Warning: The NCBI web site requires JavaScript to function. more...
An official website of the United States government
The .gov means it's official. Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you're on a federal government site.
The site is secure. The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.
#620777 - PULMONARY HYPERTENSION, PRIMARY, 6; PPH6
Gene summaries Genetic tests Medical literature
#620728 - ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1C; UCMD1C
#620727 - ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1B; UCMD1B
ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1A/1B, DIGENIC, INCLUDED; UCMD1A/1B, DIGENIC, INCLUDED
#620726 - BETHLEM MYOPATHY 1C; BTHLM1C
#620725 - BETHLEM MYOPATHY 1B; BTHLM1B
#620707 - EPIDERMOLYTIC HYPERKERATOSIS 2B, AUTOSOMAL RECESSIVE; EHK2B
#620654 - THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES; THC11
#620565 - IMMUNODEFICIENCY 113 WITH AUTOIMMUNITY AND AUTOINFLAMMATION; IMD113
#620540 - DEVELOPMENTAL DELAY WITH OR WITHOUT EPILEPSY; DEVEP
Cytogenetic locations: q#m##
#620538 - SPASTIC PARAPLEGIA 91, AUTOSOMAL DOMINANT, WITH OR WITHOUT CEREBELLAR ATAXIA; SPG91
#620536 - ALPORT SYNDROME 3B, AUTOSOMAL RECESSIVE; ATS3B
Cytogenetic locations: ###x##
#620528 - NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 11; HMND11
Cytogenetic locations: p##;##
#620514 - IMMUNE DYSREGULATION, AUTOIMMUNITY, AND AUTOINFLAMMATION; IDAA
Cytogenetic locations: `#####
*620492 - MEDIATOR COMPLEX SUBUNIT 31; MED31
#620475 - THROMBOCYTOPENIA 8, WITH DYSMORPHIC FEATURES AND DEVELOPMENTAL DELAY; THC8
Cytogenetic locations: ##H###
#620462 - CARDIOMYOPATHY, DILATED, 2I; CMD2I
Cytogenetic locations: Elovl2
#620411 - PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, 2; EPPK2
Cytogenetic locations: 611667
#620376 - AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS; SAIDV
Cytogenetic locations: #####
#620369 - CONGENITAL MYOPATHY 22B, SEVERE FETAL; CMYP22B
Cytogenetic locations: ######
#620352 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 31B; DEE31B
Cytogenetic locations: #T@##
Filter your results:
Your browsing activity is empty.
Activity recording is turned off.
Turn recording back on