Disease | Disease OMIM | Gene | Gene OMIM | Comment |
AARSKOG SYNDROME » FACIODIGITOGENITAL SYNDROME | | FGD1 | | |
ABETALIPOPROTEINEMIA
» ACANTHOCYTOSIS
» BASSEN-KORNZWEIG SYNDROME
» APOLIPOPROTEIN B DEFICIENCY
» MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN DEFICIENCY
» MTP DEFICIENCY
|
200100 |
MTP |
157147 |
. |
| ABETALIPOPROTEINEMIA, NORMOTRIGLYCERIDEMIC, STEINBERG TYPE |
|
See HYPOBETALIPOPROTEINEMIA, FAMILIAL |
|
|
| AB
VARIANT GM2-GANGLIOSIDOSIS |
|
See TAY-SACHS
DISEASE, AB VARIANT |
|
|
| ACAD8
DEFICIENCY |
. |
See ISOBUTYRYL
GLYCINURIA |
|
|
| ACAMPOMELIC CAMPOMELIC DYSPLASIA |
. |
See CAMPOMELIC DYSPLASIA |
|
|
ACANTHOCYTOSIS |
. |
SLC4A1 (BAND
3 OF RED CELL MEMBRANE, ERYTHROID PROTEIN BAND 3, ANION EXCHANGE PROTEIN
1) |
109270 |
|
| See ABETALIPOPROTEINEMIA |
|
|
ACATALASEMIA
» ACATALASIA
» CATALASE DEFICIENCY |
115500 |
CAT (CATALASE) |
115500 |
|
| ACATALASIA |
|
See ACATALASEMIA |
|
|
ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME, AAA
» TRIPLE-A SYNDROME
» ALACRIMA-ACHALASIA-ADRENAL INSUFFICIENCY NEUROLOGIC DISORDER
» GLUCOCORTICOID DEFICIENCY AND ACHALASIA
» ALLGROVE SYNDROME
» ADDISONIAN-ACHALASIA SYNDROME
» HYPOADRENALISM WITH ACHALASIA
» ALACRIMA-ACHALASIA-ADDISONIANISM
» ACTH-RESISTANT ADRENAL INSUFFICIENCY, ACHALASIA AND ALACRIMA
» ACHALASIA-ALACRIMA SYNDROME |
231550 |
AAAS (ALADIN, ADRACALIN) |
605378 |
|
| ACHALASIA-ALACRIMA SYNDROME |
|
See ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME, AAA |
|
|
ACHONDROGENESIS, BRAZILIAN TYPE | | | | |
| ACHONDROGENESIS,
FRACCARO TYPE |
|
See ACHONDROGENESIS
TYPE 1B |
|
|
ACHONDROGENESIS
TYPE 1B
» ACHONDROGENESIS,
FRACCARO TYPE |
600972 |
SLC26A2 (DTD
SULFATE TRANSPORTER, DTDST) |
606718 |
|
ACHONDROGENESIS, TYPE 2 | | COL2A1 | | |
ACHONDROPLASIA | | FGFR3 | | 2 Mutations: G380R, G375C |
| ACHROMATOPSIA, INCOMPLETE (X-LINKED) |
|
See CONE-ROD DYSTROPHY, (X-LINKED) TYPE 1, CORDX1 |
|
|
| ACID ALPHA-GLUCOSIDASE DEFICIENCY |
|
See GLYCOGEN STORAGE DISEASE, TYPE 2 |
|
|
| ACID MALTASE DEFICIENCY |
|
See GLYCOGEN STORAGE DISEASE, TYPE 2 |
|
|
| ACOUSTIC
NEURINOMA |
. |
See NEUROFIBROMATOSIS
TYPE 2, NF2 |
. |
|
| ACOUSTIC
SCHWANNOMAS, BILATERAL |
. |
See NEUROFIBROMATOSIS
TYPE 2, NF2 |
. |
|
ACROCALLOSAL SYNDROME
» SCHINZEL ACROCALLOSAL SYNDROME |
200990 |
GLI3 (GLI-KRUPPEL FAMILY MEMBER 3) |
165240 |
Deletions |
ACROCAPITOFEMORAL
DYSPLASIA, ACFD |
607778 |
IHH (INDIAN
HEDGEHOG)
|
600726 |
. |
ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME » ADULT SYNDROME | | P63 (TP63) | |
Exons 5-8, 13 and 14 |
ACROKERATOSIS
VERRUCIFORMIS
» HOPF
DISEASE |
101900 |
ATP2A2 (ATP2B,
SERCA2) |
