Few cafe-au-lait spots

Symptom Information:

Symptom ID: HPO:0007429
Synonyms:
Cafe-au-lait spot [Orphanet:23570]
Caf� au lait spot (disorder) [Orphanet:23570]
Cafe-au-Lait Spots [Orphanet:23570]
Cafe au lait spots [Orphanet:23570]
Cafe au lait spots [MedDRA:10006926]
Cafe au lait spots (in some patients) [OMIM:Cafe au lait spots (in some patients)]
Cafe-au-lait spot (in 1/4 patients) [OMIM:Cafe-au-lait spot (in 1/4 patients)]
Cafe-au-lait spots (93%) [OMIM:Cafe-au-lait spots (93%)]
Quality:
Cross references:
HPO:0000957 "Cafe-au-lait spot" [Orphanet:23570]
HPO:0007565 "Multiple cafe-au-lait spots" [Orphanet:23570]
Orphanet:23570 "Cafe-au-lait spot" [Orphanet:23570]
OMIM: "Cafe au lait spots (in some patients)" [OMIM:Cafe au lait spots (in some patients)]
OMIM: "Cafe-au-lait spot (in 1/4 patients)" [OMIM:Cafe-au-lait spot (in 1/4 patients)]
OMIM: "Cafe-au-lait spots (93%)" [OMIM:Cafe-au-lait spots (93%)]
UMLS:C0221263 "Cafe-au-Lait Spots" [Orphanet:23570]
Is a (Direct Parents):
HPO         Cafe-au-lait spot
MedDRA Hyperpigmentation disorders
Orphanet Abnormality of skin pigmentation
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the integument(HPO:0001574)
          Abnormality of the skin(HPO:0000951)
             Generalized abnormality of skin(HPO:0011354)
                Abnormality of skin morphology(HPO:0011121)
                   Abnormality of skin pigmentation(HPO:0001000)
                      Hyperpigmentation of the skin(HPO:0000953)
                         Irregular hyperpigmentation(HPO:0007400)
                            Hypermelanotic macule(HPO:0001034)
                               Cafe-au-lait spot(HPO:0000957)
                                  Few cafe-au-lait spots(HPO:0007429)
             Localized skin lesion(HPO:0011355)
                Hypermelanotic macule(HPO:0001034)
                   Cafe-au-lait spot(HPO:0000957)
                      Few cafe-au-lait spots(HPO:0007429)
MedDRA:
Skin and subcutaneous tissue disorders(MedDRA:10040785)
    Pigmentation disorders(MedDRA:10035023)
       Hyperpigmentation disorders(MedDRA:10020713)
          Few cafe-au-lait spots(HPO:0007429)
Database Frequency: 7 / 7739
Resource:

All diseases associated with this symptom:

17q11 microdeletion syndrome (Orphanet:97685)
17q11.2 microduplication syndrome (Orphanet:139474)
Bloom syndrome (Orphanet:125)
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
NEUROFIBROMATOSIS, TYPE III, MIXED CENTRAL AND PERIPHERAL (OMIM:162260)
SECKEL SYNDROME 2 (OMIM:606744)
Severe congenital hypochromic anemia with ringed sideroblasts (Orphanet:300298)