Version 4.0.200811

Pathology name	No. of McKusick	No. of cells
achondrogenesis I *200600	OMIM record	1
acyl-CoA dehydrogenase, long-chain, deficiency *201460	OMIM record	4
acyl-CoA dehydrogenase, medium-chain, deficiency *201450	OMIM record	1
acyl-CoA dehydrogenase, short-chain, deficiency *201470	OMIM record	1
adenosine deaminase *102700	OMIM record	1
adrenal gland tumor	OMIM Home	1
adrenal hyperplasia III *201910	OMIM record	1
adrenoleukodystrophy / addison disease and cerebral sclerosis *300100	OMIM record	7
Aicardi syndrome / corpus callosum *304050	OMIM record	2
Alagille syndrome #118450	OMIM record	1
Aldrich syndrome 277970	OMIM record	1
Alexander disease *203450	OMIM record	1
alkaptonuria *203500	OMIM record	1
amaurotic family idiocy, juvenile type/neuronal ceroid lipofuscinosis *204200	OMIM record	1
amaurotic family idiocy, late infantile type/NCL late infantile *204500	OMIM record	8
amyloidosis	OMIM Home	3
anencephaly *206500	OMIM record	6
Angelman syndrome #105830	OMIM record	2
angiokeratoma, diffuse / Fabry disease *301500	OMIM record	5
Apert syndrome #101200	OMIM record	1
argininosuccinicaciduria *207900	OMIM record	2
arsa pseudodeficiency	OMIM Home	5
arteriosclerosis	OMIM Home	1
arthrogryposis multiplex congenita 108110	OMIM record	2
articular hypermobility syndrome *147900	OMIM record	2
aspartylglycosaminuria *208400	OMIM record	3
asymptomatic galactosemia	OMIM Home	1
ataxia telangiectasia *208900	OMIM record	2
Austin *272200	OMIM record	1
autoimmune polyendocrinopathy syndrome,type I *240300	OMIM record	1

Pathology name	No. of McKusick	No. of cells
B/D translocation	OMIM Home	2
B1 variant - GM2 gangliosidosis / Tay-Sachs disease *272800	OMIM record	6
balanced chromosome translocation	OMIM Home	18
Bardet-Biedl syndrome *209900	OMIM record	1
basal cell nevus syndrome #109400	OMIM record	1
Beckwith-Wiedemann syndrome #130650	OMIM record	2
Berardinelli syndrome /seip syndrome *269700	OMIM record	2

Pathology name	No. of McKusick	No. of cells
camptomelic dwarfism *211970	OMIM record	4
carboydrate deficient glycoprotein syndrome, type I #212065	OMIM record	2
Charcot-Marie-Tooth disease #118200	OMIM record	5
chondrodysplasia	OMIM Home	2
chondrodysplasia punctata #215100	OMIM record	1
chromosome aberration	OMIM Home	28
chromosome mosaic	OMIM Home	2
chronic Hepatitis C	OMIM Home	1
citrullinemia *215700	OMIM record	2
Cockayne syndrome #216400	OMIM record	5
Coffin-Lowry syndrome *303600	OMIM record	1
COFS syndrome / cerebrooculofacioskeletal syndrome 214150	OMIM record	1
collagen disease	OMIM Home	1
complex IV,mitocondrial respiratory chain,deficiency of #220110	OMIM record	4
congenital undergrowth of left leg	OMIM Home	1
corpus callosum agenesis *218000	OMIM record	1
Costello syndrome *218040	OMIM record	5
cri du chat syndrome #123450	OMIM record	6
cutaneous hyperlaxity	OMIM Home	2
cutis laxa *123700	OMIM record	2
cutis laxa, recessive, type I *219100	OMIM record	9
cystic fibrosis #219700	OMIM record	6
cystinosis, early-onset or infantile nephropathic type *219800	OMIM record	17

Pathology name	No. of McKusick	No. of cells
D. Becker syndrome	OMIM Home	2
Davidson disease *251850	OMIM record	1
def. PDH complex thiamine responsive *208800	OMIM record	1
diastrophic dysplasia *222600	OMIM record	1
dibasicaminoaciduria II *222700	OMIM record	4
DiGeorge syndrome *188400	OMIM record	1
dimorphism	OMIM Home	1
Down syndrome, mosaic	OMIM Home	20
Dubowitz syndrome *223370	OMIM record	1
Dupuytren contracture *126900	OMIM record	11
dwarfism thanatophoric	OMIM Home	2
dyschromatosis symmetrica hereditaria 127400	OMIM record	4
dyskeratosis	OMIM Home	1
Dyskeratosis congenita *305000	OMIM record	1
dystonia musculorum deformans 2 *224500	OMIM record	2
dystrophy congenital progressive *253800	OMIM record	1

