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Foresight Universal PLUS Carrier with Fragile X

Test Catalog Information

Test Catalog Synonyms
EPIC Synonyms UCSPFRX
Universal PLUS Carrier w/FRX
Cerner Primary MnemonicUniversal PLUS Carrier w/FRX
EPIC Display NameForesight Universal PLUS Carrier with Fragile X
Allscripts (AEHR) Order Name

Universal Carrier Screen Plus with Fragile X

Sunrise Clinical Manager (SCM) Order Name

Foresight TM Carrier Scr with FRX (UCSFR)

EPIC Inpatient Orderable Yes
EPIC Outpatient Orderable Yes
Cerner Results Cartilage-hair hypoplasia
Sulfate transporter-related osteochondro
Pendred syndrome
Isovaleric acidemia
Fanconi anemia type C
Primary hyperoxaluria type 2
HJE bullosa, LAMB3-related
cerebrotendinous xanthomatosis
hydrolethalus syndrome
mucolipidosis III gamma
mucopolysaccharidosis type IIIC
MUT-related methylmalonic acidemia
peroxisome biogenesis disorder type 3
peroxisome biogenesis disorder type 4
spastic paraplegia type 15
spondylothoracic dysostosis
TPP1-related neuronal ceroid lipofuscino
Biotinidase deficiency
Canavan disease
ARSACS
Bardet-Biedl syndrome, BBS1-related
Polyglandular autoimmune syndrome type 1
Carnitine palmitoyltransferase II defici
GJB2-related DFNB1 nonsyndromic hearing
Lipoamide dehydrogenase deficiency
Metachromatic leukodystrophy
Nijmegen breakage syndrome
Sjogren-Larsson syndrome
Rhizomelic chondrodysplasia punctata typ
PEX1-related Zellweger syndrome spectrum
adenosine deaminase deficiency
argininemia
autosomal recessive osteopetrosis type 1
dysferlinopathy
dystrophinopathy (including Duchenne/Bec
ERCC8-related disorders
EVC2-related Ellis-van Creveld syndrome
Fanconi anemia complementation group A
Leigh syndrome, French-Canadian type
maple syrup urine disease type II
methylmalonic acidemia, cblA type
mucopolysaccharidosis type II
pyruvate carboxylase deficiency
D-bifunctional protein deficiency
Hexosaminidase A deficiency
Bardet-Biedl syndrome, BBS10-related
Ataxia with vitamin E deficiency
Primary hyperoxaluria type 1
Smith-Lemli-Opitz syndrome
Krabbe disease
6-pyruvoyl-tetrahydropterin synthase def
EVC-related Ellis-van Creveld syndrome
FKRP-related disorders
GLB1-related disorders
HMG-CoA lyase deficiency
MYO7A-related disorders
Niemann-Pick disease type C2
ornithine transcarbamylase deficiency
PCCB-related propionic acidemia
peroxisome biogenesis disorder type 6
RTEL1-related disorders
Bloom syndrome
Aspartylglycosaminuria
Salla disease
Maple syrup urine disease type 1B
HJE bullosa, LAMC2-related
NEB-related nemaline myopathy
Muscle-eye-brain disease
Glycogen storage disease type III
Pompe disease
Medium chain acyl-CoA dehydrogenase defi
GRACILE syndrome
argininosuccinic aciduria
carbamoylphosphate synthetase I deficien
congenital disorder of glycosylation typ
gamma-sarcoglycanopathy
USH2A-related disorders
xeroderma pigmentosum group A
