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Items: 8

1.

Abnormal cochlea morphology

An abnormality of the cochlea. [from HPO]

MedGen UID:
871363
Concept ID:
C4025858
Anatomical Abnormality
2.

Abnormality of hair pigmentation

An abnormality of hair pigmentation (color). [from HPO]

MedGen UID:
869743
Concept ID:
C4024172
Finding
3.

Abnormal blood cation concentration

An abnormality of cation homeostasis. [from HPO]

MedGen UID:
869223
Concept ID:
C4023646
Finding
4.

Abnormal inner ear morphology

A structural anomaly of the internal part of the ear. [from HPO]

MedGen UID:
868967
Concept ID:
C4023381
Anatomical Abnormality
5.

Aplasia of the inner ear

Absence of the inner ear due to a developmental defect. [from HPO]

MedGen UID:
540032
Concept ID:
C0266604
Congenital Abnormality
6.

Focal labyrinthitis

A labyrinthitis which is an infectious inflammatory disease of a circumscribed area of either the vestibular or the cochlear portion of the labyrinth, or of both together. This is caused by a chronic suppurative otitis media, mastoiditis, or cholesteatoma. [from MONDO]

MedGen UID:
509994
Concept ID:
C0155505
Disease or Syndrome
7.

Hypoplasia of the cochlea

Developmental hypoplasia of the cochlea. [from HPO]

MedGen UID:
436824
Concept ID:
C2676974
Finding
8.

Autosomal recessive nonsyndromic hearing loss 36

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ESPN gene. [from MONDO]

MedGen UID:
324662
Concept ID:
C1837007
Disease or Syndrome
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