Mondobiotech Holding AG Company presentation
Mondobiotech Holding AG Company presentation
Mondobiotech Holding AG Company presentation
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The human disease network<br />
Goh K-I, Cusick ME, Valle D, Childs B, Vidal M, Barabasi ! A-L (2007) Proc Natl Acad Sci USA 104:8685-8690<br />
Coats<br />
Osteopetrosis<br />
disease<br />
Caffey<br />
Exudative<br />
disease<br />
vitreoretinopathy Norrie<br />
439<br />
disease<br />
Nevo<br />
Hyperostosis,<br />
syndrome<br />
endosteal<br />
217<br />
Oligodontia<br />
Osteogenesis Osteoporosis<br />
Ehlers-Danlos imperfecta<br />
syndrome<br />
Arthropathy<br />
Hypodontia<br />
Myasthenic<br />
733 syndrome<br />
Heart<br />
3-methylglutaconicaciduria<br />
Optic<br />
Marfan<br />
block<br />
atrophy<br />
Aortic syndrome<br />
aneurysm<br />
Intervertebral_disc<br />
Brugada<br />
disease<br />
Glaucoma<br />
syndrome<br />
Cramps,<br />
Cleft<br />
potassium-aggravated Myotonia<br />
palate<br />
congenita<br />
Oculodentodigital<br />
MASS<br />
Hypokalemic<br />
Acquired<br />
dysplasia<br />
long_QT_syndrome<br />
Epiphyseal<br />
Keratitis<br />
Eye<br />
syndrome<br />
periodic<br />
Ectopia<br />
paralysis<br />
dysplasia<br />
Atelosteogenesis<br />
Capillary<br />
Basal_cell<br />
anomalies<br />
Marshall<br />
Larson<br />
Holoprosencephaly<br />
Coloboma,<br />
malformations<br />
Incontinentia<br />
syndrome<br />
syndrome<br />
carcinoma<br />
ocular<br />
pigmenti<br />
26<br />
Aniridia,<br />
Long_QT<br />
Osteoarthritis<br />
Diastrophic<br />
type_II<br />
syndrome<br />
dysplasia<br />
Medulloblastoma<br />
Branchiootic<br />
Morning<br />
Atrioventricular<br />
syndrome<br />
glory<br />
Foveal<br />
Ectodermal<br />
Achondrogenesis_Ib<br />
disc<br />
hypoplasia<br />
block<br />
dysplasia<br />
anomaly<br />
942<br />
126<br />
CPT<br />
Kniest<br />
830<br />
Bart-Pumphrey<br />
Cataract<br />
deficiency,<br />
syndrome Erythrokeratoderma<br />
dysplasia<br />
Iridogoniodysgenesis<br />
hepatic<br />
Iris_hypoplasia<br />
843<br />
OSMED<br />
Enhanced Bothnia<br />
and_glaucoma Axenfeld<br />
Alagille<br />
syndrome<br />
S-cone retinal 1105<br />
1104<br />
anomaly<br />
syndrome<br />
syndromedystrophy<br />
Butterfly<br />
Maculopathy,<br />
845<br />
Atrial<br />
Fechtner<br />
549 dystrophy,<br />
bull’s-eye<br />
retinal<br />
fibrillation<br />
792<br />
May-Hegglin syndrome<br />
anomaly Epstein<br />
Fundus<br />
Epidermolytic<br />
EBD<br />
syndrome<br />
albipunctatus<br />
Miyoshi<br />
hyperkeratosis 396<br />
myopathy<br />
Myopathy<br />
434<br />
Becker<br />
Night<br />
muscular<br />
Duchenne<br />
Deafness<br />
Ichthyosiform<br />
Myotilinopathy<br />
blindness<br />
dystrophy<br />
muscular<br />
erythroderma Ichthyosis<br />
847<br />
Creatine<br />
dystrophy<br />
Epidermolysis<br />
phosphokinase<br />
144<br />
bullosa<br />
Muscular<br />
868<br />
dystrophy<br />
Mohr-Tranebjaerg<br />
Cone<br />
Cardiomyopathy<br />
syndromeJensen<br />
dystrophy<br />
McCune-Albright<br />
syndrome<br />
Dentin<br />
Meniere<br />
syndrome<br />
dysplasia,<br />
GRACILE<br />
Alexander<br />
disease<br />
type_II<br />
syndrome<br />
Convulsions<br />
Menkes<br />
disease<br />
418<br />
disease<br />
Osseous<br />
Enlarged<br />
Leber<br />
heteroplasia<br />
1016<br />
vestibular<br />
congenital_amaurosis<br />
Barth<br />
aqueduct<br />
Occipital_horn<br />
Leigh<br />
syndrome<br />
syndrome<br />
Acromegaly<br />
474<br />
Macular<br />
Cutis<br />
Dejerine-Sottas<br />
syndrome<br />
1113<br />
Hemolytic-uremic<br />
laxa<br />
disease<br />
syndrome<br />
degeneration<br />
Maple_syrup_urine<br />
Achromatopsia<br />
Neuropathy<br />
Factor_x<br />
Hypertriglyceridemia<br />
disease<br />
deficiency<br />
913<br />
Charcot-Marie-Tooth<br />
Leprechaunism<br />
Nephropathy-hypertension<br />
disease<br />
Apolipoprotein<br />
Hypoalphalipoproteinemia<br />
Amyotrophic<br />
594<br />
deficiency<br />
lateral<br />
Lipodystrophy<br />
Hypoglycemia<br />
Hypercholesterolemia<br />
sclerosis<br />
Insulin<br />
117<br />
resistance<br />
Hyperproinsulinemia<br />
Myocardial<br />
Corneal<br />
803<br />
Hyperinsulinism<br />
infarction<br />
dystrophy<br />
275<br />
Amyloidosis<br />
558<br />
Hypobetalipoproteinemia<br />
Diabetes<br />
Coumarin<br />
Amyloid<br />
Lissencephaly<br />
Nicotine<br />
Myeloperoxidase<br />
resistance<br />
mellitus<br />
Dysfibrinogenemia<br />
neuropathy<br />
addiction<br />
Non-Hodgkin<br />
deficiency<br />
Keratoconus<br />
Abetalipoproteinemia<br />
Infantile_spasm<br />
lymphoma<br />
463<br />
Epilepsy<br />
377<br />
syndrome<br />