X-linked congenital adrenal hypoplasia
HJE bullosa, LAMA3-related
Congenital disorder of glycosylation la
Galactosemia
congenital disorder of glycosylation lb
Glutaric acidemia type 1
Hurler syndrome
Wilson disease
very long chain acyl-CoA dehydrogenase d
Walker-Warburg syndrome
Cystic fibrosis
Northern epilepsy
Short chain acyl-CoA dehydrogenase defic
Usher syndrome type 3
X-linked juvenile retinoschisis
Inclusion body myopathy 2
Megalencephalic leukoencephalopathy with
11-beta-hydroxylase-deficient congenital
Bardet-Biedl syndrome, BBS2-related
galactokinase deficiency
MKS1-related disorders
primary hyperoxaluria type 3
Sandhoff disease
TGM1-related autosomal recessive congeni
X-linked adrenoleukodystrophy
Niemann-Pick disease type C
Pycnodysostosis
Andermann syndrome
Cystinosis
Citrullinemia type 1
Ataxia-telangiectasia
Congenital finnish nephrosis
Usher syndrome type 1F
Steroid-resistant nephrotic syndrome
Joubert syndrome 2
Hypophosphatasia, autosomal recessive
Hb beta chain-related hemoglobinopathy
Glycogen storage disease type Ia
Long chain 3-hydroxyacyl-CoA dehydrogena
Autosomal recessive polycystic kidney di
Familial dysautonomia
CLN3-related neuronal ceroid lipofuscino
Segawa syndrome
AMT-related glycine encephalopathy
Bardet-Biedl syndrome, BBS12-related
calpainopathy
CLN6-related neuronal ceroid lipofuscino
COL4A4-related Alport syndrome
delta-sarcoglycanopathy
ERCC6-related disorders
KCNJ11-related familial hyperinsulinism
lipoid congenital adrenal hyperplasia
lysosomal acid lipase deficiency
methylmalonic aciduria and homocystinuri
mucopolysaccharidosis type IIIB
PCCA-related propionic acidemia
Alpha Thalassemia
Congenital Adrenal Hyperplasia
Fragile X syndrome
Carnitine palmitoyltransferase IA defici
Alpha-mannosidosis
Limb-girdle muscular dystrophy type 2D
Familial Mediterranean fever
Tyrosinemia type I
Phenylalanine hydroxylase deficiency
Gaucher disease
Cohen syndrome
GNPTAB-related disorders
holocarboxylase synthetase deficiency
LAMA2-related muscular dystrophy
mucopolysaccharidosis type IIIA
X-linked myotubular myopathy
Glycogen storage disease type Ib
Mucolipidosis IV
Niemann-Pick disease, SMPD1-associated
Spinal muscular atrophy
ABCC8-related hyperinsulinism
CLN5-related neuronal ceroid lipofuscino
Hereditary fructose intolerance
Homocystinuria / Cystathionine beta-synt
PPT1-related neuronal ceroid lipofuscino
PROP1-related combined pituitary hormone
Costeff optic atrophy syndrome
Limb-girdle muscular dystrophy type 2E
Primary carnitine deficiency
X-linked severe combined immunodeficienc
Alstrom syndrome
ATP7A-related disorders
COL4A3-related Alport syndrome
Fabry disease
GLDC-related glycine encephalopathy
maple syrup urine disease type Ia
methylmalonic acidemia, cblB type
peroxisome biogenesis disorder type 5
tyrosinemia type II
USH1C-related disorders
xeroderma pigmentosum group C
X-linked Alport syndrome
Clinical Info

