Anhidrosis
disease
Skin and Connective Tissue Diseases
Disease or Syndrome
37
2
0.010
None
1.000
1
2020
2020
Congenital anomaly of face
group
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases
Congenital Abnormality
114
7
0.010
None
1.000
1
2011
2011
Mental impairment
disease
Mental or Behavioral Dysfunction
67
14
0.010
None
1.000
1
2014
2014
Oligospermia
disease
Male Urogenital Diseases
Disease or Syndrome
217
72
0.010
None
1.000
1
2020
2020
Small cell carcinoma of lung
disease
Neoplasms; Respiratory Tract Diseases
Neoplastic Process
972
125
0.010
None
1.000
1
2015
2015
leukemia
disease
Neoplasms
Neoplastic Process
2111
144
0.010
None
1.000
1
2018
2018
Albinism, Oculocutaneous
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
Congenital Abnormality
49
45
0.010
None
1.000
1
3
2015
2015
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
Lymphohistiocytosis, Hemophagocytic
disease
Hemic and Lymphatic Diseases
Disease or Syndrome
117
13
0.010
None
1.000
1
2007
2007
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
Cone-Rod Dystrophy 2
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
Disease or Syndrome
254
51
0.010
None
1.000
1
2013
2013
Retinal Diseases
group
Eye Diseases
Disease or Syndrome
714
56
0.010
None
1.000
1
2014
2014
Osteoporosis
disease
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
Disease or Syndrome
1098
182
0.010
None
1.000
1
2010
2010
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
Impaired cognition
disease
Mental Disorders
Mental or Behavioral Dysfunction
1630
348
0.010
None
1.000
1
2019
2019
Congenital neutropenia
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
Congenital Abnormality
68
11
0.010
None
1.000
1
2014
2014
Diarrhea
phenotype
Pathological Conditions, Signs and Symptoms
Sign or Symptom
632
63
0.010
None
1.000
1
2015
2015
Autistic Disorder
disease
Mental Disorders
Mental or Behavioral Dysfunction
1112
395
0.010
None
1.000
1
2014
2014
Developmental Disabilities
group
Mental Disorders
Mental or Behavioral Dysfunction
355
19
0.010
None
1.000
1
2011
2011
Childhood Leukemia
disease
Neoplasms
Neoplastic Process
1740
140
0.010
None
1.000
1
2018
2018
Cognition Disorders
group
Mental Disorders
Mental or Behavioral Dysfunction
607
47
0.010
None
1.000
1
2019
2019
X-Linked Lymphoproliferative Disorder
disease
Immune System Diseases; Hemic and Lymphatic Diseases
Neoplastic Process
49
10
0.010
None
1.000
1
2007
2007
×
CUI:
C0003578
Disease:
Apnea
Apnea
phenotype
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
Sign or Symptom
262
11
0.010
None
1.000
1
1975
1975
Familial (FPAH)
disease
Disease or Syndrome
1075
276
0.010
None
1.000
1
2016
2016
Developmental delay (disorder)
phenotype
Mental Disorders
Mental or Behavioral Dysfunction
584
68
0.010
None
1.000
1
2020
2020