Hyperproreninemia<br />
Glioblastoma<br />
Afibrinogenemia<br />
MODY<br />
Myoclonic<br />
Myelodysplastic<br />
Hyperlipoproteinemia<br />
epilepsy<br />
syndrome<br />
Hypofibrinogenemia<br />
Coffin-Lowry<br />
Myelogenous<br />
Alzheimer<br />
syndrome<br />
1057<br />
Androgen<br />
leukemia<br />
Autoimmune<br />
Mental<br />
insensitivity<br />
Macrocytic<br />
137<br />
disease<br />
disease<br />
Fanconi-Bickel<br />
Ataxia<br />
anemia<br />
syndrome<br />
Hemorrhagic<br />
retardation<br />
930<br />
diathesis<br />
Gastric<br />
1153<br />
Emphysema<br />
Asperger<br />
Adenoma,<br />
syndrome<br />
Apert 379<br />
cancer<br />
Muir-Torre<br />
periampullary<br />
syndrome 192 Listeria<br />
syndrome<br />
Hypercholanemia<br />
Homocystinuria<br />
monocytogenes<br />
Nonsmall_cell<br />
Desmoid Ataxia-telangiectasia<br />
Obesity<br />
lung_cancer<br />
Cafe-au-lait<br />
198<br />
Autism<br />
disease<br />
spots<br />
Hypertension<br />
Adenomas<br />
Gardner<br />
Allergic<br />
Hyperprolinemia<br />
syndrome<br />
Angelman<br />
809<br />
Jackson-Weiss<br />
rhinitis<br />
syndrome<br />
syndrome<br />
Neuroectodermal<br />
Crouzon<br />
tumors<br />
Leanness,<br />
Atherosclerosis<br />
Aarskog-Scott<br />
Craniosynostosis syndrome<br />
Hepatic<br />
inherited<br />
Liddle<br />
Neutropenia<br />
syndrome<br />
Adenocarcinoma<br />
syndrome<br />
adenoma<br />
Alcohol<br />
Kallmann<br />
dependence<br />
syndrome<br />
Endometrial Breast<br />
Lymphoma<br />
Graft-versus-host<br />
Anorexia<br />
Neurofibrosarcoma<br />
carcinoma<br />
disease<br />
cancer<br />
Asthma<br />
nervosa<br />
Dementia<br />
96<br />
Colon<br />
1096<br />
HIV<br />
182<br />
Hematopoiesis,<br />
Obsessive-compulsive<br />
129<br />
cyclic<br />
422<br />
Lhermitte-Duclos Fanconi<br />
cancer<br />
Neurofibromatosis Neurofibromatosis<br />
Estrogen<br />
IgE_levels<br />
disorder<br />
syndrome anemia<br />
resistance<br />
Li-Fraumeni<br />
QTL<br />
1140<br />
syndrome<br />
Leprosy<br />
Cerebral<br />
Oligodendroglioma<br />
Giant-cell<br />
Migraine<br />
amyloid<br />
fibroblastoma<br />
Meningioma<br />
Muenke<br />
HDL_cholesterol<br />
Cancer<br />
angiopathy<br />
syndrome<br />
level_QTL<br />
susceptibility<br />
Coronary<br />
Hypochondroplasia<br />
Lung<br />
Hirschsprung<br />
artery<br />
Achondroplasia<br />
Denys-Drash<br />
Cervical<br />
cancer<br />
Melanoma<br />
disease<br />
Memory<br />
disease<br />
Mesothelioma<br />
syndrome<br />
Cowden carcinoma<br />
impairment<br />
Mesangial<br />
disease<br />
Nijmegen_breakage<br />
Atopy<br />
Histiocytoma<br />
Malaria<br />
sclerosis<br />
Birt-Hogg-Dube<br />
syndrome<br />
287<br />
Frasier<br />
syndrome Leukemia<br />
Bare_lymphocyte<br />
syndrome<br />
Benzene<br />
syndrome<br />
ABCD<br />
Germ_cell<br />
toxicity<br />
syndrome<br />
378<br />
833<br />
Nasopharyngeal<br />
carcinoma<br />
tumor<br />
Netherton<br />
Neuroblastoma<br />
Bladder<br />
syndrome<br />
cancer<br />
Aquaporin-1<br />
Esophageal<br />
441<br />
deficiency<br />
cancer<br />
Growth<br />
hormone<br />
347<br />
Adult_i<br />
Blood<br />
Orolaryngeal<br />
Leopard Noonan Lipoma<br />
Multiple<br />
phenotype<br />
Carney<br />
cancer<br />
syndrome syndrome<br />
endocrine<br />
Li<br />
group<br />
complex<br />
Loeys-Dietz<br />
neoplasia<br />
Myxoma,<br />
syndrome Fraumeni<br />
Dyserythropoietic<br />
intracardiac<br />
syndrome<br />
anemia<br />
Albinism<br />
Costello<br />
syndrome<br />
Macrothrombocytopenia<br />
Adrenocortical<br />
Anemia<br />
carcinoma Hyperthroidism<br />
959 Mast_cell<br />
leukemia<br />
Hemangioblastoma,<br />
Huntington<br />
Elliptocytosis<br />
Hypothyroidism<br />
cerebellar<br />
disease<br />
Gastrointestinal<br />
Insensitivity<br />
stromal<br />
to_pain<br />
Hemolytic<br />
tumor<br />
Angiofibroma,<br />
anemia<br />
sporadic<br />
Hyperparathyroidism<br />
Goiter<br />
Creutzfeldt-Jakob<br />
Graves<br />
disease Insomnia<br />
Myelofibrosis,<br />
Omenn<br />
disease<br />
idiopathic<br />
Episodic<br />
syndrome<br />
G6PD<br />
ataxia<br />
Gerstmann-Straussler<br />
Favism deficiency<br />
Hemiplegic_migraine, disease<br />
Hyperthyroidism<br />
familial<br />
604<br />
Hypereosinophilic<br />
Hypocalciuric<br />
1056<br />
syndrome<br />
Cerebellar<br />
hypercalcemia<br />
Adenosine_deaminase<br />
Merkel_cell<br />
ataxia<br />
deficiency<br />
Carcinoidcarcinoma<br />
Hypocalcemia<br />
tumors,<br />
intestinal<br />
1164<br />
Urolithiasise<br />
van_Buchem<br />
NDP<br />
disease<br />
SLC34A1<br />
LRP5<br />
COL1A1<br />
PLOD1<br />
PAX9<br />
Aneurysm,<br />
COL3A1<br />
COL1A2<br />