108740 |
|
ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE | | GDF5 (GROWTH / DIFFERENTIATION FACTOR 5, CDMP1, LAP4) | | |
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
» ST. HELENA DYSPLASIA |
602875 |
NPR2 (NATRIURETIC PEPTIDE RECEPTOR B/GUANYLATE CYCLASE B, ATRIAL NATRIURETIC PEPTIDE RECEPTOR, TYPE B, ANPRB) |
108961 |
|
| ACRORENOOCULAR SYNDROME |
|
See DUANE-RADIAL RAY SYNDROME |
|
|
| ACTH DEFICIENCY |
201400 |
TBX19 (T-BOX 19, T-BOX FACTOR, PITUITARY) |
604614 |
|
| ACTH
RESISTANCE |
|
See GLUCOCORTICOID
DEFICIENCY 1 |
|
|
| ACTH-RESISTANT ADRENAL INSUFFICIENCY, ACHALASIA |
|
See ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME, AAA |
|
|
ACTIN MYOPATHY | | ACTA1 (ACTIN) | | |
| ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF, VLCAD DEFICIENCY |
201475 |
ACADVL (ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, VLCAD) |
609575 |
. |
ADCA | | | | |
ADDISON DISEASE (X-LINKED) » ADRENAL HYPOPLASIA, CONGENITAL » CONGENITAL ADRENOCORTICAL HYPOPLASIA WITH HYPOGONADOTROPIC HYPOGONADISM | | DAX1 (NROB1) | | |
| ADDISONIAN-ACHALASIA SYNDROME |
|
See ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME, AAA |
|
|
| ADENOCARCINOMA OF LUNG, SOMATIC |
|
BRAF (V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1, RAFB1) |
164757 |
|
ADENOMATOUS POLYPOSIS COLI | | | | |
ADENYLOSUCCINASE DEFICIENCY » SUCCINYLPURINEMIC AUTISM | 103050 | ADSL (ADENYLOSUCCINATE LYASE) | 103050 |
Preferentially
on skin fibroblast culture for mutation analysis in proband, eventually blood
in PAX RNA tubes |
| ADHALINOPATHY,
PRIMARY |
. |
See MUSCULAR
DYSTROPHY, LIMB-GIRDLE, TYPE 2D, LGMD2D |
. |
. |
ADRENAL
HYPOPLASIA, CONGENITAL |
|
|
|
|
ADRENAL
HYPERPLASIA 4
STEROID 11-BETA-HYDROXYLASE DEFICIENCY |
|
See ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE
DEFICIENCY |
|
|
ADRENAL
HYPERPLASIA, CONGENITAL DUE TO 21-HYDROXYLASE DEFICIENCY, CAH1
» 21-ALPHA-HYDROXYLASE
DEFICIENCY
» CYP21
DEFICIENCY |
201910 |
CYP21A2 |
201910 |
Whole Gene and MLPA or 6 most common mutations: Pro30Leu, A/C 655->G, Ile172Asn, Val281Leu, Gln318X, Trp356Arg |
ADRENAL
HYPERPLASIA, CONGENITAL, DUE TO APPARENT COMBINED P450C17 AND
P450C21 DEFICIENCY
» ADRENAL HYPERPLASIA, CONGENITAL, DUE TO DEFECTS IN SEVERAL STEROID-BIOSYNTHETIC
ENZYMES
» MALE PSEUDOHERMAPHRODITISM DUE TO MULTIPLE MICROSOMAL MIXED FUNCTION
OXIDASE DEFICIENCY |
201750 |
POR (CYTOCHROME
P450 OXIDOREDUCTASE) |
124015 |
|
| ADRENAL
HYPERPLASIA, CONGENITAL, DUE TO DEFECTS IN SEVERAL STEROID-BIOSYNTHETIC
ENZYMES |
|
See ADRENAL
HYPERPLASIA, CONGENITAL, DUE TO APPARENT COMBINED P450C17 AND
P450C21 DEFICIENCY |
|
|
