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Items: 13

1.

Arachnoid cyst

An extra-parenchymal and intra-arachnoidal collection of fluid with a composition similar to that of cerebrospinal fluid. [from HPO]

MedGen UID:
506519
Concept ID:
CN117593
Finding
2.

Arachnoid cyst

Intracranial or spinal cavities containing a cerebrospinal-like fluid, the wall of which is composed of arachnoidal cells. They are most often developmental or related to trauma. Intracranial arachnoid cysts usually occur adjacent to arachnoidal cistern and may present with HYDROCEPHALUS; HEADACHE; SEIZURES; and focal neurologic signs. (From Joynt, Clinical Neurology, 1994, Ch44, pp105-115) [from MeSH]

MedGen UID:
86860
Concept ID:
C0078981
Disease or Syndrome
3.

Epibulbar dermoid

An epibulbar dermoid is a benign tumor typically found at the junction of the cornea and sclera (limbal epibullar dermoid). [from HPO]

MedGen UID:
401267
Concept ID:
C1867616
Finding; Neoplastic Process
4.

Inborn genetic diseases

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
5.

Congenital anomaly of nervous system

An abnormality of the nervous system that is present at birth or detected in the neonatal period. [from NCI]

MedGen UID:
105425
Concept ID:
C0497552
Congenital Abnormality; Disease or Syndrome
6.

Abnormality of the skin

An abnormality of the skin. [from HPO]

MedGen UID:
11449
Concept ID:
C0037268
Disease or Syndrome; Finding
7.

Ectodermal dysplasia

Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands. [from HPO]

MedGen UID:
8544
Concept ID:
C0013575
Congenital Abnormality; Disease or Syndrome
8.

Multiple congenital anomalies

MedGen UID:
7806
Concept ID:
C0000772
Congenital Abnormality
9.

Congenital anomaly of eye

Congenital absence of or defects in structures of the eye; may also be hereditary. [from MeSH]

MedGen UID:
4623
Concept ID:
C0015393
Congenital Abnormality; Disease or Syndrome
10.

Epibulbar lipodermoid-preauricular appendage-polythelia syndrome

Epibulbar lipodermoid ? preauricular appendages ? polythelia is a branchial arch syndrome described in seven sibs of one Danish family and characterized by supernumerary nipples (polythelia), preauricular appendages and often binocular epibulbar lipodermoids or unilateral subconjunctival lipodermoids. [from ORDO]

MedGen UID:
832370
Concept ID:
CN226948
Disease or Syndrome
11.

Ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum

MedGen UID:
347363
Concept ID:
C1857053
Disease or Syndrome
12.

Rodrigues blindness

MedGen UID:
340297
Concept ID:
C1849332
Disease or Syndrome
13.

Arachnoid cysts, intracranial

MedGen UID:
148353
Concept ID:
C0751615
Anatomical Abnormality; Disease or Syndrome
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