familial_arterial<br />
Witkop<br />
syndrome<br />
OPA3<br />
Pseudoachondroplasia<br />
WISP3<br />
MSX1<br />
OPA1<br />
Paramyotonia<br />
Sick_sinus<br />
congenita<br />
syndrome 3558<br />
SCN4A<br />
Syndactyly<br />
Spondyloepiphyseal COMP<br />
Weill-Marchesani Shprintzen-Goldberg<br />
COL9A2<br />
dysplasia<br />
syndrome<br />
syndrome<br />
SCN5A<br />
Zlotogora-Ogur<br />
2785<br />
syndrome<br />
Parkes_Weber<br />
Basal_cell<br />
FBN1<br />
COL9A3<br />
1432<br />
syndrome<br />
1414<br />
CYP1B1<br />
nevus_syndrome<br />
Peters<br />
FLNB<br />
RASA1<br />
PTCH<br />
anomaly<br />
Thyrotoxic<br />
MATN3<br />
SHH<br />
periodic<br />
KCNH2<br />
PVRL1<br />
paralysis<br />
GJA1<br />
SLC26A2<br />
PTCH2<br />
Wagner<br />
PAX6<br />
IKBKG<br />
syndrome<br />
CACNA1S<br />
Optic_nerve<br />
COL11A1<br />
EYA1<br />
hypoplasia/aplasia<br />
KCNE1<br />
Rieger<br />
LOR<br />
SMED<br />
COL2A1 Strudwick_type<br />
syndrome<br />
PITX2 FOXC1<br />
Ring_dermoid<br />
PITX3<br />
of_cornea<br />
KCNE2<br />
1586 Stickler<br />
syndrome<br />
Vohwinkel<br />
NKX2-5<br />
syndrome<br />
GJB6<br />
RYR1<br />
KCNQ1<br />
Tetralogy<br />
GJB3<br />
CRYAB<br />
CPT2<br />
of_Fallot<br />
GJB2<br />
COL11A2<br />
Central_core<br />
Self-healing<br />
disease<br />
Retinal_cone<br />
collodion_baby<br />
J<strong>AG</strong>1<br />
NR2E3 RLBP1<br />
dsytrophy<br />
KRT10<br />
1518<br />
Macular VMD2<br />
Toenail<br />
Sebastian<br />
dystrophy<br />
dystrophy,<br />
MYH7<br />
MYH9<br />
NRL<br />
RDS<br />
Vitelliform<br />
TGM1<br />
isolated<br />
DYSF<br />
MYH6<br />
syndrome<br />
MYF6<br />
macular<br />
1401<br />
ELOVL4<br />
Stargardt<br />
dystrophy<br />
COL7A1<br />
ABCA4<br />
DES<br />
MYO7A<br />
RHO<br />
Rippling_muscle<br />
disease<br />
KRT1<br />
DSP<br />
disease<br />
DMD<br />
PCDH15<br />
Retinitis<br />
1229<br />
STS<br />
MYOT<br />
PDE6B<br />
EYA4<br />
TIMM8A<br />
CRB1<br />
5233<br />
PLEC1<br />
CDH23<br />
Usher<br />
USH2A<br />
pigmentosa<br />
LAMA3<br />
1545<br />
CAV3<br />
COCH<br />
USH1C<br />
syndrome<br />
CRX<br />
Somatotrophinoma<br />
RYR2<br />
Walker-Warburg FCMD<br />
DSPP<br />
Ventricular<br />
syndrome<br />
TTN<br />
AIPL1<br />
tachycardia<br />
SLC26A4<br />
MASS1<br />
POMT1<br />
GUCY2D<br />
SGCD<br />
PRK<strong>AG</strong>2<br />
RPE65<br />
GNAI2<br />
1232<br />
Wolff-Parkinson-White<br />
GNAS<br />
BCS1L<br />
TCAP<br />
syndrome<br />
Pendred<br />
RPGR<br />
syndrome<br />
RPGRIP1<br />
TAZ<br />
NDUFV1<br />
RP1<br />
Roussy-Levy<br />
COX15<br />
ATP7A<br />
syndrome<br />
SDHA<br />
NDUFS4<br />
FBLN5<br />
Williams-Beuren<br />
Pseudohypoparathyroidism<br />
PMP22<br />
1297<br />
LMNA<br />
PDHA1<br />
CFH<br />
CNGB3<br />
ELN<br />
syndrome<br />
EGR2<br />
Vertical<br />
GCSL<br />
talus<br />
Stroke<br />
Supravalvar_aortic<br />
MPZ<br />
Rabson-Mendenhall<br />
stenosis<br />
HOXD10<br />
syndrome<br />
HSPB1<br />
Pelizaeus-Merzbacher<br />
1396<br />
3212<br />
disease<br />
ALOX5AP F7<br />
PLP1 Spastic_ataxia<br />
DCTN1<br />
/paraplegia<br />
1347<br />
INSR<br />
APOA2<br />
ALS2<br />
GARS<br />
BSCL2<br />
KCNJ11<br />
Primary<br />
HEXB<br />
lateral_sclerosis<br />
APOA1<br />
VAPB<br />
ABCC8<br />
Spinal_muscular<br />
TCF2<br />
atrophy<br />
SARS,<br />
progression_of<br />
APOB<br />
PAFAH1B1<br />
COL8A2<br />
FOXP3<br />
1456<br />
INS<br />
THBD<br />
TTR<br />
VSX1<br />
Squamous_cell<br />
APOE<br />
carcinoma<br />
Sea-blue_histiocyte<br />
FGA<br />
CYP2A6<br />
PPARG<br />
CHRNA4<br />
ACE<br />
DCX<br />
LGI1<br />
GCK<br />
disease<br />
MPO<br />
2385<br />
GABRG2<br />
ACSL6<br />
HNF4A<br />
Renal<br />
FGB<br />
KCNQ2<br />
FAS<br />
IPF1<br />
tubular<br />
APP<br />
CACNB4<br />
REN<br />
SLC6A8<br />
SLC2A2<br />
ARX<br />
dysgenesis<br />
FGG<br />
CASP10<br />
Pancreatic<br />
Thrombophilia<br />
ENPP1<br />
RPS6KA3<br />
agenesis<br />
Perineal<br />
RETN<br />
<strong>AG</strong>TR1 <strong>AG</strong>T<br />
F5<br />
Partington<br />
IRF1<br />
CBS<br />
hypospadias<br />
syndrome<br />
AR<br />
ERBB2 CASP8<br />
HSD11B2<br />
Preeclampsia EPHX1<br />
SERPINA1<br />
NLGN4X<br />
Proud<br />
PTPN22<br />
syndrome<br />
TCF1<br />
Coronary<br />
Thrombocytopenia<br />
Saethre-Chotzen<br />
NOS3<br />
spasms<br />
NLGN3<br />
MECP2<br />
syndrome<br />
Schizophrenia<br />
SOX3<br />
Pfeiffer<br />
1183<br />
Placental<br />
KLF6<br />
ATM<br />
Wiskott-Aldrich<br />
FGD1<br />
Ovarian<br />
MSH2<br />
abruption<br />
PRODH<br />
syndrome<br />
FGFR2<br />
ADRB2<br />
syndrome<br />
CDH1<br />
cancer<br />
MLH1<br />
NR3C2<br />
WAS<br />
Pilomatricoma<br />
Systemic_lupus<br />
PSEN1<br />
