Disease browser and phenotype portal

Hello! Guest! Please Login or Register! Clinician Mode

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: Developmental Disabilities (D002658)
Parent Node: Facies (D019066)
Parent Node: Lipomatosis (D008068)
..Starting node ..Plantar Lipomatosis, Unusual Facies, and Developmental Delay (C566559)
Child Nodes:
Sister Nodes:
..Adiposis Dolorosa (D000274)
..Encephalocraniocutaneous lipomatosis (C535736)
..Hapnes Boman Skeie syndrome (C536960)
..LIPOMATOSIS, MULTIPLE (OMIM:151900)
..Lipomatosis, Multiple Symmetrical (D008069) 1
..Pancreatic lipomatosis duodenal stenosis (C535839)
..Pelvic lipomatosis (C535549)
..Pelvic Lipomatosis with Crossed Renal Ectopia (C566812)
..Plantar Lipomatosis, Unusual Facies, and Developmental Delay (C566559)
..Shwachman syndrome (C537330)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

8980

Name:

Plantar Lipomatosis, Unusual Facies, and Developmental Delay

Definition:

Alternative IDs:

ParentIDs:

MESH:D002658|MESH:D008068|MESH:D019066

TreeNumbers:

C17.800.463/C566559 |C18.452.584.718/C566559 |C23.550.291.812/C566559 |F03.550.362/C566559

Synonyms:

Slim Mappings:

Mental disorder|Metabolic disease|Pathology (process)|Skin disease

Reference:

MedGen: C566559
MeSH: C566559
OMIM: 602342;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000759	Abnormal peripheral nervous system morphology
3	HP:0000248	Brachycephaly
4	HP:0000283	Broad face
5	HP:0001769	Broad foot
6	HP:0001169	Broad palm
7	HP:0000289	Broad philtrum
8	HP:0006191	Deep palmar crease
9	HP:0001869	Deep plantar creases
10	HP:0000490	Deeply set eye
11	HP:0000750	Delayed speech and language development
12	HP:0000232	Everted lower lip vermilion
13	HP:0001508	Failure to thrive	HP:0040283
14	HP:0011968	Feeding difficulties	HP:0040283
15	HP:0000293	Full cheeks
16	HP:0001263	Global developmental delay
17	HP:0009890	High anterior hairline
18	HP:0000348	High forehead
19	HP:0000316	Hypertelorism
20	HP:0001276	Hypertonia	HP:0040283
21	HP:0100853	Hypoplastic areola
22	HP:0002265	Large fleshy ears
23	HP:0011341	Long upper lip
24	HP:0000272	Malar flattening
25	HP:0000252	Microcephaly
26	HP:0000054	Micropenis	HP:0040283
27	HP:0011800	Midface retrusion
28	HP:0000358	Posteriorly rotated ears
29	HP:0002708	Prominent median palatal raphe	HP:0040283
30	HP:0002650	Scoliosis	HP:0040283
31	HP:0001250	Seizure	HP:0040283
32	HP:0001773	Short foot
33	HP:0000470	Short neck
34	HP:0003196	Short nose
35	HP:0004279	Short palm
36	HP:0004322	Short stature
37	HP:0000319	Smooth philtrum
38	HP:0000486	Strabismus	HP:0040283
39	HP:0000506	Telecanthus
40	HP:0007946	Unilateral narrow palpebral fissure
41	HP:0006610	Wide intermamillary distance
42	HP:0000445	Wide nose
43	HP:0000687	Widely spaced teeth

Disease Causing ClinVar Variants