Tooth Agenesis, Selective, X-Linked, 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Disease or Syndrome
|
1
|
9
|
0.700 |
None |
1.000 |
7 |
9
|
2006 |
2016 |
Hypodontia, X-linked
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Skin peeling/scaling (newborn)
|
phenotype |
|
Finding
|
1
|
|
0.300 |
limited |
|
0 |
|
|
|
Hypoplastic-absent sebaceous glands
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Agenesis of molar
|
disease |
|
Anatomical Abnormality
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Aplasia of the maxilla
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Agenesis of premolar
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplastia of the eccrine sweat glands
|
disease |
|
Anatomical Abnormality
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Ozena (disorder)
|
disease |
Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
1984 |
1984 |
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Diminished sweating
|
phenotype |
Skin and Connective Tissue Diseases; Nervous System Diseases
|
Finding
|
5
|
7
|
0.100 |
None |
|
0 |
1
|
|
|
Periorbital wrinkles
|
phenotype |
|
Finding
|
5
|
1
|
0.100 |
None |
|
0 |
|
|
|
Periorbital hyperpigmentation
|
phenotype |
|
Finding
|
5
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Abnormal oral mucosa morphology
|
disease |
|
Anatomical Abnormality
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital absent nipple
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Absent nipple (finding)
|
phenotype |
|
Finding
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Craniofrontonasal dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
8
|
18
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Ectodermal dysplasia, hypohidrotic, with immune deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases
|
Disease or Syndrome
|
10
|
13
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Agenesis of lateral incisor
|
phenotype |
|
Anatomical Abnormality
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Everted upper lip vermilion
|
phenotype |
|
Finding
|
12
|
|
0.100 |
None |
|
0 |
|
|
|
Koilonychia
|
phenotype |
Skin and Connective Tissue Diseases
|
Sign or Symptom
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Peg-shaped teeth
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
17
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
|
disease |
|
Disease or Syndrome
|
18
|
10
|
0.100 |
None |
0.944 |
18 |
2
|
2005 |
2019 |
ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT
|
disease |
|
Disease or Syndrome
|
18
|
11
|
0.100 |
None |
0.944 |
18 |
2
|
2005 |
2019 |
Congenital hypotrichia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
19
|
4
|
0.120 |
None |
1.000 |
2 |
1
|
2009 |
2019 |