PPM-X<br />
BRCA1<br />
APC<br />
Turcot<br />
CTNNB1<br />
erythematosus<br />
SCNN1B<br />
Pseudohypoaldosteronism<br />
syndrome Rett<br />
MUTYH<br />
MAD1L1<br />
syndrome<br />
EGFR<br />
<strong>AG</strong>RP<br />
Pick<br />
syndrome<br />
FGFR1<br />
Rheumatoid<br />
IL13<br />
disease<br />
Seasonal<br />
PIK3CA<br />
Prostate<br />
PMS2<br />
arthritis<br />
affective_disorder<br />
SCNN1G<br />
FCGR3A<br />
RAD54L<br />
RAD54B<br />
HTR2A<br />
MSX2<br />
cancer<br />
T-cell<br />
IL10<br />
ALOX5<br />
MXI1<br />
lymphoblastic<br />
ECE1<br />
ELA2<br />
Parietal<br />
leukemia<br />
Viral<br />
foramina<br />
Supranuclear<br />
infection<br />
1555<br />
BAX<br />
BRAF<br />
palsy<br />
MAPT<br />
PTEN<br />
BRIP1<br />
PDGFRL<br />
PHF11<br />
AXIN2<br />
1174<br />
NF1<br />
PLA2G7<br />
ATP1A2<br />
SLC6A4<br />
BRCA2<br />
1476<br />
MSH6<br />
TNF<br />
EP300<br />
Watson<br />
PDGFB<br />
FGFR3<br />
CHEK2<br />
Rubenstein-Taybi MET syndrome<br />
PARK2<br />
ESR1<br />
Simpson-Golabi-Behmel<br />
Osteosarcoma<br />
Multiple<br />
Platelet<br />
syndrome<br />
SNCA<br />
syndrome<br />
1490<br />
malignancy<br />
RUNX1<br />
defect/deficiency<br />
GPC3<br />
XRCC3<br />
TP53 syndrome BCL10 Sezary<br />
Sepsis<br />
BDNF<br />
ABCA1<br />
SLC22A18<br />
FLCN<br />
syndrome<br />
GDNF<br />
Wilms<br />
CD36<br />
tumor<br />
KRAS<br />
CCND1<br />
Tangier<br />
NF2<br />
Parkinson<br />
EDNRB<br />
disease<br />
CIITA<br />
WT1<br />
NBN<br />
Schwannomatosis Pancreatic<br />
disease<br />
Waardenburg-Shah<br />
Stomach Adrenal_cortical<br />
W<strong>AG</strong>R<br />
1239<br />
EDN3<br />
syndrome<br />
Rhabdomyosarcoma<br />
cancer cancer carcinoma<br />
PCWH<br />
Tietz<br />
syndrome<br />
TGFBR2<br />
SPINK5<br />
PHOX2B<br />
SOX10<br />
Thyroid<br />
NQO1<br />
syndrome<br />
Shah-Waardenburg<br />
BMPR1A carcinoma<br />
STK11<br />
DBH<br />
syndrome<br />
PAX3<br />
Renal_cell<br />
TAP2<br />
1614<br />
RET<br />
SMAD4<br />
Peutz-Jeghers<br />
STAT5B<br />
MITF<br />
syndrome<br />
carcinoma<br />
LPP<br />
Waardenburg<br />
Multiple<br />
Wegener<br />
von_Hippel-Lindau<br />
syndrome<br />
PTPN11<br />
sclerosis<br />
granulomatosis<br />
GYPC<br />
syndrome<br />
Polyposis<br />
GATA1<br />
AQP1<br />
HRAS<br />
3229<br />
PRKAR1A<br />
RB1<br />
CDKN2A<br />
KIT<br />
Medullary_thyroid<br />
TYR<br />
TBP<br />
carcinoma<br />
Pyropoikilocytosis<br />
PTPRC<br />
GCNT2<br />
TSHR<br />
Retinoblastoma<br />
VHL<br />
SPTA1<br />
Spherocytosis<br />
MYH8<br />
NTRK1<br />
Piebaldism<br />
HMGA2<br />
SLC4A1<br />
Polycythemia<br />
Carcinoid_tumor<br />
Salivary<br />
of_lung<br />
RHCE<br />
1528<br />
adenoma<br />
MEN1<br />
SPTB<br />
Spinocereballar<br />
Adrenal<br />
Uterine<br />
ataxia<br />
Parathyroid<br />
adenoma<br />
leiomyoma<br />
adenoma<br />
1267<br />
Renal<br />
JAK2 Pheochromocytoma<br />
1383<br />
tubular<br />
RH<strong>AG</strong><br />
DCLRE1C<br />
TG<br />
CDC73<br />
1263<br />
Rh-negative<br />
acidosis<br />
CTLA4<br />
PRNP<br />
R<strong>AG</strong>1<br />
blood_type<br />
CACNA1A<br />
G6PD<br />
Rh-mod<br />
Thyroid<br />
GSS<br />
syndrome<br />
hormone TPO<br />
PDGFRA<br />
R<strong>AG</strong>2<br />
SDHB<br />
resistance<br />
SDHD<br />
PGK1<br />
Autoimmune<br />
IL2RG<br />
thyroid<br />
CASR<br />
3512 disease<br />
Thrombocythemia<br />
ADA<br />
Paragangliomas<br />
Combined<br />
immunodeficiency<br />
CP<br />
C6<br />
665<br />
Hypoceruloplasminemia<br />
Complement_component<br />
deficiency<br />
Frontometaphyseal<br />
Amelogenesis<br />
dysplasia<br />
CRASH<br />
Nonaka<br />
H._pylori<br />
584<br />
1119<br />
461<br />
Diabetes<br />
Smith-Fineman-Myers<br />
Ceroid-lipofuscinosis Microcephaly Hyperekplexia<br />
syndrome<br />
Chorea,<br />
infection<br />
Crohn<br />
Adrenomyeloneuropathy<br />
imperfecta<br />
1265<br />
myopathy<br />
Restrictive insipidus<br />
Tropical<br />
Adrenocortical<br />
Rapp-Hodgkin<br />
syndrome<br />
disease Melnick-Needles<br />
Hypoaldosteronism<br />
OPN1MW<br />
BCG<br />
calcific<br />
Ovarioleukodystrophy<br />
MASA<br />
Agammaglobulinemia<br />
Bosley-Salih-Alorainy<br />
hereditary<br />
Pseudohermaphroditism,<br />
syndrome<br />
Situs<br />
GP1BB<br />
FUT2<br />
dermopathy,<br />
insufficiency<br />
infection<br />
Synpolydactyly<br />
Juberg-Marsidi<br />
Leiomyomatosis<br />
pancreatitis<br />
ambiguus DLX3<br />
syndrome<br />
syndrome<br />
benign<br />
ADULT<br />
Colorblindness<br />
DiGeorge syndrome<br />
Hypohaptoglobinemia<br />
Guttmacher<br />
535<br />
male<br />
Sialuria<br />
syndrome<br />
Acrocapitofemoral<br />
syndrome<br />
Blue-cone<br />
