Panhypopituitarism
|
disease |
Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
73
|
23
|
0.110 |
None |
1.000 |
1 |
|
2014 |
2014 |
Hereditary hemochromatosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
254
|
56
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Myxoid cyst
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
106
|
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases
|
Disease or Syndrome
|
1410
|
80
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
PREMATURE CENTROMERE DIVISION
|
disease |
|
Disease or Syndrome
|
66
|
2
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Rhombencephalosynapsis
|
disease |
|
Disease or Syndrome
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Primary Ciliary Dyskinesia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
160
|
10
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Distal monosomy 13q syndrome
|
disease |
|
Disease or Syndrome
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Asthma
|
disease |
Respiratory Tract Diseases; Immune System Diseases
|
Disease or Syndrome
|
2096
|
1536
|
0.100 |
None |
|
0 |
|
|
|
Fetal Growth Retardation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
|
Disease or Syndrome
|
1037
|
21
|
0.100 |
None |
|
0 |
|
|
|
Hydrocephalus
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
473
|
37
|
0.100 |
None |
|
0 |
|
|
|
Hypothyroidism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
613
|
283
|
0.100 |
None |
|
0 |
|
|
|
Scoliosis, unspecified
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
850
|
135
|
0.100 |
None |
|
0 |
|
|
|
Strabismus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
716
|
89
|
0.100 |
None |
|
0 |
|
|
|
Gestational Diabetes
|
phenotype |
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Disease or Syndrome
|
649
|
224
|
0.100 |
None |
|
0 |
|
|
|
Congenital absence of kidneys syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
110
|
|
0.100 |
None |
|
0 |
|
|
|
HOLOPROSENCEPHALY 2 (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
12
|
0.100 |
None |
|
0 |
1
|
|
|
HOLOPROSENCEPHALY 4 (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
3
|
9
|
0.100 |
None |
|
0 |
1
|
|
|
Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
|
0 |
|
|
|
Upward slant of palpebral fissure
|
phenotype |
|
Finding
|
216
|
16
|
0.100 |
None |
|
0 |
|
|
|
Dysmorphic facies
|
phenotype |
|
Finding
|
271
|
106
|
0.100 |
None |
|
0 |
|
|
|
Orbital separation diminished
|
phenotype |
|
Finding
|
89
|
11
|
0.100 |
None |
|
0 |
|
|
|
Narrow forehead
|
phenotype |
|
Finding
|
106
|
20
|
0.100 |
None |
|
0 |
|
|
|
Tented upper lip vermilion
|
phenotype |
|
Finding
|
79
|
8
|
0.100 |
None |
|
0 |
|
|
|
Anteverted nostril
|
phenotype |
|
Finding
|
407
|
35
|
0.100 |
None |
|
0 |
|
|
|