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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Acanthosis Nigricans (D000052)
Parent Node: Craniofacial Dysostosis (D003394)
..Starting node ..Crouzon Syndrome With Acanthosis Nigricans (C567382)
Child Nodes:
Sister Nodes:
..Bazopoulou Kyrkanidou syndrome (C537664)
..Cote Katsantoni syndrome (C536449)
..Craniofacial Dysostosis with Diaphyseal Hyperplasia (C562974)
..Craniometaphyseal dysplasia, autosomal recessive type (C536570)
..Crouzon Syndrome With Acanthosis Nigricans (C567382)
..Freeman-Sheldon syndrome (C535483)
..Hallermann's Syndrome (D006210) 1
..Hypertelorism (D006972) 32
..Hypomandibular faciocranial dysostosis (C537154)
..Kaplan Plauchu Fitch syndrome (C536892)
..Mandibulofacial Dysostosis (D008342) 20
..Maxillofacial Dysostosis (C563599)
..Oculomaxillofacial dysostosis (C537736)
..Tricho-dento-osseous syndrome 1 (C536550)
..Whistling face syndrome, recessive form (C536699)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

2867

Name:

Crouzon Syndrome With Acanthosis Nigricans

Definition:

Alternative IDs:

OMIM:612247

ParentIDs:

MESH:D000052|MESH:D003394

TreeNumbers:

C05.116.099.370.231/C567382 |C05.660.207.231/C567382 |C16.131.621.207.231/C567382 |C17.800.621.430.530.100/C567382

Synonyms:

CAN |Crouzonodermoskeletal Syndrome

Slim Mappings:

Congenital abnormality|Musculoskeletal disease|Skin disease

Reference:

MedGen: C567382
MeSH: C567382
OMIM: 612247;

Genes: FGFR3;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000956	Acanthosis nigricans
3	HP:0000248	Brachycephaly
4	HP:0000453	Choanal atresia
5	HP:0001363	Craniosynostosis
6	HP:0000238	Hydrocephalus	HP:0040283
7	HP:0000316	Hypertelorism
8	HP:0000995	Melanocytic nevus
9	HP:0011800	Midface retrusion
10	HP:0000520	Proptosis

Disease Causing ClinVar Variants