Bernard-Soulier<br />
Bombay<br />
GLRA1<br />
lethal<br />
Leydig<br />
Sutherland-Haan<br />
ENAM<br />
CARD15<br />
EIF2B2<br />
syndrome<br />
Crigler-Najjar3037<br />
syndrome<br />
Blau<br />
syndrome<br />
syndrome<br />
phenotype<br />
Greenberg<br />
cell<br />
Limb-mammary<br />
Orofacial cleft<br />
PPT1<br />
RAPADILINO<br />
ABCD1<br />
1335<br />
Micropenis<br />
syndrome-like DNAH11 Trichodontoosseous<br />
FLNA EIF2B5<br />
dysplasia<br />
monochromacy<br />
Iron<br />
HOXA1<br />
HSPG2<br />
Ceroid<br />
dysplasia<br />
syndrome<br />
HPFH<br />
adenoma<br />
syndrome<br />
syndrome<br />
POLG<br />
GNE<br />
MCPH1<br />
BTK<br />
TITF1<br />
Startle<br />
AVPR2<br />
IFNGR1<br />
NR5A1<br />
HOXD13<br />
SPINK1<br />
785 syndrome<br />
EIF2B4<br />
294<br />
lipofuscinosis<br />
Hay-Wells<br />
Heterotopia<br />
CYP11B2<br />
van_der_Woude<br />
Alpers<br />
Hyperbilirubinemia<br />
overload/deficiency<br />
Basal<br />
disease<br />
ATRX<br />
320<br />
syndrome<br />
Kartagener<br />
Psoraisis<br />
Velocardiofacial L1CAM<br />
LHCGR<br />
FH<br />
syndrome<br />
ganglia 3260<br />
HOXA13<br />
Precocious<br />
Bethlem<br />
Otopalatodigital<br />
syndrome<br />
Analbuminemia<br />
162<br />
syndrome<br />
891<br />
syndrome<br />
Inclusion IRF6<br />
HP<br />
1611<br />
Neurodegeneration disease<br />
Mycobacterial<br />
ROR2<br />
IHH<br />
TP73L<br />
OPN1LW<br />
Weyers<br />
ZMPSTE24<br />
puberty,<br />
18<br />
Chudley-Lowry<br />
myopathy<br />
syndrome<br />
Low renin<br />
1361<br />
1080<br />
77<br />
body<br />
infection<br />
Adrenoleukodystrophy<br />
Brachydactyly<br />
Pancreatitis<br />
male<br />
Sarcoidosis<br />
EEC syndrome<br />
syndrome<br />
hypertension<br />
1376<br />
UGT1A1<br />
Sickle<br />
acrodental<br />
LBR<br />
RECQL4<br />
92<br />
Fumarase<br />
myopathy<br />
SERPINA3<br />
Sex<br />
Hand-foot-uterus<br />
reversal<br />
Tuberculosis<br />
cell<br />
COL6A1<br />
TBX1<br />
TF<br />
Popliteal<br />
FTL dysostosis<br />
deficiency<br />
Anhaptoglobinemia<br />
syndrome<br />
anemia<br />
PANK2<br />
945<br />
Hypertrypsinemia<br />
Split-hand/foot<br />
DNAH5<br />
Hemangioma<br />
pterygium Fish-eye<br />
SOX9 Pelger-Huet<br />
Hypogonadotropic<br />
Ewing<br />
Palmoplantar<br />
Abacavir 171<br />
734<br />
Hydrocephalus<br />
Atransferrinemia<br />
sarcoma<br />
hypersensitivity<br />
357<br />
Gilbert<br />
Opremazole<br />
disease<br />
anomaly<br />
Rothmund-Thomson<br />
HBB<br />
malformation<br />
DNAI1<br />
COL6A3<br />
ALB<br />
syndrome<br />
Tall<br />
syndrome<br />
87<br />
HARP<br />
727<br />
syndrome<br />
1133<br />
CFTR<br />
hypogonadism<br />
COL6A2<br />
keratoderma<br />
poor metabolizer<br />
stature<br />
EVC<br />
STAT1<br />
279<br />
Campomelic Hypophosphatemic<br />
Methemoglobinemia<br />
Cystic<br />
syndrome<br />
Kenny-Caffey<br />
1227<br />
1565<br />
1446<br />
Ciliary<br />
Cleidocranial dysplasia<br />
Alpha-actinin-3<br />
fibrosis<br />
Hemophilia<br />
679<br />
Plasminogen<br />
rickets<br />
2327<br />
IFNG<br />
GDF5<br />
syndrome-1<br />
3144<br />
Chondrodysplasia, 1466<br />
1542<br />
FLT4<br />
PEX10<br />
KRT16<br />
Erythremias Acromesomelic<br />
dyskinesia<br />
Kininogen<br />
453<br />
deficiency<br />
Grebe<br />
EWSR1<br />
DRD5<br />
Periodontitis<br />
CYP2C19 LCAT<br />
Craniometaphyseal dysplasia<br />
deficiency WHIM<br />
BCOR<br />
STAT1<br />
SLC45A2<br />
HLA-B<br />
PEX5<br />
dysplasia<br />
deficiency<br />
Proguanil<br />
dysplasia Ellis-<br />
syndrome<br />
deficiency<br />
PEX13<br />
type<br />
2354<br />
GNRHR<br />
VKORC1 F9<br />
AIDS<br />
Acrocallosal<br />
Lymphedema<br />
Blepharospasm<br />
CINCA<br />
Hypermethioninemia<br />
van Creveld<br />
Aplastic<br />
Fertile<br />
Ocular<br />
Pachyonychia<br />
poor metabolizerNorum<br />
Wolman PLG<br />
MCM6<br />
Smith-McCort<br />
FGF23<br />
MBL2 TBCE<br />
PAX2<br />
syndrome Chondrosarcoma<br />
Ankylosing<br />
syndrome<br />
Hypophosphatasia<br />
anemia<br />
539<br />
spoldylitis<br />
Conjunctivitis,<br />
syndrome<br />
Heinz<br />
eunuch<br />
albinism<br />
congenita<br />
Mephenytoin disease<br />
dysplasia<br />
PEX1<br />
PEX26<br />
KRIT1<br />
KNG1<br />
disease<br />
ACTN3<br />
Trichothiodystrophy<br />
body<br />
Dosage-sensitive<br />
syndrome<br />
ligneous<br />
Hypolactasia,<br />
Microphthalmia<br />
1580<br />
Tay-Sachs<br />
CTSC<br />
RUNX2<br />
Paget<br />
Zellweger<br />
HBA1<br />
sex<br />
Hex_A<br />
Dystonia<br />
poor metabolizer<br />
MAT1A<br />
ANKH<br />
Renal<br />
disease<br />
FOXC2<br />
adult<br />
disease Calcinosis,<br />
CXCR4<br />
GLI3<br />
Meningococcal 780<br />
anemia<br />
