TaoMedAI/RareMedData huggingface dataset:
Gene: SHH
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: SHH
Phenotype: Abnormality of the endocrine system (HP:0000818)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SHH
Phenotype: Abnormality of the endocrine system (HP:0000818)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SHH
Phenotype: Precocious puberty (HP:0000826)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: SHH
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SHH
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: SHH
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SHH
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SHH
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SHH
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR (OMIM:147250)
Gene: SHH
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SHH
Phenotype: Abnormality of limbs (HP:0040064)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SHH
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: SHH
Phenotype: Abnormality of limbs (HP:0040064)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SHH
Phenotype: Abnormality of limbs (HP:0040064)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SHH
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHH
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SHH
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHH
Phenotype: Neural tube defect (HP:0045005)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SHH
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: SHH
Phenotype: Neural tube defect (HP:0045005)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SHH
Phenotype: Neural tube defect (HP:0045005)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SHH
Phenotype: Abnormal hypothalamus physiology (HP:0012285)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SHH
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: SHH
Phenotype: Abnormal hypothalamus physiology (HP:0012285)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SHH
Phenotype: Abnormal hypothalamus physiology (HP:0012285)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SHH
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHH
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHH
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: SHH
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SHH
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SHH
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SHH
Phenotype: Malar flattening (HP:0000272)
Associated disease: HOLOPROSENCEPHALY 3 (OMIM:142945)
Gene: SHH
Phenotype: Patellar aplasia (HP:0006443)
Associated disease: Absent tibia-polydactyly syndrome; Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome; Werner mesomelic spectrum (ORPHA:988)
Gene: SHH
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: SHH
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SHH
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SHH
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHH
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SHH
Phenotype: Synostosis of carpal bones (HP:0005048)
Associated disease: Absent tibia-polydactyly syndrome; Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome; Werner mesomelic spectrum (ORPHA:988)
Gene: SHH
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: SHH
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SHH
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SHH
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SHH
Phenotype: Microcephaly (HP:0000252)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: SHH
Phenotype: Microcephaly (HP:0000252)
Associated disease: HOLOPROSENCEPHALY 3 (OMIM:142945)
Gene: SHH
Phenotype: Microcephaly (HP:0000252)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SHH
Phenotype: Microcephaly (HP:0000252)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SHH
Phenotype: Microcephaly (HP:0000252)
Associated disease: SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR (OMIM:147250)
Gene: SHH
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: SHH
Phenotype: Microcephaly (HP:0000252)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SHH
Phenotype: Microcephaly (HP:0000252)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SHH
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHH
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: SHH
Phenotype: High palate (HP:0000218)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SHH
Phenotype: High palate (HP:0000218)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SHH
Phenotype: High palate (HP:0000218)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SHH
Phenotype: Anteriorly placed anus (HP:0001545)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: SHH
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SHH
Phenotype: Central apnea (HP:0002871)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SHH
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: SHH
Phenotype: Central apnea (HP:0002871)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SHH
Phenotype: Central apnea (HP:0002871)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SHH
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5 (OMIM:611638)
Gene: SHH
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SHH
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SHH
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR (OMIM:147250)
Gene: SHH
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: SHH
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SHH
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SHH
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SHH
Phenotype: 6 metacarpals (HP:0001501)
Associated disease: Syndactyly type 4; Polysyndactyly, Haas type (ORPHA:93405)
Gene: SHH
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: SHH
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHH
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: SHH
Phenotype: Growth delay (HP:0001510)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SHH
Phenotype: Growth delay (HP:0001510)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SHH
Phenotype: Growth delay (HP:0001510)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SHH
Phenotype: Aplasia/Hypoplasia of the radius (HP:0006501)
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: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SHH
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHH
Phenotype: Chronic lung disease (HP:0006528)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SHH
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: SHH
Phenotype: Chronic lung disease (HP:0006528)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SHH
Phenotype: Chronic lung disease (HP:0006528)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SHH
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHH
Phenotype: Abnormality of chromosome segregation (HP:0002916)
Associated disease: SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR (OMIM:147250)
Gene: SHH
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SHH
Phenotype: Abnormality of the nose (HP:0000366)
Associated disease: HOLOPROSENCEPHALY 3 (OMIM:142945)
Gene: SHH
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHH
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SHH
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: SHH
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHH
Phenotype: Abnormal fibula morphology (HP:0002991)
Associated disease: Absent tibia-polydactyly syndrome; Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome; Werner mesomelic spectrum (ORPHA:988)
Gene: SHH
Phenotype: Short philtrum (HP:0000322)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SHH
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: SHH
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SHH
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SHH
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SHH
Phenotype: Premature birth (HP:0001622)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SHH
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHH
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: SHH
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SHH
Phenotype: Abnormal nasopharynx morphology (HP:0001739)
Associated disease: SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR (OMIM:147250)
Gene: SHH
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: SHH
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SHH
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SHH
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SHH
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHH
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: HOLOPROSENCEPHALY 3 (OMIM:142945)
Gene: SHH
Phenotype: Strabismus (HP:0000486)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SHH
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: SHH
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SHH
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SHH
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SHH
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SHH
Phenotype: Anosmia (HP:0000458)
Associated disease: SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR (OMIM:147250)
Gene: SHH
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: SHH
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SHH
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SHH
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SHH
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHH
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Syndactyly type 4; Polysyndactyly, Haas type (ORPHA:93405)
Gene: SHH
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHH
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHH
Phenotype: Choanal atresia (HP:0000453)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SHH
Phenotype: Choanal atresia (HP:0000453)
Associated disease: SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR (OMIM:147250)
Gene: SHH
Phenotype: Narrow nasal bridge (HP:0000446)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SHH
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHH
Phenotype: Anophthalmia (HP:0000528)
Associated disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5 (OMIM:611638)
Gene: SHH
Phenotype: Anophthalmia (HP:0000528)
Associated disease: SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR (OMIM:147250)
Gene: SHH
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SHH
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHH
Phenotype: Proptosis (HP:0000520)
Associated disease: HOLOPROSENCEPHALY 3 (OMIM:142945)
Gene: SHH
Phenotype: Foot polydactyly (HP:0001829)
Associated disease: Syndactyly type 4; Polysyndactyly, Haas type (ORPHA:93405)
Gene: SHH
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5 (OMIM:611638)
Gene: SHH
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHH
Phenotype: Coloboma (HP:0000589)
Associated disease: SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR (OMIM:147250)
Gene: SHH
Phenotype: Microphthalmia (HP:0000568)
Associated disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5 (OMIM:611638)
Gene: SHH
Phenotype: Microphthalmia (HP:0000568)
Associated disease: SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR (OMIM:147250)
Gene: SHH
Phenotype: Chorioretinal coloboma (HP:0000567)
Associated disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5 (OMIM:611638)
Gene: SHH
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHH
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SHMT2
Phenotype: Adducted thumb (HP:0001181)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES (OMIM:619121)
Gene: SHMT2
Phenotype: Expressive language delay (HP:0002474)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES (OMIM:619121)
Gene: SHMT2
Phenotype: Complete duplication of thumb phalanx (HP:0009943)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES (OMIM:619121)
Gene: SHMT2
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES (OMIM:619121)
Gene: SHMT2
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES (OMIM:619121)
Gene: SHMT2
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES (OMIM:619121)
Gene: SHMT2
Phenotype: Facial diplegia (HP:0001349)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES (OMIM:619121)
Gene: SHMT2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES (OMIM:619121)
Gene: SHMT2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES (OMIM:619121)
Gene: SHMT2
Phenotype: Dysmetria (HP:0001310)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES (OMIM:619121)
Gene: SHMT2
Phenotype: Scoliosis (HP:0002650)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES (OMIM:619121)
Gene: SHMT2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES (OMIM:619121)
Gene: SHMT2
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES (OMIM:619121)
Gene: SHMT2
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES (OMIM:619121)
Gene: SHMT2
Phenotype: Spastic gait (HP:0002064)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES (OMIM:619121)
Gene: SHMT2
Phenotype: Sensory axonal neuropathy (HP:0003390)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES (OMIM:619121)
Gene: SHMT2
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES (OMIM:619121)
Gene: SHMT2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES (OMIM:619121)