DEAFNESS, AUTOSOMAL RECESSIVE 84A
disease
Disease or Syndrome
2
3
0.710
strong
1.000
2
2
2010
2010
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
Disease or Syndrome
38
4
0.300
definitive
1.000
8
2003
2015
SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Endocrine System Diseases
Disease or Syndrome
2
3
0.300
None
0
Motor delay
phenotype
Mental Disorders
Finding
384
34
0.100
None
0
Impaired vibration sensation in the lower limbs
phenotype
Finding
39
4
0.100
None
0
1
Vestibular dysfunction
phenotype
Finding
16
0.100
None
0
hearing impairment
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
Disease or Syndrome
740
337
0.100
None
0
1
Congenital pes cavus
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
Congenital Abnormality
19
15
0.100
None
0
1
Clumsiness - motor delay
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
Disease or Syndrome
393
2
0.100
None
0
Gait, Unsteady
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
143
14
0.100
None
0
1
×
CUI:
C0030193
Disease:
Pain
Pain
phenotype
Pathological Conditions, Signs and Symptoms
Sign or Symptom
1554
196
0.100
None
0
1
Flatfoot
phenotype
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Anatomical Abnormality
285
38
0.100
None
0
1
Deafness
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
Finding
62
37
0.100
None
0
2
Progressive inability to walk
phenotype
Finding
10
3
0.100
None
0
1
Congenital sensorineural hearing loss
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
Congenital Abnormality
68
17
0.020
None
1.000
2
2015
2018
Nonsyndromic Deafness
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
Disease or Syndrome
163
66
0.010
None
1.000
1
2010
2010
Prelingual sensorineural hearing impairment
disease
Disease or Syndrome
17
7
0.010
None
1.000
1
2015
2015
Colorectal Carcinoma
disease
Digestive System Diseases; Neoplasms
Neoplastic Process
5473
1962
0.010
None
1.000
1
2014
2014
Familial (FPAH)
disease
Disease or Syndrome
1075
276
0.010
None
1.000
1
2015
2015
Congenital deafness
disease
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases; Otorhinolaryngologic Diseases
Congenital Abnormality
72
11
0.010
None
1.000
1
2015
2015
Malignant neoplasm of colon and/or rectum
disease
Neoplastic Process
3669
502
0.010
None
1.000
1
2014
2014