Red hair/<br />
Fitzgerald factor<br />
Buschke-Ollendorff<br />
Wolfram<br />
hypoplasia,<br />
syndrome<br />
reversal<br />
ERCC3<br />
MC1R<br />
ALPL<br />
tumoral<br />
107<br />
pseudodeficiency<br />
Pallister-Hall<br />
deficiency Haim-Munk<br />
type<br />
DYM<br />
Dental<br />
471<br />
disease<br />
fair skin<br />
KRT17 Ovarian<br />
syndrome syndrome<br />
1001<br />
Alopecia<br />
Aldosteronism<br />
Debrisoquine<br />
Chondrocalcinosis<br />
anomalies,<br />
Hyalinosis,<br />
Hyperandrogenism<br />
Down<br />
1002<br />
syndrome<br />
4291<br />
CIAS1<br />
syndrome<br />
isolated<br />
TERC<br />
LIPA<br />
Tuberous<br />
ERCC2<br />
CYP2C9<br />
626<br />
sensitivity<br />
isolated<br />
universalis<br />
infantile<br />
syndrome<br />
Hyperprothrombinemia Osteopoikilosis<br />
699 Coproporphyria Mevalonicaciduria<br />
Myelokathexis,<br />
sclerosis<br />
UV-induced<br />
EXT1<br />
Yellow<br />
dysgenesis<br />
Tolbutamide<br />
nail<br />
Polydactyly<br />
Steatocystoma<br />
5170<br />
TNFRSF11A<br />
Exostoses<br />
344<br />
HPRT-related<br />
701<br />
isolated<br />
systemic<br />
Thalassemias<br />
Xeroderma<br />
skin damage<br />
poor<br />
syndrome<br />
NR0B1<br />
HEXA<br />
multiplex<br />
Papillon-Lefevre<br />
Septooptic<br />
452<br />
Dyskeratosis<br />
PXMP3<br />
metabolizer Lowe<br />
FSHR<br />
Lead<br />
Beckwith-Wiedemann<br />
Hypoprothrombinemia syndrome<br />
Sialidosis gout<br />
313Odontohypophosphatasia<br />
Resting<br />
McKusick-Kaufman<br />
pigmentosum<br />
LEMD3<br />
WFS1<br />
HR<br />
dysplasia<br />
HBA2<br />
Cartilage-hair syndrome<br />
syndrome<br />
Spondylometaphyseal<br />
Leri-Weill<br />
poisoning<br />
Ovarian syndrome<br />
Muckle-Wells<br />
CYP2D6<br />
heart<br />
CYP21A2<br />
MTR<br />
MTRR<br />
dysplasia hypoplasia<br />
GM-gangliosidosis dyschondrosteosis Langer<br />
syndrome<br />
982<br />
rate<br />
Osteolysis<br />
Nemaline<br />
Virilization<br />
sex cord<br />
CPOX<br />
F2<br />
HPRT1<br />
MVK<br />
SLC3A1<br />
ANTXR2<br />
TSC2 TSC1<br />
CYP11B1<br />
ERCC5<br />
OCRL<br />
mesomelic<br />
ALAD<br />
Nephronophthisis<br />
Twinning, tumors<br />
Anderson<br />
Atrichia w/<br />
Longevity<br />
myopathy<br />
Metachromatic<br />
Codeine<br />
disease<br />
646<br />
Hypochromic<br />
210<br />
Refsum<br />
COL10A1<br />
dysplasia<br />
1526<br />
dizygotic<br />
papular lesions<br />
microcytic<br />
53<br />
292<br />
329<br />
1519<br />
SLC17A5<br />
HESX1<br />
DKC1<br />
RMRP<br />
leukodystrophy<br />
Lesch-Nyhan<br />
sensitivity<br />
ADRB1<br />
disease<br />
Spina<br />
SHOX<br />
Hyperalphalipoproteinemia<br />
syndrome,<br />
Harderoporphyrinuria<br />
Hyper-IgD Hematuria,<br />
MKKS<br />
Fibromatosisl<br />
anemia<br />
Dent<br />
GLB1<br />
Cystinuria<br />
Erythrocytosis<br />
disease<br />
Double-outlet<br />
Dysprothrombinemia<br />
1238 Salla<br />
CYP19A1<br />
bifida<br />
syndrome familial_benign<br />
Lymphangioleiomyomatosis<br />
Metaphyseal<br />
Porphyria<br />
NSD1<br />
1438<br />
disease<br />
Darier 1050<br />
chondrodysplasia<br />
Short<br />
Weaver<br />
Combined<br />
ERCC6<br />
HADHA<br />
NPHP4<br />
Synostoses<br />
right ventricle<br />
HyperphenylalaninemiaThymine-uraciluria<br />
Cholelithiasis<br />
Congestive<br />
Aromatase disease<br />
LIG4<br />
syndrome<br />
Hoyeraal-Hreidarsson 545<br />
Hemoglobi_H<br />
Mucopolysaccharidosis<br />
stature<br />
syndrome<br />
hyperlipemia<br />
FOXL2<br />
PEX7<br />
NPHP1<br />
syndrome<br />
CETP<br />
PSAP<br />
SFTPC<br />
TPM2<br />
Schindler<br />
heart<br />
Premature<br />
deficiency<br />
disease<br />
Homocysteine<br />
syndrome<br />
MTHFD1<br />
PTHR1<br />
LCHAD<br />
CFC1<br />
SAR1B<br />
failure 969 ovarian<br />
De Sanctis-Cacchione<br />
deficiency 527<br />
Pulmonary disease<br />
COL4A4<br />
Pituitary<br />
CLCN5<br />
HFE<br />
plasma<br />
Bardet-Biedl<br />
Nephrolithiasis<br />
Sotos<br />
LPL<br />
Combined<br />
PDGFRB<br />
POR<br />
NOG<br />
PAH<br />
failure<br />
hormone<br />
1325<br />
Antley-Bixler<br />
Senior-Loken<br />
syndrome Cockayne<br />
syndrome<br />
SAP deficiency<br />
ATP2A2<br />
LIG4<br />
GHR<br />
CETP<br />
Lipoprotein<br />
fibrosis<br />
level<br />
DPYD<br />
ABCB4<br />
Chylomicron<br />
syndrome<br />
deficiency<br />
syndrome 438<br />
syndrome<br />
1090<br />
Enchondromatosis<br />
Laron<br />
syndrome<br />
Heterotaxy<br />
HELLP<br />
deficiency<br />
Gaucher<br />
retention<br />
Alport<br />
dwarfism<br />
syndrome<br />
Hemochromatosis<br />
Joubert<br />
lipase<br />
Myeloproliferative<br />
Proteinuria<br />
1475<br />
Surfactant<br />
N<strong>AG</strong>A<br />
