Albright's hereditary osteodystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
22
|
|
0.040 |
None |
1.000 |
4 |
|
2001 |
2014 |
HYPERTRICHOSIS, CONGENITAL GENERALIZED
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
25
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Gonadal Dysgenesis, 46,XY
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
29
|
1
|
0.010 |
None |
1.000 |
1 |
1
|
2000 |
2000 |
Pseudohypoparathyroidism, Type Ia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
30
|
20
|
0.070 |
None |
1.000 |
7 |
|
2001 |
2018 |
XX males
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
32
|
|
0.330 |
None |
1.000 |
3 |
|
2011 |
2015 |
Pseudohypoparathyroidism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
34
|
4
|
0.070 |
None |
1.000 |
7 |
|
1978 |
2014 |
Septo-Optic Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
35
|
19
|
0.420 |
None |
1.000 |
4 |
|
2007 |
2014 |
Irido-corneo-trabecular dysgenesis (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
35
|
12
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Cancer of Head
|
disease |
Neoplasms
|
Neoplastic Process
|
35
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Kabuki make-up syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases
|
Congenital Abnormality
|
37
|
253
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Amenorrhea
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
37
|
2
|
0.100 |
None |
|
0 |
|
|
|
Malignant melanoma of eye
|
disease |
Neoplasms; Eye Diseases
|
Neoplastic Process
|
38
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Anosmia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
40
|
4
|
0.100 |
None |
|
0 |
|
|
|
Pituitary dwarfism
|
disease |
Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
41
|
12
|
0.150 |
None |
1.000 |
5 |
1
|
2014 |
2018 |
Neonatal diabetes mellitus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
42
|
33
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Absence of secondary sex characteristics
|
phenotype |
|
Finding
|
44
|
|
0.100 |
None |
|
0 |
|
|
|
Secondary hypothyroidism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
47
|
2
|
0.100 |
None |
|
0 |
|
|
|
Non-Neoplastic Disorder
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
50
|
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Testicular hypogonadism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
50
|
1
|
0.100 |
None |
|
0 |
|
|
|
metastatic intraocular melanoma
|
disease |
Neoplasms; Eye Diseases
|
Neoplastic Process
|
53
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Diabetes Insipidus
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
57
|
3
|
0.100 |
None |
|
0 |
|
|
|
Hemophilia B
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
59
|
125
|
0.010 |
None |
1.000 |
1 |
|
1993 |
1993 |
Esophageal Atresia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Congenital Abnormality
|
59
|
6
|
0.100 |
None |
|
0 |
|
|
|
Cerebellar degeneration
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
60
|
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
Polydipsia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
61
|
5
|
0.100 |
None |
|
0 |
|
|
|