Pathology name	No. of McKusick	No. of cells
early myoclonic encephalopathy	OMIM Home	1
Edwards' syndrome / trisomy 18 601161	OMIM record	26
Ehlers-Danlos syndrome	OMIM Home	41
Ehlers-Danlos syndrome, type I #130000	OMIM record	4
Ehlers-Danlos syndrome, type III 130020	OMIM record	5
Ehlers-Danlos syndrome, type IV, autosomal dominant #130050	OMIM record	7
Ehlers-Danlos syndrome, type V *305200	OMIM record	1
Ehlers-Danlos syndrome, type VI #225400	OMIM record	1
Ehlers-Danlos syndrome, type VII	OMIM Home	1
Ehlers-Danlos syndrome, type VIII *130080	OMIM record	1
Ellis-Van Creveld syndrome *225500	OMIM record	1
encephalomyopaty mitocondrial	OMIM Home	1
encephalopathy	OMIM Home	1
Engelmann disease *131300	OMIM record	1
epidermolysis bullo'sa	OMIM Home	2
epidermolysis bullo'sa dystrophica, recessive	OMIM Home	1
epilepsy	OMIM Home	1
erythroblastopenia, transient 227050	OMIM record	1
exostoses *133700	OMIM record	1

Pathology name	No. of McKusick	No. of cells
factor XIII deficiency 228500	OMIM record	1
familial dolichocephaly	OMIM Home	1
familial epylepsy	OMIM Home	12
Fanconi anemia	OMIM Home	15
Fanconi anemia, type I *227650	OMIM record	1
Fanconi-Bickel syndrome #227810	OMIM record	2
Farber lipogranulomatosis *228000	OMIM record	2
fibrodysplasia ossificans progressiva *135100	OMIM record	3
fibromatosis, juvenile hyaline *228600	OMIM record	1
Freeman-Sheldon syndrome *193700	OMIM record	2
frontometaphyseal dysplasia *305620	OMIM record	1
fructose intolerance, hereditary *229600	OMIM record	2
fructose-1, 6-diphosphatase deficiency *229700	OMIM record	1
fucosidosis *230000	OMIM record	14

Pathology name	No. of McKusick	No. of cells
galactose epimerase deficiency *230350	OMIM record	1
galactosemia *230400	OMIM record	9
gangliosidosis, generalized GM1, type I *230500	OMIM record	40
gangliosidosis, generalized GM1, type II #230600	OMIM record	8
Gardner's syndrome *175100	OMIM record	3
gastroschisis 230750	OMIM record	1
Gaucher disease	OMIM Home	3
Gaucher disease type I *230800	OMIM record	38
Gaucher disease type II #230900	OMIM record	14
Gaucher disease type III #231000	OMIM record	10
geleophysic dwarfism *231050	OMIM record	1
geroderma osteodysplastica *231070	OMIM record	1
Glutaricacidemia I *231670	OMIM record	2
glyceronephosphate o-acyltransferase *602744	OMIM record	1
glycogen storage disease I *232200	OMIM record	1
glycogen storage disease II *232300	OMIM record	29
glycogen storage disease III *232400	OMIM record	7
glycogen storage disease IV *232500	OMIM record	1

Pathology name	No. of McKusick	No. of cells
hair - brain syndrome *234050	OMIM record	2
Hallervorden-Spatz disease *234200	OMIM record	1
hemochromatosis neonatal #231100	OMIM record	1
hereditary emphysema	OMIM Home	1
hermaphroditism true 235600	OMIM record	5
histiocytosis X *235900	OMIM record	1
homocystinuria *236200	OMIM record	6
homocystinuria - megaloblastic anemia *236270	OMIM record	7
Huntington chorea *143100	OMIM record	1
hydrocephalus 236600	OMIM record	2
hydrocephalus, agyria, retinal dysplasia Hard syndrome/Walker-Warburg *236670	OMIM record	1
hyperammonemia due to carbamoylphosphate synthetase deficien. 237300	OMIM record	1
hypercholesterolemia, familial *143890	OMIM record	158
hyperglycerolemia *307030	OMIM record	1
hyperglycinemia, nonketotic #605899	OMIM record	3
hyperlipoproteinemia I *238600	OMIM record	1
hypophosphatasia infantile #241500	OMIM record	1

Pathology name	No. of McKusick	No. of cells
ichthyosis X-linked *308100	OMIM record	2
incontinentia pigmenti *308300	OMIM record	1
infectious mononucleosis	OMIM Home	2
isovalericacidemia *243500	OMIM record	1

Pathology name	No. of McKusick	No. of cells
Jarcho-Levin syndrome *277300	OMIM record	1

Pathology name	No. of McKusick	No. of cells
Kartagener syndrome X *244400	OMIM record	2
Klinefelter syndrome	OMIM Home	7
Klinefelter syndrome, mosaic	OMIM Home	3
Krabbe disease *245200	OMIM record	31