UMOD<br />
Symphalangism,<br />
disease<br />
disease<br />
Cholestasis syndrome<br />
Arthrogryposis Acrokeratosis<br />
Hypophosphatemia<br />
syndrome<br />
deficiency<br />
deficiency<br />
CTH<br />
disorder Multiple<br />
proximal<br />
Kanzaki Phenylketonuria<br />
544<br />
Hyperuricemic<br />
Cystathioninuria<br />
nephropathy<br />
verruciformis<br />
myeloma<br />
disease<br />
Supporting Information Figure 13 | Bipartite-graph re<strong>presentation</strong> of the diseasome. A disorder (circle) and a gene (rectangle) are connected if the gene is implicated in the disorder. The size of the circle represents the number of distinct genes associated with the disorder. Isolated disorders (disorders having no links to other disorders) are not shown. Also, only genes connecting disorders are shown.<br />
Disorder Class<br />
Bone<br />
Cancer<br />
Cardiovascular<br />
Connective tissue disorder<br />
Dermatological<br />
Developmental<br />
Ear, Nose, Throat<br />
Endocrine<br />
Gastrointestinal<br />
Hematological<br />
Immunological<br />
Metabolic<br />
Muscular<br />
Neurological<br />
Nutritional<br />
Ophthamological<br />
Psychiatric<br />
Renal<br />
Respiratory<br />
Skeletal<br />
multiple<br />
Unclassified<br />
Disorder Name<br />
18 Acampomelic campolelic dysplasia<br />
26 Achondrogenesis-hypochondrogenesis, type II<br />
53 Adrenal hyperplasia, congenital<br />
77 Aldosterone to renin ratio raised<br />
87 Alpha-1-antichymotrypsin deficiency<br />
92 Alpha-thalassemia/mental retardation syndrome<br />
96 Alternating hemiplegia of childhood<br />
107 Analgesia from kappa-opioid receptor agonist, female-specific<br />
117 Angiotensin I-converting enzyme<br />
126 Anterior segment anomalies and cataract<br />
129 Anxiety-related personality traits<br />
137 Apparent mineralocorticoid excess, hypertension due to<br />
144 Arrhythmogenic right ventricular dysplasia<br />
162 Athabaskan brainstem dysgenesis syndrome<br />
171 Attention-deficit hyperactivity disorder<br />
182 Bannayan-Riley-Ruvalcaba syndrome<br />
192 Beare-Stevenson cutis gyrata syndrome<br />
198 Beta-2-adrenoreceptor agonist, reduced response to<br />
210 Blepharophimosis, epicanthus inversus, and ptosis<br />
217 Bone mineral density variability<br />
275 Carpal tunnel syndrome, familial<br />
279 Cavernous malformations of CNS and retina<br />
287 Central hypoventilation syndrome<br />
292 Cerebrooculofacioskeletal syndrome<br />
294 Cerebrovascular disease, occlusive<br />
313 Cholesteryl ester storage disease<br />
320 Choreoathetosis, hypothyroidism, and respiratory distress<br />
329 Chylomicronemia syndrome, familial<br />
344 Cold-induced autoinflammatory syndrome<br />
347 Colonic aganglionosis, total, with small bowel involvement<br />
357 Conotruncal anomaly face syndrome<br />
377 Craniofacial anomalies, empty sella turcica, corneal endothelial changes<br />
378 Craniofacial-deafness-hand syndrome<br />
379 Craniofacial-skeletal-dermatologic dysplasia<br />
396 Cyclic ichthyosis with epidermolytic hyperkeratosis<br />
418 Dentinogenesis imperfecta, Shields type<br />
422 Dermatofibrosarcoma protuberans<br />
434 Dilated cardiomyopathy with woolly hair and keratoderma<br />
438 Disordered steroidogenesis, isolated<br />
439 Dissection of cervical arteries<br />
441 Dopamine beta-hydroxylase deficiency<br />
452 Dyggve-Melchior-Clausen disease<br />
453 Dysalbuminemic hyperthyroxinemia<br />
461 Dyssegmental dysplasia, Silverman-Handmaker type<br />
463 Dystransthyretinemic hyperthyroxinemia<br />
471 Elite sprint athletic performance<br />
474 Emery-Dreifuss muscular dystrophy<br />
527 Fatty liver, acute, of pregnancy<br />
535 Fibrocalculous pancreatic diabetes<br />
539 Fibular hypoplasia and complex brachydactyly<br />
544 Fluorouracil toxicity, sensitivity to<br />
545 Focal cortical dysplasia, Taylor balloon cell type<br />
549 Foveomacular dystrophy, adult-onset, with choroidal neovascularization<br />
558 Fuchs endothelial corneal dystrophy<br />
584 Giant platelet disorder, isolated<br />
594 Glomerulocystic kidney disease, hypoplastic<br />
604 Glutathione synthetase deficiency<br />
626 Greig cephalopolysyndactyly syndrome<br />
646 Hearing loss, low-frequency sensorineural<br />
665 Hemosiderosis, systemic, due to aceruloplasminemia<br />
679 High-molecular-weight kininogen deficiency<br />
699 Homocystinuria-megaloblastic anemia, cbl E type<br />
701 Homozygous 2p16 deletion syndrome<br />
727 Hyperferritinemia-cataract syndrome<br />
733 Hyperkalemic periodic paralysis<br />
734 Hyperkeratotic cutaneous capillary-venous malformations<br />
780 Hypoparathyroidism-retardation-dysmorphism syndrome<br />