ADRENAL
HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE
DEFICIENCY
» ADRENAL
HYPERPLASIA 4
STEROID 11-BETA-HYDROXYLASE DEFICIENCY
» 11-@BETA-HYDROXYLASE
DEFICIENCY
» ADRENAL
HYPERPLASIA, HYPERTENSIVE FORM
» P450C11B1
DEFICIENCY |
202010 |
CYP11B1 (CYTOCHROME
P450, SUBFAMILY 11B, POLYPEPTIDE 1, STEROID 11-BETA-HYDROXYLASE,
P450C11) |
610613 |
Whole Gene or CYP11B1/
CYP11B2 fusion |
ADRENAL
HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE
DEFICIENCY
» ADRENAL
HYPERPLASIA 4
STEROID 11-BETA-HYDROXYLASE DEFICIENCY
» 11-@BETA-HYDROXYLASE
DEFICIENCY
» ADRENAL
HYPERPLASIA, HYPERTENSIVE FORM
» P450C11B1
DEFICIENCY |
202010 |
CYP11B2 (CYTOCHROME
P450, SUBFAMILY XIB, POLYPEPTIDE 2, STEROID 11/18-BETA-HYDROXYLASE,
STEROID 18-OXIDASE,
ALDOSTERONE SYNTHASE, CORTICOSTERONE METHYLOXIDASE) |
124080 |
|
| ADRENAL
HYPERPLASIA, HYPERTENSIVE FORM |
|
See ADRENAL
HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE
DEFICIENCY |
|
|
| ADRENAL
UNRESPONSIVENESS TO ACTH |
|
See GLUCOCORTICOID
DEFICIENCY 1 |
|
|
| ADRENOLEUKODYSTROPHY, ALD | 300100 |
ABCD1 |
300371 |
|
| ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM, NALD |
202370 |
PEX2, PEX10, PEX12 and PEX26 |
|
PEX2 (Exon 4), PEX10 (Exons 4 and 5), PEX12 (Exons 2 and 3) and PEX26 (Exons 2 and 3) |
PEX1 (PEROXISOME BIOGENESIS FACTOR 1) |
602136 |
Exons 13 and 15 |
| ADRENOMYELONEUROPATHY, AMN | | See ADRENOLEUKODYSTROPHY, ALD | | |
| ADULT LACTASE DEFICIENCY |
|
See LACTOSE INTOLERANCE |
|
|
ADULT
POLYCYSTIC KIDNEYS, PKD, ADPKD
» POTTER TYPE 3 POLYCYSTIC KIDNEY DISEASE
|
173900 |
PKD1 (POLYCYSTIN
1)
AND
PKD2 (POLYCYSTIN 2) |
601313
AND
173910 |
2
Genes |
ADULT SYNDROME | | | | |
AFIBRINOGENEMIA » DYSFIBRINOGENEMIA | | FGA (FIBRINOGEN ALPHA) | | |
FGB (FIBRINOGEN BETA) | | |
FGG (FIBRINOGEN GAMMA) | | |
All 3 Genes: FGA, FGB and FGG |
|
|
| AGAMMAGLOBULINEMIA, NON-BRUTON TYPE (AUTOSOMAL RECESSIVE) |
601495 |
IGHM (IMMUNOGLOBULIN MU) |
147020 |
|
AGAMMAGLOBULINEMIA (X-LINKED), XLA » BRUTON AGAMMAGLOBULINEMIA » HYPOGAMMAGLOBULINEMIA (X-LINKED) | | BTK (BRUTON TYROSINE KINASE, ATK, BPK) | | |
AICARDI-GOUTIERES SYNDROME 1
» ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH INTRACRANIAL CALCIFICATION AND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSIS
» CREE ENCEPHALITIS
» PSEUDO-TORCH SYNDROME
» PSEUDOTOXOPLASMOSIS SYNDROME |
225750 |
TREX1 (3-PRIME @REPAIR EXONUCLEASE 1, ATRIP) |
606605 |
|
| AICARDI-GOUTIERES SYNDROME 2 |
610181 |
RNASEH2B (RIBONUCLEASE H2, SUBUNIT B) |
610326 |
|
| AICARDI-GOUTIERES SYNDROME 3 |
610329 |
RNASEH2C (RIBONUCLEASE H2, SUBUNIT C) |
610330 |
|
| AICARDI-GOUTIERES SYNDROME 4 |
