Display Settings:

Format
Items per page

Send to:

Choose Destination

Results: 10

1.

Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis

SOFT syndrome is characterized by severely short long bones, peculiar facies associated with paucity of hair, and nail anomalies. Growth retardation is evident on prenatal ultrasound as early as the second trimester of pregnancy, and affected individuals reach a final stature consistent with a height age of 6 years to 8 years. Relative macrocephaly is present during early childhood but head circumference is markedly low by adulthood. Psychomotor development is normal. Facial dysmorphism includes a long, triangular face with prominent nose and small ears, and affected individuals have an unusual high-pitched voice. Clinodactyly, brachydactyly, and hypoplastic distal phalanges and fingernails are present in association with postpubertal sparse and short hair. Typical skeletal findings include short and thick long bones with mild irregular metaphyseal changes, short femoral necks, and hypoplastic pelvis and sacrum. All long bones of the hand are short, with major delay of carpal ossification and cone-shaped epiphyses. Vertebral body ossification is also delayed (summary by Sarig et al., 2012). [from OMIM]

MedGen UID:
762199
Concept ID:
C3542022
Disease or Syndrome
2.

Glioblastoma

MedGen UID:
506549
Concept ID:
CN117732
Finding
3.

EGFR-related lung cancer

MedGen UID:
472093
Concept ID:
CN130014
Disease or Syndrome
4.

Acyl-CoA thioester hydrolase, long-chain, 1

MedGen UID:
351308
Concept ID:
C1865144
5.

Neuroepithelial neoplasm

Neoplasms composed of neuroepithelial cells, which have the capacity to differentiate into NEURONS, oligodendrocytes, and ASTROCYTES. The majority of craniospinal tumors are of neuroepithelial origin. (From Dev Biol 1998 Aug 1;200(1):1-5) [from MeSH]

MedGen UID:
60215
Concept ID:
C0206715
Neoplastic Process
6.

Neuroectodermal neoplasm

A tumor of the central or peripheral nervous system. [from NCI]

MedGen UID:
60072
Concept ID:
C0206093
Neoplastic Process
7.

Glioblastoma

a type of brain tumor [from CHV]

MedGen UID:
42228
Concept ID:
C0017636
Neoplastic Process
8.

Nervous tissue neoplasm

Neoplasms composed of nerve tissue. This concept does not refer to neoplasms located in the nervous system or its component nerves. [from MeSH]

MedGen UID:
14324
Concept ID:
C0027665
Neoplastic Process
9.

Neoplasm of brain

A benign or malignant neoplasm that arises from or metastasizes to the brain. [from NCI]

MedGen UID:
14216
Concept ID:
C0006118
Neoplastic Process
10.

Glioma

A general term for many types of tumors of the central nervous system [from CHV]

MedGen UID:
9030
Concept ID:
C0017638
Neoplastic Process

Display Settings:

Format
Items per page

Send to:

Choose Destination

Supplemental Content

Find related data

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...