|
ascending colon cancer
|
DOID_218 |
|
|
distal 10q deletion syndrome
|
DOID_0060390 |
[A chromosomal deletion syndrome that is characterized by developmental delay, intellectual disability, behavioral problems and facial facies caused by a missing copy of the long arm of chromosome 10.] |
|
obsolete Ankle or tarsus enthesopathy
|
DOID_211 |
|
|
chromosome
|
SO_0000340 |
|
|
heel spur
|
DOID_210 |
[An exostosis that results_in an abnormal growth located_in calcaneus.] |
|
exostosis
|
DOID_203 |
[A hyperostosis that involves formation of new bone on the surface of preexisting bone.] |
|
enamel caries
|
DOID_217 |
|
|
chromosome 16p11.2 deletion syndrome, 220-kb
|
DOID_0060398 |
[A chromosomal deletion syndrome that is characterized by developmental delay, mild intellectual disability and autism spectrum disorder and that has_material_basis_in a partial deletion of the short arm of chromosome 16, specifically a deletion of a 220-kb region on chromosome 16p11.2 (chr16:28.73-28.95 Mb) encompassing approximately 9 genes, including the SH2B1 gene.] |
|
chromosome 15q26-qter deletion syndrome
|
DOID_0060397 |
[A chromosomal deletion syndrome that is characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, brachy-clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits and mild craniofacial dysmorphism including microcephaly, triangular face, broad nasal bridge and micrognathia.] |
|
chromosome 15q25 deletion syndrome
|
DOID_0060396 |
[A chromosomal deletion syndrome that is characterized by intellectual disability and developmental delay, has_material_basis_in partial deletion of the long arm of chromosome 15.] |
|
chromosome 15q24 deletion syndrome
|
DOID_0060395 |
[A chromosomal deletion syndrome that is characterized by dysmorphic facial features, intellectual disability and seizure, has_material_basis_in autosomal dominant inheritance of mutation in the SIN3A gene causing partial deletion of the long arm of chromosome 15.] |
|
chromosome 15q13.3 microdeletion syndrome
|
DOID_0060394 |
[A chromosomal deletion syndrome that is characterized by intellectual dsability, developmental delay, autism spectrum disorder and seizure, has_material_basis_in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15.] |
|
chromosome 15q11.2 deletion syndrome
|
DOID_0060393 |
[A chromosomal deletion syndrome that is characterized by intellectual disability, dysmorphic facies, psychiatric illness and autism spectrum disorder, has_material_basis_in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15.] |
|
chromosome 14q11-q22 deletion syndrome
|
DOID_0060392 |
[A chromosomal deletion syndrome that is characterized by microcephaly, dysmorphic facies, psychomotor delay and failure to thrive, has_material_basis_in isolated cases of partial deletion of the long arm of chromosome 14.] |
|
chromosome 13q14 deletion syndrome
|
DOID_0060391 |
[A chromosomal deletion syndrome that is characterized by low birth weight, dysmorphic facies, limb defects, genital malformations and psychomotor developmental delay, has_material_basis_in deletion of the long arm of chromosome 13.] |
|
peach food product
|
FOODON_00002095 |
|
|
Orthohantavirus negraense
|
NCBITaxon_3052489 |
|
|
chromosome 10q23 deletion syndrome
|
DOID_0060389 |
[A chromosomal deletion syndrome that is characterized by dysmorphic facies, developmental delay and multiple congenital abnormalities and huvenile polyposis, has_material_basis_in recurrent deletions of chromosome 10q22.3-q23.2.] |
|
Orthohantavirus hantanense
|
NCBITaxon_3052480 |
|
|
obsolete hereditary neoplastic syndrome
|
DOID_208 |
|