Pathology name	No. of McKusick	No. of cells
Larsen syndrome *245600	OMIM record	3
Laurence-Moon syndrome *245800	OMIM record	3
leprechaunism #246200	OMIM record	1
Lesch-Nyhan syndrome *308000	OMIM record	10
leukoencephalopathy with vanishing white matter *603896	OMIM record	1
Lowe oculocerebrorenal syndrome *309000	OMIM record	1

Pathology name	No. of McKusick	No. of cells
malformations	OMIM Home	1
mannosidosis, alpha b, lysosomal *248500	OMIM record	10
maple syrup urine disease *248600	OMIM record	7
Marek's disease	OMIM Home	1
Marfan syndrome #154700	OMIM record	34
Marinesco-Sjogren syndrome *248800	OMIM record	1
Martin-Bell syndrome *309550	OMIM record	5
McCune-Albright sindrome #174800	OMIM record	1
Meckel syndrome *249000	OMIM record	1
Melnick-Needles syndrome 249420	OMIM record	1
Menkes syndrome #309400	OMIM record	7
metachromatic leukodystrophy #249900	OMIM record	10
metachromatic leukodystrophy, late-infantile *250100	OMIM record	32
metatropic dwarfism, type II #156550	OMIM record	2
methylenetetra-hydrofolate reductase def.	OMIM Home	2
methylmalonicacidemia *251000	OMIM record	12
Miller-Dieker syndrome #247200	OMIM record	2
mitochondrial respiratory chain complex I #252010	OMIM record	1
molybdenum cofactor deficiency #252150	OMIM record	1
mucolipidosis	OMIM Home	1
mucolipidosis II *252500	OMIM record	30
mucolipidosis III *252600	OMIM record	5
mucopolysaccharidosis type I / Hurler disease *252800	OMIM record	51
mucopolysaccharidosis type II *309900	OMIM record	67
mucopolysaccharidosis type III A *252900	OMIM record	35
mucopolysaccharidosis type III B *252920	OMIM record	20
mucopolysaccharidosis type III C *252930	OMIM record	9
mucopolysaccharidosis type III D *252940	OMIM record	3
mucopolysaccharidosis type IV A *253000	OMIM record	19
mucopolysaccharidosis type IV B / Morquio syndrome *253010	OMIM record	7
mucopolysaccharidosis type VI *253200	OMIM record	7
multiple carboxylase deficiency, biotin-responsive *253270	OMIM record	1
multiple carboxylase deficiency, late-onset *253260	OMIM record	1
multiple malformations	OMIM Home	1
muscolar dystrophy def.sarcoglican *253700	OMIM record	1
myopathy with deficiency of CPT I 255120	OMIM record	1

Pathology name	No. of McKusick	No. of cells
nanism	OMIM Home	1
NARP mutation #551500	OMIM record	1
neuraminidase deficiency *256550	OMIM record	9
neuraminidase deficiency with beta-galactosidase deficiency #256540	OMIM record	3
neuroaxonal dystrophy, infantile *256600	OMIM record	1
neurofibromatosis type I *162200	OMIM record	6
neuronal ceroid-lipofuscinosis infantile Finnish type #256730	OMIM record	1
neuropathy, giant axonal *256850	OMIM record	2
Niemann-Pick disease *257200	OMIM record	4
Niemann-Pick disease, type A *257200	OMIM record	30
Niemann-Pick disease, type B *257200	OMIM record	7
Niemann-Pick disease, type C *257220	OMIM record	27

Pathology name	No. of McKusick	No. of cells
omphalocele 164750	OMIM record	1
ornithine-transcarbamylase deficiency *311250	OMIM record	1
osteogenesis imperfecta #166210	OMIM record	20
osteogenesis imperfecta type I (with opalescent teeth) 166240	OMIM record	17
osteogenesis imperfecta, atypical	OMIM Home	1
osteogenesis imperfecta, type I (with blue sclerae) #166200	OMIM record	49
osteogenesis imperfecta, type I neurofibr. #166200	OMIM record	1
osteogenesis imperfecta, type I/EDS, atypical	OMIM Home	2
osteogenesis imperfecta, type II #166210	OMIM record	17
osteogenesis imperfecta, type III with normal sclerae #259420	OMIM record	31
osteogenesis imperfecta, type IV #166220	OMIM record	18
osteopetrosis autosomal recessive #259700	OMIM record	1
osteoporosis-pseudoglioma syndrome *259770	OMIM record	2

