
Phenotype: Aplasia of the falx cerebri (HP:0010654)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SHH
Phenotype: Aplasia of the falx cerebri (HP:0010654)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: SHH
Phenotype: Aplasia of the falx cerebri (HP:0010654)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SHH
Phenotype: Aplasia of the falx cerebri (HP:0010654)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SHH
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: SHH
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SHH
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SHH
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SHH
Phenotype: Midnasal stenosis (HP:0010644)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SHH
Phenotype: Midnasal stenosis (HP:0010644)
Associated disease: SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR (OMIM:147250)
Gene: SHH
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: SHH
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SHH
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SHH
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SHH
Phenotype: Aspiration pneumonia (HP:0011951)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SHH
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: SHH
Phenotype: Aspiration pneumonia (HP:0011951)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SHH
Phenotype: Aspiration pneumonia (HP:0011951)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SHH
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHH
Phenotype: Pyriform aperture stenosis (HP:0025011)
Associated disease: SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR (OMIM:147250)
Gene: SHH
Phenotype: Abnormal brainstem morphology (HP:0002363)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SHH
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: SHH
Phenotype: Abnormal brainstem morphology (HP:0002363)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SHH
Phenotype: Abnormal brainstem morphology (HP:0002363)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SHH
Phenotype: Hemangioma (HP:0001028)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SHH
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SHH
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHH
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: SHH
Phenotype: Maternal diabetes (HP:0009800)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SHH
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHH
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SHH
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SHH
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SHH
Phenotype: Abnormal heart rate variability (HP:0031860)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SHH
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: SHH
Phenotype: Abnormal heart rate variability (HP:0031860)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SHH
Phenotype: Abnormal heart rate variability (HP:0031860)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SHH
Phenotype: Abnormal scaphoid morphology (HP:0004243)
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: Abnormal trapezium morphology (HP:0004252)
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: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHH
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SHH
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SHH
Phenotype: Iris coloboma (HP:0000612)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SHH
Phenotype: Iris coloboma (HP:0000612)
Associated disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5 (OMIM:611638)
Gene: SHH
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHH
Phenotype: Hypotelorism (HP:0000601)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SHH
Phenotype: Hypotelorism (HP:0000601)
Associated disease: HOLOPROSENCEPHALY 3 (OMIM:142945)
Gene: SHH
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: SHH
Phenotype: Hypotelorism (HP:0000601)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SHH
Phenotype: Hypotelorism (HP:0000601)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SHH
Phenotype: Hypotelorism (HP:0000601)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SHH
Phenotype: Hypotelorism (HP:0000601)
Associated disease: SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR (OMIM:147250)
Gene: SHH
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SHH
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHH
Phenotype: Aplasia of the 1st metacarpal (HP:0010035)
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: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHH
Phenotype: Perisylvian polymicrogyria (HP:0012650)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: SHH
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SHH
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHH
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHH
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHH
Phenotype: Short stature (HP:0004322)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SHH
Phenotype: Short stature (HP:0004322)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SHH
Phenotype: Short stature (HP:0004322)
Associated disease: SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR (OMIM:147250)
Gene: SHH
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: SHH
Phenotype: Short stature (HP:0004322)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SHH
Phenotype: Short stature (HP:0004322)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SHH
Phenotype: Short stature (HP:0004322)
Associated disease: Absent tibia-polydactyly syndrome; Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome; Werner mesomelic spectrum (ORPHA:988)
Gene: SHH
Phenotype: Sleep-wake cycle disturbance (HP:0006979)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SHH
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: SHH
Phenotype: Sleep-wake cycle disturbance (HP:0006979)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SHH
Phenotype: Sleep-wake cycle disturbance (HP:0006979)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SHH
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: SHH
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SHH
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SHH
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHH
Phenotype: Rhombencephalosynapsis (HP:0031913)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: SHH
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHH
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHH
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHH
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: SHH
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHH
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHH
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHH
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: SHH
Phenotype: Irritability (HP:0000737)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SHH
Phenotype: Irritability (HP:0000737)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SHH
Phenotype: Irritability (HP:0000737)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SHH
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: SHH
Phenotype: Anxiety (HP:0000739)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SHH
Phenotype: Anxiety (HP:0000739)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SHH
Phenotype: Anxiety (HP:0000739)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SHH
Phenotype: Short attention span (HP:0000736)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: SHH
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHH
Phenotype: Abnormal gastrointestinal tract morphology (HP:0012718)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SHH
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: SHH
Phenotype: Abnormal gastrointestinal tract morphology (HP:0012718)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SHH
Phenotype: Abnormal gastrointestinal tract morphology (HP:0012718)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SHH
Phenotype: Apathy (HP:0000741)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SHH
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: SHH
Phenotype: Apathy (HP:0000741)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SHH
Phenotype: Apathy (HP:0000741)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SHH
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: SHH
Phenotype: Depression (HP:0000716)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SHH
Phenotype: Depression (HP:0000716)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SHH
Phenotype: Depression (HP:0000716)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SHH
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: SHH
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SHH
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SHH
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SHH
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: SHH
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SHH
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: SHH
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SHH
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SHH
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHH
Phenotype: Abnormal central motor function (HP:0011442)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SHH
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: SHH
Phenotype: Abnormal central motor function (HP:0011442)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SHH
Phenotype: Abnormal central motor function (HP:0011442)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SHH
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHH
Phenotype: Aplasia/Hypoplasia of the tibia (HP:0005772)
Associated disease: Absent tibia-polydactyly syndrome; Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome; Werner mesomelic spectrum (ORPHA:988)
Gene: SHH
Phenotype: Short tibia (HP:0005736)
Associated disease: Syndactyly type 4; Polysyndactyly, Haas type (ORPHA:93405)
Gene: SHH
Phenotype: Short nose (HP:0003196)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SHH
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: SHH
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SHH
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SHH
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SHH
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHH
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHH
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHH
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SHH
Phenotype: Diabetes insipidus (HP:0000873)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SHH
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: SHH
Phenotype: Diabetes insipidus (HP:0000873)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SHH
Phenotype: Diabetes insipidus (HP:0000873)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SHH
Phenotype: Panhypopituitarism (HP:0000871)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SHH
Phenotype: Panhypopituitarism (HP:0000871)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SHH
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: SHH
Phenotype: Panhypopituitarism (HP:0000871)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SHH
Phenotype: Panhypopituitarism (HP:0000871)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SHH
Phenotype: Central diabetes insipidus (HP:0000863)
Associated disease: HOLOPROSENCEPHALY 3 (OMIM:142945)
Gene: SHH
Phenotype: Central diabetes insipidus (HP:0000863)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: SHH
Phenotype: Anterior hypopituitarism (HP:0000830)
Associated disease: SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR (OMIM:147250)
Gene: SHH
Phenotype: Anterior hypopituitarism (HP:0000830)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: SHH
Phenotype: Proboscis (HP:0012806)
Associated disease: HOLOPROSENCEPHALY 3 (OMIM:142945)
Gene: SHH
Phenotype: Proboscis (HP:0012806)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SHH
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: SHH
Phenotype: Proboscis (HP:0012806)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SHH
Phenotype: Proboscis (HP:0012806)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SHH
Phenotype: Abnormality of the endocrine system (HP:0000818)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)