C4749147 |
NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL DOMINANT
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disease |
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Disease or Syndrome
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genetic disease; disease of anatomical entity
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1 |
C4748435 |
ISOLATED GROWTH HORMONE DEFICIENCY, TYPE V
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disease |
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Disease or Syndrome
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disease of anatomical entity
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1 |
C4747737 |
RETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS
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disease |
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Disease or Syndrome
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genetic disease; disease of anatomical entity
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1 |
C4747658 |
SHORT-RIB THORACIC DYSPLASIA 7/20 WITH POLYDACTYLY, DIGENIC
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disease |
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Disease or Syndrome
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genetic disease
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1 |
C4746986 |
ALPORT SYNDROME 1, X-LINKED
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disease |
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Disease or Syndrome
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genetic disease
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1 |
C4746745 |
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
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disease |
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Disease or Syndrome
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genetic disease
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3 |
C4721890 |
CATARACT 2, MULTIPLE TYPES
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disease |
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Disease or Syndrome
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genetic disease; disease of anatomical entity
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2 |
C4721887 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
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disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
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Disease or Syndrome
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genetic disease; disease of anatomical entity
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|
1 |
C4721437 |
Charcot-Marie-Tooth disease, Type 4E
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disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
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Disease or Syndrome
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genetic disease; disease of anatomical entity
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|
1 |
C4721436 |
NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE
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disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
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Disease or Syndrome
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genetic disease; disease of anatomical entity
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|
1 |
C4707825 |
X-linked cleft palate and ankyloglossia
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disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
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Congenital Abnormality
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genetic disease; syndrome; physical disorder
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1 |
C4693974 |
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC
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disease |
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Disease or Syndrome
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genetic disease; disease of metabolism
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|
1 |
C4692564 |
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
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disease |
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Disease or Syndrome
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genetic disease; disease of metabolism
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|
2 |
C4552089 |
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1, WITH BARTTER SYNDROME
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disease |
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Disease or Syndrome
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genetic disease; disease of metabolism
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|
1 |
C4552043 |
Cortical dysplasia with focal epilepsy syndrome
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disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
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Disease or Syndrome
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genetic disease; disease of anatomical entity
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|
1 |
C4552030 |
Ciliary Dyskinesia, Primary, 7, With Or Without Situs Inversus
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disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases
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Disease or Syndrome
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genetic disease; syndrome
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|
1 |
C4551998 |
Porencephaly, Type 1, Autosomal Dominant
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disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
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Disease or Syndrome
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genetic disease; disease of anatomical entity
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|
1 |
C4551992 |
ANTERIOR SEGMENT DYSGENESIS 1
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disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
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Disease or Syndrome
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genetic disease; disease of anatomical entity
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2 |
C4551977 |
Microphthalmos, Autosomal Recessive
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disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
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Disease or Syndrome
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genetic disease; disease of anatomical entity
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|
1 |
C4551971 |
Albers-Schonberg Disease, Autosomal Recessive
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disease |
Musculoskeletal Diseases
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Disease or Syndrome
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genetic disease; disease of anatomical entity
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2 |
C4551957 |
Epilepsy, Familial Temporal Lobe 1
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disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
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Disease or Syndrome
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genetic disease; disease of anatomical entity
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|
1 |
C4551906 |
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
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disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases
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Disease or Syndrome
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genetic disease; syndrome
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|
1 |
C4551895 |
Familial Cold Autoinflammatory Syndrome 1
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disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
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Disease or Syndrome
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genetic disease; disease of anatomical entity
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|
1 |
C4551856 |
Asphyxiating Thoracic Dystrophy 1
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disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
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Disease or Syndrome; Congenital Abnormality
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genetic disease
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1 |
C4551826 |
Symphalangism-brachydactyly syndrome
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disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
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Disease or Syndrome
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disease of anatomical entity
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2 |