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Mullegama-Klein-Martinez syndrome
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DOID_0111845 |
[A syndromic X-linked intellectual disability characterized by global developmental delay with impaired intellectual development and poor speech and commonly associated with ear abnormalities, hearing loss, and dysmorphic facial features that has_material_basis_in heterozygous or hemizygous mutation in the STAG2 gene on chromosome Xq25.] |
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autosomal recessive nonsyndromic deafness 62
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DOID_0110514 |
[An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 12p13.2-p11.23.] |
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combined or isolated pituitary growth hormone deficiency 7
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DOID_0061016 |
[A combined pituitary hormone deficiency that has_material_basis_in compound heterozygous mutation in the RNPC3 gene on chromosome 1p21.] |
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combined pituitary hormone deficiency 4
|
DOID_0061017 |
[A combined pituitary hormone deficiency that has_material_basis_in heterozygous mutation in the LHX4 gene on chromosome 1q25.] |
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autosomal recessive nonsyndromic deafness 59
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DOID_0110511 |
[An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the DFNB59 gene on chromosome 2q31.] |
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Keipert syndrome
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DOID_0111842 |
[A syndrome characterized by craniofacial and digital abnormalities, mild to severe congenital sensorineural hearing loss, and variable learning difficulties that has_material_basis_in hemizygous mutation in the GPC4 gene on chromosome Xq26.2.] |
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combined or isolated pituitary hormone deficiency 8
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DOID_0061018 |
[A combined pituitary hormone deficiency that has_material_basis_in heterozygous mutation in the ROBO1 gene on chromosome 3p12.] |
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autosomal recessive nonsyndromic deafness 6
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DOID_0110512 |
[An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TMIE gene on chromosome 3p21.] |
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Paganini-Miozzo syndrome
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DOID_0111843 |
[A syndromic X-linked intellectual disability characterized by global developmental delay, impaired intellectual development, high myopia, and mild dysmorphic facial features that has_material_basis_in hemizygous mutation in the HS6ST2 gene on chromosome Xq26.2.] |
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combined or isolated pituitary hormone deficiency 1
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DOID_0061019 |
[A combined pituitary hormone deficiency that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the POU1F1 gene on chromosome 3p11.] |
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Van Esch-O'Driscoll syndrome
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DOID_0111840 |
[A syndromic X-linked intellectual disability characterized by variable degrees of intellectual disability, moderate to severe short stature, microcephaly, hypogonadism, and variable congenital malformations that has_material_basis_in hemizygous mutation in the POLA1 gene on chromosome Xp22.1-p21.3.] |
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Shukla-Vernon syndrome
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DOID_0111841 |
[A syndrome characterized by global developmental delay, variably impaired intellectual development, variable dysmorphic features, and behavioral abnormalities, including autism spectrum disorder and ADHD that has_material_basis_in hemizygous mutation in the BCORL1 gene on chromosome Xq26.1.] |
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autosomal recessive nonsyndromic deafness 55
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DOID_0110510 |
[An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q12-q13.2.] |
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transcript_translocation
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SO_0001883 |
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autosomal recessive nonsyndromic deafness 68
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DOID_0110519 |
[An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the S1PR2 gene on chromosome 19p13.] |
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craniosynostosis 1
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DOID_0061010 |
[A craniosynostosis that has_material_basis_in heterozygous mutation in the TWIST1 gene on chromosome 7p21.] |
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autosomal recessive nonsyndromic deafness 66
|
DOID_0110517 |
[An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the DCDC2 gene on chromosome 6p22.] |
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osteogenesis imperfecta type 18
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DOID_0111848 |
[An osteogenesis imperfecta characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life that has_material_basis_in homozygous or compound heterozygous mutation in TENT5A on chromosome 6q14.1.] |
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craniosynostosis 3
|
DOID_0061011 |
[A craniosynostosis that has_material_basis_in heterozygous mutation in the TCF12 gene on chromosome 15q21.] |
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osteogenesis imperfecta type 20
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DOID_0111849 |
[An osteogenesis imperfecta characterized by osteopenia, skeletal deformity, and both healed and new fractures on radiography that has_material_basis_in homozygous or compound heterozygous mutation in MESD on chromosome 15q25.1.] |
