Ichthyosis follicularis atrichia photophobia syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases
|
Disease or Syndrome
|
3
|
7
|
0.740 |
None |
1.000 |
8 |
6
|
1997 |
2015 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome; Congenital Abnormality
|
2
|
1
|
0.740 |
strong |
1.000 |
5 |
1
|
2010 |
2016 |
PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES, X-LINKED
|
disease |
|
Disease or Syndrome
|
1
|
1
|
0.700 |
limited |
1.000 |
2 |
1
|
2013 |
2014 |
OSTEOGENESIS IMPERFECTA, TYPE XIX
|
disease |
|
Disease or Syndrome
|
1
|
2
|
0.400 |
None |
1.000 |
1 |
2
|
2016 |
2016 |
Olmsted syndrome
|
disease |
|
Disease or Syndrome
|
5
|
3
|
0.340 |
None |
1.000 |
5 |
|
2013 |
2017 |
Keratosis pilaris decalvans
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
3
|
|
0.340 |
None |
1.000 |
5 |
|
2010 |
2016 |
Pseudopelade
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
23
|
|
0.330 |
strong |
1.000 |
4 |
|
2008 |
2013 |
Scarring alopecia
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
8
|
|
0.330 |
strong |
1.000 |
4 |
|
2008 |
2013 |
Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
1
|
1
|
0.320 |
None |
1.000 |
2 |
1
|
2012 |
2013 |
Polydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
188
|
43
|
0.300 |
limited |
1.000 |
1 |
|
1997 |
1997 |
Liver carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5725
|
942
|
0.300 |
None |
1.000 |
1 |
|
2004 |
2004 |
IFAP SYNDROME
|
phenotype |
|
Finding
|
1
|
|
0.300 |
strong |
|
0 |
|
|
|
Photophobia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Sign or Symptom
|
227
|
7
|
0.200 |
None |
1.000 |
12 |
1
|
2005 |
2019 |
Phrynoderma
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
19
|
3
|
0.130 |
None |
1.000 |
3 |
|
1992 |
2009 |
Keratosis pilaris
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Acquired Abnormality
|
30
|
4
|
0.130 |
None |
1.000 |
3 |
|
2008 |
2012 |
Renal dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
95
|
3
|
0.120 |
None |
1.000 |
2 |
|
1997 |
2014 |
Alopecia
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
491
|
375
|
0.120 |
None |
1.000 |
2 |
|
2010 |
2016 |
Ichthyoses
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
194
|
18
|
0.110 |
None |
1.000 |
1 |
|
2014 |
2014 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.110 |
None |
1.000 |
1 |
|
2012 |
2012 |
Erythema
|
phenotype |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
227
|
8
|
0.110 |
None |
1.000 |
1 |
|
2008 |
2008 |
Folliculitis
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
9
|
|
0.110 |
None |
1.000 |
1 |
|
2008 |
2008 |
Failure to Thrive
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
842
|
10
|
0.110 |
None |
1.000 |
1 |
|
1978 |
1978 |
Keratoderma, Palmoplantar
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
165
|
19
|
0.110 |
None |
1.000 |
1 |
|
2008 |
2008 |
Corneal dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
113
|
25
|
0.110 |
None |
1.000 |
1 |
|
1992 |
1992 |
Ichthyosis follicularis with alopecia and photophobia (IFAP)
|
disease |
|
Disease or Syndrome; Congenital Abnormality
|
2
|
1
|
0.100 |
None |
1.000 |
12 |
1
|
2009 |
2019 |