610333 |
RNASEH2A (RIBONUCLEASE H2, LARGE SUBUNIT) |
606034 |
|
| ALACRIMA-ACHALASIA-ADDISONIANISM |
|
See ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME, AAA |
|
|
| ALACRIMA-ACHALASIA-ADRENAL INSUFFICIENCY NEUROLOGIC DISORDER |
|
See ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME, AAA |
|
|
ALAGILLE SYNDROME | | JAG1 (JAGGED1) | | |
| ALANINE-GLYOXYLATE AMINOTRANSFERASE DEFICIENCY |
|
See HYPEROXALURIA, PRIMARY, TYPE 1 |
|
|
| AL-AWADI/RAAS-ROTHSCHILD SYNDROME |
|
See ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY |
|
|
| ALBERS-SCHONBERG
DISEASE (AUTOSOMAL RECESSIVE) |
. |
See OSTEOPETROSIS
(AUTOSOMAL RECESSIVE) |
. |
|
ALBINISM, OCULAR, TYPE 1, OA1
» NETTLESHIP-FALLS TYPE OCULAR ALBINISM |
300500 |
OA1 |
300500 |
|
| ALBOPAPULOID
DOMINANT DYSTROPHIC EPIDERMOLYSIS BULLOSA |
|
See EPIDERMOLYSIS
BULLOSA DYSTROPHICA (AUTOSOMAL DOMINANT) |
|
|
ALBRIGHT
HEREDITARY OSTEODYSTROPHY
» PSEUDOHYPOPARATHYROIDISM,
TYPE 1A
» PSEUDOHYPOPARATHYROIDISM, TYPE 1C
» PSEUDOPSEUDOHYPOPARATHYROIDISM |
103580 |
GNAS (GNAS1,
ALPHA SUBUNIT OF Gs, ALPHA SUBUNIT OF ADENYLATE CYCLASE STIMULATORY PROTEIN) |
139320 |
|
| ALBRIGHT
SYNDROME |
. |
See MCCUNE-ALBRIGHT
SYNDROME |
. |
|
| ALDOLASE
B DEFICIENCY |
|
See FRUCTOSE
INTOLERANCE |
|
|
| ALDOSTERONE
DEFICIENCY 1 |
|
See CORTICOSTERONE METHYLOXIDASE TYPE 1 DEFICIENCY |
|
|
| ALDOSTERONE
DEFICIENCY DUE TO DEFECT IN STEROID 18-HYDROXYLASE |
|
See CORTICOSTERONE
METHYLOXIDASE TYPE 1 DEFICIENCY |
|
|
| ALEXANDER DISEASE |
203450 |
GFAP (GLIAL FIBRILLARY ACIDIC PROTEIN) |
137780 |
|
| ALLGROVE SYNDROME |
|
See ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME, AAA |
|
|
| ALPHA-1,4-GLUCOSIDASE DEFICIENCY |
|
See GLYCOGEN STORAGE DISEASE, TYPE 2 |
|
|
ALPHA
HAEMOGLOBINOPATHIA
» ALPHA THALASSEMIA
|
141800 |
HBA 1 and HBA 2 (ALPHA GLOBIN)
|
141800 |
Whole Gene (both HBA1 and HBA2) or Deletion Analysis (MLPA) |
| ALPHA-L-FUCOSIDASE DEFICIENCY |
|
See FUCOSIDOSIS |
|
|
ALPHA
THALASSEMIA
|
. |
See ALPHA
HAEMOGLOBINOPATHIA |
. |
. |
ALPHA-THALASSEMIA
/ MENTAL RETARDATION SYNDROME, ATRX (X-LINKED)
» ATR-X SYNDROME
» XLMR-HYPOTONIC FACE SYNDROME
» MENTAL RETARDATION, XLMR-HYPOTONIC FACE SYNDROME
|
301040 |
ATRX (XNP) |
300032 |
Blood
in RNA PAX tubes |
ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS
» ALPERS PROGRESSIVE INFANTILE POLIODYSTROPHY
» ALPERS SYNDROME
» ALPERS-HUTTENLOCHER SYNDROME
» NEURONAL DEGENERATION OF CHILDHOOD WITH LIVER DISEASE, PROGRESSIVE |
203700 |
POLG (POLYMERASE, DNA, GAMMA) |
174763 |
. |
| ALPERS-HUTTENLOCHER SYNDROME |
|
See ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS |
|
|
