Db	Link	Name	Definition	Comment	Is a
OMIM	OMIM:617743	OOCYTE MATURATION DEFECT 4; OOMD4	—	—	—
OMIM	OMIM:617744	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA; IMDDHH	—	—	—
OMIM	OMIM:617746	SWEENEY-COX SYNDROME; SWCOS	—	—	—
OMIM	OMIM:617749	ACTN3 DEFICIENCY	—	—	—
OMIM	OMIM:617751	MENTAL RETARDATION, AUTOSOMAL DOMINANT 48; MRD48	—	—	—
OMIM	OMIM:617752	MENTAL RETARDATION, AUTOSOMAL DOMINANT 49; MRD49	—	—	—
OMIM	OMIM:617755	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL	—	—	—
OMIM	OMIM:617756	ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 5; EKVP5	—	—	—
OMIM	OMIM:617757	JOUBERT SYNDROME 32; JBTS32	—	—	—
OMIM	OMIM:617760	MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION; CNM6	—	—	—
OMIM	OMIM:617761	JOUBERT SYNDROME 31; JBTS31	—	—	—
OMIM	OMIM:617762	LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET; PLDECO	—	—	—
OMIM	OMIM:617763	SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES; SHRF	—	—	—
OMIM	OMIM:617765	IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14	—	—	—
OMIM	OMIM:617767	JOUBERT SYNDROME 33; JBTS33	—	—	—
OMIM	OMIM:617768	KLEEFSTRA SYNDROME 2; KLEFS2	—	—	—
OMIM	OMIM:617769	SPINOCEREBELLAR ATAXIA 45; SCA45	—	—	—
OMIM	OMIM:617770	SPINOCEREBELLAR ATAXIA 46; SCA46	—	—	—
OMIM	OMIM:617771	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 57; EIEE57	—	—	—
OMIM	OMIM:617772	DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION; DFNA34	—	—	—
OMIM	OMIM:617773	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61; MRT61	—	—	—
OMIM	OMIM:617780	COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA; CIMAH	—	—	—
OMIM	OMIM:617781	RETINITIS PIGMENTOSA 80; RP80	—	—	—
OMIM	OMIM:617783	NEPHROTIC SYNDROME, TYPE 16; NPHS16	—	—	—
OMIM	OMIM:617784	FANCONI ANEMIA, COMPLEMENTATION GROUP W; FANCW	—	—	—