785 Hypoplastic enamel pitting, localized<br />
792 Hystrix-like ichthyosis with deafness<br />
803 Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked<br />
809 Infundibular hypoplasia and hypopituitarism<br />
830 Jervell and Lange-Nielsen syndrome<br />
833 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome<br />
843 Keratitis-ichthyosis-deafness syndrome<br />
845 Keratoderma, palmoplantar, with deafness<br />
847 Keratosis palmoplantaria striata<br />
868 Laryngoonychocutaneous syndrome<br />
891 Leukoencephalopathy with vanishing white matter<br />
913 Lower motor neuron disease, progressive, without sensory symptoms<br />
930 Lynch cancer family syndrome II<br />
942 Malignant hyperthermia susceptibility<br />
945 Mandibuloacral dysplasia with type B lipodystrophy<br />
959 Mastocytosis with associated hematologic disorder<br />
969 Medullary cystic kidney disease<br />
982 Melorheostosis with osteopoikilosis<br />
1001 Methionine adenosyltransferase deficiency, autosomal recessive<br />
1002 Methylcobalamin deficiency, cblG type<br />
1016 Mitochondrial complex deficiency<br />
1050 Myelomonocytic leukemia, chronic<br />
1056 Myoglobinuria/hemolysis due to PGK deficiency<br />
1057 Myokymia with neonatal epilepsy<br />
1080 Nephrogenic syndrome of inappropriate antidiuresis<br />
1090 Neural tube defects, maternal risk of<br />
1096 Neurofibromatosis-Noonan syndrome<br />
1104 Nevus, epidermal, epidermolytic hyperkeratotic type<br />
1105 Newfoundland rod-cone dystrophy<br />
1113 Noncompaction of left ventricular myocardium<br />
1119 Norwalk virus infection, resistance to<br />
1133 Oculofaciocardiodental syndrome<br />
1140 Oligodontia-colorectal cancer syndrome<br />
1153 Ossification of the posterior longitudinal spinal ligaments<br />
1164 Osteoporosis-pseudoglioma syndrome<br />
1174 Pallidopontonigral degeneration<br />
1183 Papillary serous carcinoma of the peritoneum<br />
1227 Pigmentation of hair, skin, and eyes, variation in<br />
1229 Pigmented paravenous chorioretinal atrophy<br />
1232 Pituitary ACTH-secreting adenoma<br />
1238 Pneumonitis, desquamative interstitial<br />
1239 Pneumothorax, primary spontaneous<br />
1263 Prion disease with protracted course<br />
1265 Progressive external ophthalmoplegia with mitochondrial DNA deletions<br />
1267 Prolactinoma, hyperparathyroidism, carcinoid syndrome<br />
1297 Pyruvate dehydrogenase deficiency<br />
1325 Rhizomelic chondrodysplasia punctata<br />
1335 Robinow syndrome, autosomal recessive<br />
1347 Sandhoff disease, infantile, juvenile, and adult forms<br />
1361 Schwartz-Jampel syndrome, type 1<br />
1376 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis<br />
1383 Severe combined immunodeficiency<br />
1396 Silver spastic paraplegia syndrome<br />
1401 Skin fragility-woolly hair syndrome<br />
1414 Solitary median maxillary central incisor<br />
1432 Spondylocarpotarsal synostosis syndrome<br />
1438 Stapes ankylosis syndrome without symphalangism<br />
1446 Stevens-Johnson syndrome, carbamazepine-induced<br />
1456 Subcortical laminar heterotopia<br />
1466 Sweat chloride elevation without CF<br />
1475 Tarsal-carpal coalition syndrome<br />
1476 Tauopathy and respiratory failure<br />
1490 Thanatophoric dysplasia, types I and II<br />
1518 Transient bullous of the newborn<br />
1519 Transposition of great arteries, dextro-looped<br />
1526 Trifunctional protein deficiency<br />
1528 Trismus-pseudocomptodactyly syndrome<br />
1542 Ullrich congenital muscular dystrophy<br />
1545 Unna-Thost disease, nonepidermolytic<br />
1555 VATER association with hydrocephalus<br />
1565 Vitamin K-dependent coagulation defect<br />
1580 Warfarin resistance/sensitivity<br />
1586 Weissenbacher-Zweymuller syndrome<br />
1611 XLA and isolated growth hormone deficiency<br />
1614 Yemenite deaf-blind hypopigmentation syndrome<br />
2327 Chronic infections, due to opsonin defect<br />
2354 Congenital bilateral absence of vas deferens<br />
2385 Creatine deficiency syndrome, X-linked<br />
2785 Hypoplastic left heart syndrome<br />
3037 Multiple cutaneous and uterine leiomyomata<br />
3144 Optic nerve coloboma with renal disease<br />
3212 Persistent hyperinsulinemic hypoglycemia of infancy<br />
3229 Pigmented adrenocortical disease, primary isolated<br />
3260 Premature chromosome condensation w/ microcephaly, mental retardation<br />
3512 Total iodide organification defect<br />
3558 Ventricular fibrillation, idiopathic<br />
4291 Cerebral cavernous malformations<br />
5170 Ovarian hyperstimulation syndrome<br />
5233 Placental steroid sulfatase deficiency<br />
10
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