| ALPERS PROGRESSIVE INFANTILE POLIODYSTROPHY |
|
See ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS |
|
|
| ALPERS SYNDROME |
|
See ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS |
|
|
| See PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS (AUTOSOMAL RECESSIVE) |
|
|
| ALPORT
SYNDROME (AUTOSOMAL RECESSIVE) |
203780 |
COL4A3 |
120070 |
. |
| COL4A4 |
120131 |
. |
| ALPORT
SYNDROME-LIKE HEREDITARY NEPHRITIS |
|
See ALPORT
SYNDROME (X-LINKED) |
|
|
ALPORT
SYNDROME (X-LINKED)
» ALPORT SYNDROME-LIKE HEREDITARY NEPHRITIS
|
301050 |
COL4A5 |
303630 |
. |
| ALPORT
SYNDROME WITH LEUKOCYTE INCLUSIONS AND MACROTHROMBOCYTOPENIA |
|
See FECHTNER
SYNDROME |
|
|
| ALPORT
SYNDROME WITH MACROTHROMBOCYTOPENIA |
|
See EPSTEIN
SYNDROME |
|
|
| ALSTROM
SYNDROME, ALMS |
203800 |
ALMS1 |
606844 |
Exons
10, 16, and part of Exon 8 |
ALZHEIMER
DEMENTIA, EARLY-ONSET, TYPE 1, AD1 |
|
APP |
|
Whole Gene or Exons 16 and 17 harbouring the majority of mutations |
ALZHEIMER
DEMENTIA, EARLY-ONSET, TYPE 3, AD3
|
607822 |
PSEN1 (PRESENILIN
1, PS1) |
104311 |
|
ALZHEIMER
DEMENTIA, EARLY-ONSET, TYPE 4, AD4
|
606889 |
PSEN2 (PRESENILIN
2, PS2)
|
600759 |
|
| AMAUROSIS CONGENITA OF LEBER 3 |
|
See LEBER CONGENITAL AMAUROSIS, TYPE 3, LCA3 |
|
|
AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL, CAMT | | MPL (MYELOPROLIFERATIVE LEUKEMIA VIRUS ONCOGENE, TPOR) | | |
| AMYLO-1,6-GLUCOSIDASE DEFICIENCY |
|
See GLYCOGEN STORAGE DISEASE, TYPE 3 |
|
|
AMYLOID POLYNEUROPATHY » AMYLOIDOSIS 1 | | TTR (TRANSTHYRETIN) | | Exons
2-4 |
AMYLOIDOSIS 1 | | | | |
| AMYLOIDOSIS,
CEREBRAL AMYLOID ANGIOPATHY |
.. |
See CEREBRAL
AMYLOID ANGIOPATHY |
|
|
AMYLOIDOSIS, CEREBROARTERIAL | | | | |
AMYLOIDOSIS,
FAMILIAL VISCERAL
» AMYLOIDOSIS 8
» OSTERTAG TYPE AMYLOIDOSIS
» GERMAN TYPE AMYLOIDOSIS
» AMYLOIDOSIS, FAMILIAL RENAL |
105200 |
FGA (FIBRINOGEN
ALPHA) |
134820 |
|
| AMYLOIDOSIS,
FAMILIAL RENAL |
|
See AMYLOIDOSIS,
FAMILIAL VISCERAL |
|
|
| AMYLOIDOSIS
8 |
|
See AMYLOIDOSIS,
FAMILIAL VISCERAL |
|
|
AMYOTROPHIC
LATERAL SCLEROSIS 4, JUVENILE, ALS4
» NEURONOPATHY,
DISTAL HEREDITARY MOTOR, WITH PYRAMIDAL FEATURES |
602433 |
SETX (SENATAXIN) |
608465 |
|
AMYOTROPHIC LATERAL SCLEROSIS, ALS » LOU GEHRIG'S DISEASE | | SOD1 | | |
| AMYOTROPHIC LATERAL SCLEROSIS, FAMILIAL, FALS, ALS1 |
105400 |
ANG (ANGIOGENIN, RNASE5) |
105850 |
|
ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
» ANDERSEN SYNDROME LONG QT SYNDROME 7, LQT7
» PERIODIC PARALYSIS, POTASSIUM-SENSITIVE CARDIODYSRHYTHMIC TYPE
» ANDERSEN-TAWIL SYNDROME |
170390 |
KCNJ2 (POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 2, KIR2.1) |
600681 |
|
