ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
1
|
14
|
0.710 |
None |
1.000 |
7 |
14
|
1999 |
2019 |
Ankyloblepharon filiforme adnatum
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Endocrine Breast Diseases
|
group |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
2001 |
2001 |
OROFACIAL CLEFT 8
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
1
|
2
|
0.400 |
None |
1.000 |
1 |
2
|
2006 |
2006 |
Vaginal dryness
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Progressive alopecia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Red, cracking, peeling skin at birth
|
phenotype |
|
Finding
|
1
|
|
0.300 |
limited |
|
0 |
|
|
|
Vaginal Dryness, CTCAE 3.0
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Decreased number of sweat glands
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Vaginal Dryness, CTCAE 5.0
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Difficulty passing urine
|
phenotype |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Sign or Symptom
|
2
|
1
|
0.010 |
None |
1.000 |
1 |
1
|
2007 |
2007 |
Pulmonary mucormycosis
|
disease |
Infections
|
Disease or Syndrome
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Transverse vaginal septum
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Chronic irritative conjunctivitis
|
disease |
Eye Diseases
|
Disease or Syndrome
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia of metatarsal bones
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Premature loss of permanent teeth
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Bilateral breast hypoplasia
|
disease |
|
Anatomical Abnormality
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
3-4 finger cutaneous syndactyly
|
disease |
|
Congenital Abnormality
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia of the phalanges of the toes
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the clitoris
|
disease |
|
Anatomical Abnormality
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Cleft lip and alveolus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
4
|
|
0.300 |
None |
1.000 |
2 |
|
2006 |
2011 |
Juvenile and adolescent idiopathic scoliosis
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
4
|
|
0.020 |
None |
1.000 |
2 |
|
2012 |
2014 |
Giant Cell Granuloma
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Stomatognathic Diseases
|
Pathologic Function
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Sweat Gland Neoplasms
|
group |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
4
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Verruca plana
|
disease |
Infections; Skin and Connective Tissue Diseases
|
Acquired Abnormality
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |