HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
|
disease |
|
Disease or Syndrome
|
1
|
25
|
0.600 |
strong |
1.000 |
10 |
25
|
2004 |
2016 |
Maxillonasal dysplasia, Binder type
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
1991 |
1991 |
4q partial monosomy syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Congenital absence of uterus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Craniopagus
|
disease |
|
Congenital Abnormality
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
1991 |
1991 |
Chromosome 8, trisomy 8q
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
HYPOGONADOTROPHIC HYPOGONADISM 5 WITHOUT ANOSMIA
|
disease |
|
Finding
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Abruzzo Erickson syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
2
|
1
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Trisomy 13 Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
Congenital Abnormality
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
CHOANAL ATRESIA, POSTERIOR
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Severe hearing loss
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Finding
|
2
|
4
|
0.100 |
None |
|
0 |
1
|
|
|
Bilateral choanal atresia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
Anatomical Abnormality
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
Hypoplasia of the semicircular canal
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal soft palate morphology
|
disease |
|
Anatomical Abnormality
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Familial CHARGE Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
4
|
|
0.510 |
None |
1.000 |
9 |
|
2005 |
2015 |
Radial aplasia
|
disease |
|
Disease or Syndrome
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Parathyroid hypoplasia
|
disease |
|
Congenital Abnormality
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Morphological abnormality of the semicircular canal
|
disease |
|
Anatomical Abnormality
|
4
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Bifid femur
|
disease |
|
Anatomical Abnormality
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital facial asymmetry
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
5
|
|
0.020 |
None |
1.000 |
2 |
|
2006 |
2011 |
Congenital anomaly of aortic arch
|
disease |
Respiratory Tract Diseases; Cardiovascular Diseases
|
Congenital Abnormality
|
5
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Bat ear
|
disease |
|
Congenital Abnormality
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal palmar dermatoglyphics
|
disease |
|
Anatomical Abnormality
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital absence of thymus
|
disease |
Immune System Diseases
|
Congenital Abnormality
|
6
|
2
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Kallmann syndrome, type 3, recessive
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
6
|
|
0.300 |
None |
|
0 |
|
|
|