Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
2
|
0.970 |
None |
1.000 |
9 |
2
|
2000 |
2018 |
Multiple Hemangioblastomas
|
disease |
Neoplasms
|
Neoplastic Process
|
2
|
|
0.300 |
None |
1.000 |
1 |
|
2004 |
2004 |
PANCREATIC AND CEREBELLAR AGENESIS
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Disease or Syndrome
|
2
|
1
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Invasive non-typhoidal salmonellosis
|
disease |
Infections
|
Disease or Syndrome
|
3
|
2
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Nevus, Intradermal
|
disease |
Neoplasms
|
Neoplastic Process
|
4
|
1
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Secondary malignant neoplasm of prostate
|
disease |
Neoplasms; Male Urogenital Diseases
|
Neoplastic Process
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Talipes cavus equinovarus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Anatomical Abnormality
|
4
|
1
|
0.100 |
None |
|
0 |
|
|
|
Oropharyngeal Neoplasms
|
group |
Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
Neoplastic Process
|
8
|
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Abnormal auditory evoked potential
|
phenotype |
|
Finding
|
11
|
2
|
0.100 |
None |
|
0 |
|
|
|
Charcot-Marie-Tooth disease type 4
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
14
|
77
|
0.100 |
None |
1.000 |
2 |
2
|
2003 |
2013 |
Central Neurocytoma
|
disease |
Neoplasms; Nervous System Diseases
|
Neoplastic Process
|
16
|
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Axonal loss
|
phenotype |
|
Finding
|
16
|
|
0.100 |
None |
|
0 |
|
|
|
Biliary papillomatosis
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
20
|
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Hypertrophic neuropathy of infancy
|
disease |
|
Disease or Syndrome
|
21
|
|
0.200 |
None |
1.000 |
2 |
|
2004 |
2011 |
Hereditary motor and sensory neuropathy, types I-IV
|
disease |
|
Disease or Syndrome
|
21
|
|
0.200 |
None |
1.000 |
2 |
|
2004 |
2011 |
Peroneal muscular atrophy (axonal type) (hypertrophic type)
|
disease |
|
Disease or Syndrome
|
21
|
|
0.200 |
None |
1.000 |
2 |
|
2004 |
2011 |
Segmental peripheral demyelination/remyelination
|
phenotype |
|
Finding
|
21
|
|
0.100 |
None |
|
0 |
|
|
|
Poikiloderma with Neutropenia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
25
|
24
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Roussy-Levy Syndrome (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
26
|
5
|
0.200 |
None |
1.000 |
2 |
|
2004 |
2011 |
Intracranial Astrocytoma
|
disease |
Neoplasms
|
Neoplastic Process
|
26
|
|
0.300 |
None |
1.000 |
1 |
|
2004 |
2004 |
Childhood Cerebral Astrocytoma
|
disease |
Neoplasms
|
Neoplastic Process
|
28
|
|
0.300 |
None |
1.000 |
1 |
|
2004 |
2004 |
Neuroepithelioma
|
disease |
|
Neoplastic Process
|
28
|
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Onion bulb formation
|
phenotype |
|
Finding
|
28
|
1
|
0.100 |
None |
|
0 |
|
|
|
Protoplasmic astrocytoma
|
disease |
Neoplasms
|
Neoplastic Process
|
29
|
|
0.300 |
None |
1.000 |
1 |
|
2004 |
2004 |