ANDERSEN SYNDROME
LONG QT SYNDROME 7, LQT7 |
|
See ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS |
|
|
| ANDERSEN-TAWIL SYNDROME |
|
See ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS |
|
|
ANDROGEN INSENSITIVITY SYNDROME, AIS | | AR (ANDROGEN RECEPTOR) | | . |
ANEMIA,
DYSERYTHROPOIETIC CONGENITAL, TYPE 1
» DYSERYTHROPOIETIC
ANEMIA, CONGENITAL, TYPE 1 |
224120 |
CDAN1 (CODANIN
1, DISCS LOST, DROSOPHILA, HOMOLOG OF)
|
607465 |
|
| ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA |
301310 |
ABCB7 (ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 7, ABC TRANSPORTER 7) |
300135 |
. |
ANGELMAN SYNDROME, AS | | UBE3A | | Whole Gene or IC Deletion or Methylation |
| ANGELMAN
SYNDROME, ATYPICAL |
105830 |
CDKL5 (CYCLIN-DEPENDENT
KINASE-LIKE 5, STK9) |
|
|
ANGIOEDEMA » ANGIONEUROTIC EDEMA
» QUINCKE EDEMA | | C1NH
(C1 ESTERASE INHIBITOR, SERPING 1) | | |
ANHIDROTIC ECTODERMAL DYSPLASIA 3, ED3 » HYPOHIDROTIC ECTODERMAL DYSPLASIA (AUTOSOMAL DOMINANT), EDA3
» ECTODERMAL DYSPLASIA,
ANHIDROTIC ECTODERMAL DYSPLASIA 3 | | EDAR (ECTODYSPLASIN 1) | | |
| ANISOSPONDYLIC CAMPTOMICROMELIC DWARFISM, SILVERMAN-HANDMAKER TYPE |
|
See DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE |
|
|
ANIRIDIA, TYPE 2, AN2 | | PAX6 (PAIRED
BOX GENE 6) | | Whole
Gene or Deletion Analysis (MLPA) |
ANKYLOBLEPHARON-ECTODERMAL DEFECTS WITH CLEFT LIP AND PALATE » HAY-WELLS SYNDROME | | P63 (TP63) | |
Exons 5-8, 13 and 14 |
| ANOPHTHALMIA,
ANOP3 |
206900 |
SOX2 (SRY-BOX
2)
|
184429 |
|
| ANOSMIC
HYPOGONADISM |
|
See KALLMANN SYNDROME, TYPE 1, KAL1 |
|
|
ANTENATAL BARTTER SYNDROME, TYPE 2
» HYPOKALEMIC ALKALOSIS WITH HYPERCALCIURIA, ANTENATAL, TYPE 2
» HYPERPROSTAGLANDIN E SYNDROME, TYPE 2 |
241200 |
KCNJ1 (POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 1, KIR1.1, ROMK1) |
600359 |
|
| ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS |
|
FOXC1 (FORKHEAD BOX C1, FORKHEAD, DROSOPHILA, HOMOLOG-LIKE 7, FKHL7
FORKHEAD-RELATED ACTIVATOR 3, FREAC3) |
601090 |
Whole Gene Sequencing or Deletion-Duplication |
ANTITHROMBIN
3 DEFICIENCY
» THROMBOPHILIA,
HEREDITARY, DUE TO DEFICIENCY OF AT3 |
107300 |
AT3 (SERPINC1)
|
107300 |
|
ANTITRYPSINE DEFICIENCY, AAT | | PI (ANTITRYPSINE, PROTEASE INHIBITOR) | | Alleles
M, S and Z |
ANTLEY-BIXLER
SYNDROME
» TRAPEZOIDOCEPHALY-SYNOSTOSIS SYNDROME
» MULTISYNOSTOTIC OSTEODYSGENESIS WITH LONG BONE FRACTURES
» OSTEODYSGENESIS, MULTISYNOSTOTIC, WITH FRACTURES |
207410 |
POR (CYTOCHROME
P450 OXIDOREDUCTASE) |
124015 |
|
| ANTOPOL DISEASE |
|
See GLYCOGEN STORAGE DISEASE, TYPE 2B |
|
|
| ANUS,
IMPERFORATE, WITH HAND, FOOT, AND EAR ANOMALIES |
|
See |