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Ontology Browser

Term:
linear skin defects with multiple congenital anomalies 1 (DOID:0111808)
Annotations: Rat: (3) Mouse: (3) Human: (3) Chinchilla: (3) Bonobo: (3) Dog: (3) Squirrel: (3) Pig: (3)
Parent Terms Term With Siblings Child Terms
46,XX sex reversal 1  
46,XX sex reversal 3 
alpha thalassemia-X-linked intellectual disability syndrome  
amelogenesis imperfecta type 1E  
Charcot-Marie-Tooth disease X-linked dominant 1  
Charcot-Marie-Tooth disease X-linked dominant 6  
CHILD syndrome  
Christianson syndrome  
chromosome Xp11.23-p11.22 duplication syndrome 
Coffin-Lowry syndrome  
congenital disorder of glycosylation type IIm  
congenital nystagmus 5 
Cornelia de Lange syndrome 2  
Cornelia de Lange syndrome 5  
craniofrontonasal syndrome  
Danon disease  
early infantile epileptic encephalopathy 36  
female-restricted syndromic X-linked intellectual disability 99  
focal dermal hypoplasia +   
fragile X syndrome +   
linear skin defects with multiple congenital anomalies 1  
A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia and linear skin defects on the face and neck in females and in utero lethality in males that has_material_basis_in heterozygous or hemizygous mutation in HCCS on chromosome Xp22.2. (DO)
linear skin defects with multiple congenital anomalies 2  
linear skin defects with multiple congenital anomalies 3  
Lisch epithelial corneal dystrophy 
Nance-Horan syndrome  
neurodegeneration with brain iron accumulation 5  
non-syndromic X-linked intellectual disability 1  
non-syndromic X-linked intellectual disability 107  
non-syndromic X-linked intellectual disability 19  
non-syndromic X-linked intellectual disability 2 
non-syndromic X-linked intellectual disability 41  
non-syndromic X-linked intellectual disability 63  
non-syndromic X-linked intellectual disability 89  
non-syndromic X-linked intellectual disability 91  
non-syndromic X-linked intellectual disability 98  
nonphotosensitive trichothiodystrophy 5  
orofaciodigital syndrome I  
otopalatodigital syndrome type 1  
otopalatodigital syndrome type 2  
Raynaud-Claes syndrome  
reducing body myopathy 1A  
syndromic microphthalmia 1  
syndromic microphthalmia 10 
syndromic microphthalmia 11  
syndromic microphthalmia 12  
syndromic microphthalmia 13  
syndromic microphthalmia 14  
syndromic microphthalmia 2  
syndromic microphthalmia 3  
syndromic microphthalmia 5  
syndromic microphthalmia 6  
syndromic microphthalmia 8  
syndromic microphthalmia 9  
X-linked Alport syndrome  
X-linked chondrodysplasia punctata 2  
X-linked dominant hypophosphatemic rickets  
X-linked endothelial corneal dystrophy 

Synonyms
Exact Synonyms: LSDMCA1 ;   MCOPS7 ;   Midas syndrome ;   microphthalmia with linear skin lesions syndrome ;   microphthalmia, dermal aplasia, and sclerocornea ;   microphthalmia-dermal aplasia-sclerocornea syndrome ;   syndromic microphthalmia 7 ;   syndromic microphthalmia type 7
Primary IDs: MESH:C537466
Alternate IDs: OMIM:309801
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/17033964 "DO"

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.