Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
definitive |
1.000 |
8 |
|
2003 |
2018 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.140 |
None |
1.000 |
4 |
|
2011 |
2020 |
Leukopenia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
440
|
153
|
0.130 |
None |
0.667 |
3 |
|
2010 |
2016 |
Neutropenia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
389
|
97
|
0.130 |
None |
0.667 |
3 |
|
2010 |
2016 |
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.130 |
None |
1.000 |
3 |
|
2010 |
2016 |
Autism Spectrum Disorders
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1071
|
331
|
0.020 |
None |
1.000 |
2 |
|
2013 |
2019 |
Onychomycosis
|
disease |
Infections; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
27
|
2
|
0.020 |
None |
1.000 |
2 |
|
2007 |
2012 |
Micrognathism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
586
|
53
|
0.110 |
None |
1.000 |
1 |
|
2018 |
2018 |
Lymphohistiocytosis, Hemophagocytic
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
117
|
13
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
leukemia
|
disease |
Neoplasms
|
Neoplastic Process
|
2111
|
144
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Mental Retardation
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
505
|
98
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Childhood Leukemia
|
disease |
Neoplasms
|
Neoplastic Process
|
1740
|
140
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Severe congenital neutropenia
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
66
|
26
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Neurodevelopmental Disorders
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
535
|
14
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Familial (FPAH)
|
disease |
|
Disease or Syndrome
|
1075
|
276
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Chorioretinal dystrophy
|
disease |
Eye Diseases
|
Disease or Syndrome
|
7
|
|
0.110 |
None |
< 0.001 |
1 |
|
2010 |
2010 |
Trichohepatoenteric Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
424
|
28
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Small cell carcinoma of lung
|
disease |
Neoplasms; Respiratory Tract Diseases
|
Neoplastic Process
|
972
|
125
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Osteoporosis
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
1098
|
182
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Retinal Diseases
|
group |
Eye Diseases
|
Disease or Syndrome
|
714
|
56
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Laryngomalacia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
67
|
18
|
0.110 |
None |
1.000 |
1 |
|
2018 |
2018 |
Mental impairment
|
disease |
|
Mental or Behavioral Dysfunction
|
67
|
14
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Sensorineural Hearing Loss (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
783
|
111
|
0.110 |
None |
1.000 |
1 |
|
2009 |
2009 |
Oligospermia
|
disease |
Male Urogenital Diseases
|
Disease or Syndrome
|
217
|
72
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Developmental Disabilities
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
355
|
19
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |