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1.

Schopf-Schulz-Passarge syndrome

MedGen UID:
347366
Concept ID:
C1857069
Disease or Syndrome
2.

Cyst

Any fluid-filled closed cavity or sac that is lined by an EPITHELIUM. Cysts can be of normal, abnormal, non-neoplastic, or neoplastic tissues. [from MeSH]

MedGen UID:
41396
Concept ID:
C0010709
Disease or Syndrome
3.

Syndrome

A set of symptoms or conditions that occur together and suggest the presence of a certain disease or an increased chance of developing the disease. [from NCI_NCI-GLOSS]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
4.

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
Disease or Syndrome
5.

Hyperhidrosis

Abnormal excessive perspiration (sweating). [from HPO]

MedGen UID:
5690
Concept ID:
C0020458
Finding
6.

Oligodontia

MedGen UID:
904670
Concept ID:
C4082304
Congenital Abnormality
7.

Oligodontia

Oligodontia is a rare developmental dental anomaly in humans characterized by the absence of six or more teeth. [from ORDO]

MedGen UID:
831110
Concept ID:
CN207376
Finding
8.

Odonto-onycho-dermal dysplasia

MedGen UID:
698381
Concept ID:
C1275074
Congenital Abnormality
9.

Dystrophy

a degenerative disorder [from CHV]

MedGen UID:
569248
Concept ID:
C0333606
Pathologic Function
10.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
11.

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:
504666
Concept ID:
CN000906
Finding
12.

Oligodontia

A developmental anomaly characterized by a reduced number of teeth, whereby more than 6 teeth are missing. [from HPO]

MedGen UID:
504552
Concept ID:
CN000637
Finding
13.

Palmoplantar hyperkeratosis

Hyperkeratosis affecting the palm of the hand and the sole of the foot. [from HPO]

MedGen UID:
500897
Concept ID:
CN000910
Finding
14.

Hyperkeratosis

Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum. [from HPO]

MedGen UID:
209030
Concept ID:
C0870082
Disease or Syndrome
15.

Odontoonychodermal dysplasia

A form of ectodermal dysplasia with hyperhidrosis, hyperkeratosis palmaris et plantaris, nail dystrophy, dry and sparse hair, facial erythema, peg-shaped incisors. and malformation of other teeth. Mild mental deficiency was reported in some cases. This condition is considered by some a specific form of a broad category of disorders involving dysplasia of skin appendages and teeth. [from MCA/MR]

MedGen UID:
208666
Concept ID:
C0796093
Disease or Syndrome
16.

Autosomal recessive inheritance

A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). [from HPO]

MedGen UID:
141025
Concept ID:
C0441748
Genetic Function; Intellectual Product
17.

Severe

Having a high degree of severity. For quantitative traits, a deviation of between four and five standard deviations from the appropriate population mean. [from HPO]

MedGen UID:
104640
Concept ID:
C0205082
Qualitative Concept
18.

Unrelated

Not connected or associated e.g. by kinship. [from NCI]

MedGen UID:
99027
Concept ID:
C0445356
Finding
19.

Dysplasia

A usually neoplastic transformation of the cell, associated with altered architectural tissue patterns. The cellular changes include nuclear and cytoplasmic abnormalities. Molecular genetic abnormalities are also often found and, in some instances, may lead to cancer. [from NCI]

MedGen UID:
87191
Concept ID:
C0334044
Pathologic Function
20.

Nail dystrophy

Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate. [from HPO]

MedGen UID:
66368
Concept ID:
C0221260
Disease or Syndrome
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