Pathology name	No. of McKusick	No. of cells
Pallister Killian syndrome #601803	OMIM record	3
Parkinson disease #168600	OMIM record	1
paroxysmal nocturnal hemoglobinuria +311770	OMIM record	3
partial D trisomy	OMIM Home	1
Patau syndrome / trisomy 13	OMIM Home	12
phenylketonuria I *261600	OMIM record	3
phenylketonuria II *261630	OMIM record	2
photosensitivity	OMIM Home	1
pigmented xerodermoid	OMIM Home	1
poly-X syndrome	OMIM Home	5
porokeratosis of Mibelli *175800	OMIM record	1
porphiria, acute intermittent *176000	OMIM record	1
post-traumatic osteoporosis	OMIM Home	1
Prader-Willi syndrome #176270	OMIM record	1
progeria syndrome #176670	OMIM record	3
prolidase deficiency *170100	OMIM record	6
propionicacidemia I *232000	OMIM record	8
proteolipid protein, myelin *312080	OMIM record	3
Prune Belly syndrome 264140	OMIM record	2
pseudoxanthoma elasticum *264800	OMIM record	25
pulmonary fibrosis, idiopathic 178500	OMIM record	1
pycnodysostosis #265800	OMIM record	2
pyroglutamicaciduria / 5-oxoprolinuria #266130	OMIM record	2
pyruvate dehydrogenase def. *246900	OMIM record	2

Pathology name	No. of McKusick	No. of cells
Roberts syndrome *268300	OMIM record	1

Pathology name	No. of McKusick	No. of cells
salla disease #604369	OMIM record	2
Sandhoff disease *268800	OMIM record	12
SCID (severe combined immunodeficiency 1) *202500	OMIM record	2
scleroderma, familial progressive *181750	OMIM record	23
sensorineural deafness	OMIM Home	1
severe combined immunodeficiency disease *312863	OMIM record	2
Sezary syndrome	OMIM Home	1
Shwachman-Bodian syndrome *260400	OMIM record	1
sialic acid storage disease *269920	OMIM record	2
Sjogren-Larsson syndrome *270200	OMIM record	3
Smith-McCort dwarfism *223800	OMIM record	1
spastic paraparesis 270680	OMIM record	3
spherocytosis, hereditary *182900	OMIM record	1
spinal muscolar atrophy I / Werdnig-Hoffmann disease #253300	OMIM record	8
spinal muscolar atrophy III #253400	OMIM record	1
sponastrime dysplasia 271510	OMIM record	1
spondyloepiphyseal dysplasia, congenital #183900	OMIM record	3
spongy degeneration of central nervous system /Canavan disease *271900	OMIM record	3
Steinert disease #160900	OMIM record	2
sudden infant death syndrome #272120	OMIM record	1
sulfatidosis, juvenile, Austin type *272200	OMIM record	2
SURF1 *185620	OMIM record	3

Pathology name	No. of McKusick	No. of cells
Tay-Sachs disease *272800	OMIM record	29
testicular feminization syndrome *313700	OMIM record	2
tetraphocomelia *274000	OMIM record	1
thalassemia	OMIM Home	10
thanatophoric dwarfism #187600	OMIM record	1
trichothiodystrophy #601675	OMIM record	2
trichotiodystrophy + xeroderma pigmentosum	OMIM Home	9
triglyceride storage disease *275630	OMIM record	2
triplo-X syndrome	OMIM Home	2
triploidy	OMIM Home	5
trisomy 14	OMIM Home	2
trisomy 16	OMIM Home	3
trisomy 21 / Down syndrome #190685	OMIM record	161
trisomy 22	OMIM Home	1
trisomy 4	OMIM Home	1
trisomy 5	OMIM Home	1
trisomy 7	OMIM Home	2
trisomy 9	OMIM Home	1
tuberous sclerosis *191100	OMIM record	9
Turner syndrome, mosaic	OMIM Home	7
Turner syndrome/noonan syndrome 1 *163950	OMIM record	20
tyrosine transaminase deficiency *276600	OMIM record	5

Pathology name	No. of McKusick	No. of cells
Wilson disease *277900	OMIM record	2
Wolff mental retardation syndrome 277990	OMIM record	1
Wolman disease/cholesterol ester storage disease *278000	OMIM record	9

Pathology name	No. of McKusick	No. of cells
X chromosome anomaly	OMIM Home	2
X duplication	OMIM Home	1
xeroderma pigmentosum 194400	OMIM record	21
xeroderma pigmentosum I *278700	OMIM record	3
xeroderma pigmentosum III *278720	OMIM record	7
xeroderma pigmentosum IV #278730	OMIM record	3
xeroderma pigmentosum with normal DNA repair rates 278750	OMIM record	1
xerodermic idiocy of De Sanctis and Cacchione #278800	OMIM record	2

Pathology name	No. of McKusick	No. of cells
YY-syndrome	OMIM Home	3

Pathology name	No. of McKusick	No. of cells
Zellweger syndrome #214100	OMIM record	3