| Disease Browser
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Parent Node:
 Abnormalities, Multiple (D000015) | Parent Node:
Ectromelia (D004480) | Parent Node:
Encephalocele (D004677) | Parent Node:
Thrombocytopenia (D013921) | Parent Node:
Urogenital Abnormalities (D014564) | ..Starting node
.. DK Phocomelia Syndrome (C565618)
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Child Nodes:
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Sister Nodes: | ..Allanson Pantzar McLeod syndrome (C537048)  1
| ..ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
| ..Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects (C563994)
| ..B-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations (C563745)
| ..BEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
| ..Bladder Exstrophy (D001746) 1
| ..Calabro syndrome (C537960)
| ..Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly (C563936)
| ..Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence (C563127)
| ..Cryptorchidism (D003456) 12
| ..Disorders of Sex Development (D012734) 107
| ..DK Phocomelia Syndrome (C565618)
| ..Duker Weiss Siber syndrome (C535719)
| ..Epispadias (D004842) 1
| ..Genitopatellar Syndrome (C565255)
| ..Genitourinary Tract Anomalies (C564424)
| ..Hand foot uterus syndrome (C535627)
| ..Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities (C563935)
| ..Hypospadias (D007021) 17
| ..Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies (C564543)
| ..Lissencephaly, X-Linked, 2 (C564563)
| ..Microcephaly seizures genital hypoplasia (C537540)
| ..Microphthalmia, Syndromic 6 (C566440)
| ..Multicystic Dysplastic Kidney (D021782) 2
| ..Myotubular Myopathy with Abnormal Genital Development (C564561)
| ..Nephritis, Hereditary (D009394) 11
| ..Nephrosis deafness urinary tract digital malformation (C536402)
| ..Noduli Cutanei, Multiple, with Urinary Tract Abnormalities (C563512)
| ..Omphalocele exstrophy imperforate anus (C537748)
| ..Piepkorn Karp Hickok syndrome (C535774)
| ..Popliteal Pterygium Syndrome (C562509)
| ..Proud Syndrome (C563110)
| ..Pyelectasis (D058536)
| ..Renal Adysplasia (C563261)
| ..Renal dysplasia - limb defects syndrome (C537754)
| ..Renal, Genital, and Middle Ear Anomalies (C564849)
| ..Retrocaval Ureter (D064749)
| ..Robinow Syndrome, Autosomal Dominant (C562492)
| ..Rosselli-Gulienetti Syndrome (C563117)
| ..Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects (C566662)
| ..Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies (C564799)
| ..Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations (C567475)
| ..Ureter, Bifid Or Double (C566012)
| ..Urinary Fistula (D014548) 2
| ..Uterine Anomalies (C562565)
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Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
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| Term ID: | 3434 |
| Name: | DK Phocomelia Syndrome |
| Definition: | |
| Alternative IDs: | |
| ParentIDs: | MESH:D000015|MESH:D004480|MESH:D004677|MESH:D013921|MESH:D014564 |
| TreeNumbers: | C05.660.585.350/C565618 |C10.500.680.488/C565618 |C12.706/C565618 |C13.351.875/C565618 |C15.378.140.855/C565618 |C16.131.077/C565618 |C16.131.621.585.350/C565618 |C16.131.666.680.488/C565618 |C16.131.939/C565618 |C23.300.707.186/C565618 |
| Synonyms: | Phocomelia, Thrombocytopenia, Encephalocele, Urogenital Malformations |Von Voss-Cherstvoy Syndrome |
| Slim Mappings: | Blood disease|Congenital abnormality|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition)|Urogenital disease (female)|Urogenital disease (male) |
| Reference: |
MedGen: C565618
MeSH: C565618
OMIM: 223340;
Genes: | | Phenotypes | | | Disease Causing ClinVar Variants | |
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