FRONTOMETAPHYSEAL DYSPLASIA 2
|
disease |
|
Disease or Syndrome
|
1
|
4
|
0.610 |
None |
1.000 |
4 |
4
|
2015 |
2019 |
Forney Robinson Pascoe syndrome
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
1
|
4
|
0.710 |
moderate |
1.000 |
3 |
4
|
2016 |
2018 |
Synostosis of carpals/tarsals
|
disease |
|
Anatomical Abnormality
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Pseudoepiphyses
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Short distal phalanx of hallux
|
disease |
|
Anatomical Abnormality
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Irregular metacarpals
|
disease |
|
Anatomical Abnormality
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Posterior vertebral hypoplasia
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Frontometaphyseal dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
4
|
16
|
0.610 |
moderate |
1.000 |
1 |
|
2016 |
2016 |
Long metacarpals
|
phenotype |
|
Finding
|
4
|
1
|
0.100 |
None |
|
0 |
|
|
|
Failure of eruption of permanent teeth
|
disease |
Stomatognathic Diseases
|
Anatomical Abnormality
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Hypoplasia of muscle
|
phenotype |
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Absent/hypoplastic paranasal sinuses
|
phenotype |
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Short distal phalanx of the thumb
|
phenotype |
|
Finding
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Hereditary Connective Tissue Disorder
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
9
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Stenosis of ureter
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Anatomical Abnormality
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Ulnar deviation of hand
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
12
|
2
|
0.100 |
None |
|
0 |
|
|
|
Stricture of ureter
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Anatomical Abnormality
|
12
|
|
0.100 |
None |
|
0 |
|
|
|
Carpal synostosis
|
disease |
|
Congenital Abnormality
|
15
|
|
0.100 |
None |
|
0 |
|
|
|
Fused cervical vertebrae
|
disease |
|
Congenital Abnormality
|
15
|
2
|
0.100 |
None |
|
0 |
|
|
|
Subglottic stenosis
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
Anatomical Abnormality
|
17
|
2
|
0.100 |
None |
|
0 |
|
|
|
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
|
disease |
|
Disease or Syndrome
|
18
|
10
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT
|
disease |
|
Disease or Syndrome
|
18
|
11
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Tarsal Coalition
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
22
|
1
|
0.100 |
None |
|
0 |
|
|
|
Misalignment of teeth
|
phenotype |
|
Finding
|
22
|
2
|
0.100 |
None |
|
0 |
|
|
|
Synostosis of carpal bones
|
phenotype |
|
Finding
|
23
|
|
0.100 |
None |
|
0 |
|
|
|