The test can detect over 176 health conditions that can be passed unknowingly from parent to child plus Fragile X.

Specimen Type

Blood

Container

Lavender Top Tube

Collection Instructions

Container/Tube: Lavender top tube(s) Specimen: Whole Blood 3 ml's Transport Temperature: Room Temperature Note: Requires Ethnicity (required for interpretation) Choices are: Northern European (British, German) Southern European (Italian, Greek) French Canadian Ashkenazi Jewish Finnish Other/Mixed Caucasian  East Asian (Chinese, Japanese) South Asian (Indian, Pakistani) Southeast Asian (Filipino, Vietnamese) African or African American Hispanic  Middle Eastern Native American Pacific Islander Unknown

Transport Instructions

Specimen Stability

Methodology

Next-generation Sequencing

Days Performed

TAT: 2 Weeks

Performing Laboratory

Counsyl Laboratory

CPT

81200,81205,81209,81220,81242,81243,81250,81251,81255,81260,81290,81330,81332,81400,81401

PDM

1559071

Desired Epic Build Foresight Universal PLUS Carrier with Fragile X

Cerner Primary Mnemonic: Universal PLUS Carrier w/FRX
PDM 1559071
Informatics - WorkgroupMolecular-send outs
Synonyms *UCSPFRX
Universal PLUS Carrier w/FRX
Display Name *Foresight Universal PLUS Carrier with Fragile X
Order Entry Specimen Sources *
Order Entry Specimen Types
Blood
Specimen Navigator Specimen Types
Specimen Navigator Specimen Sources
Specimen Navigator Short Name
Ordering info (EPIC SmartText)The test can detect over 176 health conditions that can be passed unknowingly from parent to child plus Fragile X.
IP Orderable Yes
OP Orderable Yes
AOEs *

AP AOEs
Special History No
Build Comments
Filter *genetics
Procedure Category Change
Cerner Results

Result DescResult displayResult PDM
CSYL33 Cartilage-hair hypoplasia 7901018
CSYL145 Sulfate transporter-related osteochondro 7901073
CSYL126 Pendred syndrome 7901062
CSYL96 Isovaleric acidemia 7901049
CSYL59 Fanconi anemia type C 7901032
CSYL91 Primary hyperoxaluria type 2 7901048
CSYL192 HJE bullosa, LAMB3-related 7901086
CSYL1100 cerebrotendinous xanthomatosis 7901136
CSYL1141 hydrolethalus syndrome 7901149
CSYL1165 mucolipidosis III gamma 7901163
CSYL1197 mucopolysaccharidosis type IIIC 7901175
CSYL1159 MUT-related methylmalonic acidemia 7901161
CSYL1216 peroxisome biogenesis disorder type 3 7901187
CSYL1215 peroxisome biogenesis disorder type 4 7901186
CSYL1201 spastic paraplegia type 15 7901177
CSYL1203 spondylothoracic dysostosis 7901178
CSYL148 TPP1-related neuronal ceroid lipofuscino 7901074
CSYL25 Biotinidase deficiency 7901013
CSYL30 Canavan disease 7901015
CSYL15 ARSACS 7901007
CSYL189 Bardet-Biedl syndrome, BBS1-related 7901083
CSYL19 Polyglandular autoimmune syndrome type 1 7901011
CSYL32 Carnitine palmitoyltransferase II defici 7901017
CSYL69 GJB2-related DFNB1 nonsyndromic hearing 7901035
CSYL101 Lipoamide dehydrogenase deficiency 7901051
CSYL109 Metachromatic leukodystrophy 7901056
CSYL124 Nijmegen breakage syndrome 7901061
CSYL142 Sjogren-Larsson syndrome 7901071
CSYL139 Rhizomelic chondrodysplasia punctata typ 7901069
CSYL156 PEX1-related Zellweger syndrome spectrum 7901081
CSYL1082 adenosine deaminase deficiency 7901127
CSYL1089 argininemia 7901133
CSYL1180 autosomal recessive osteopetrosis type 1 7901168
CSYL1006 dysferlinopathy 7901123
CSYL1115 dystrophinopathy (including Duchenne/Bec 7901139
CSYL1268 ERCC8-related disorders 7901195
CSYL1233 EVC2-related Ellis-van Creveld syndrome 7901191
CSYL1127 Fanconi anemia complementation group A 7901143
CSYL99 Leigh syndrome, French-Canadian type 7901199
CSYL1153 maple syrup urine disease type II 7901155
CSYL1158 methylmalonic acidemia, cblA type 7901160
CSYL1140 mucopolysaccharidosis type II 7901148
CSYL1191 pyruvate carboxylase deficiency 7901172
CSYL127 D-bifunctional protein deficiency 7901063
CSYL1025 Hexosaminidase A deficiency 7901099
CSYL190 Bardet-Biedl syndrome, BBS10-related 7901084
CSYL17 Ataxia with vitamin E deficiency 7901009
CSYL90 Primary hyperoxaluria type 1 7901047
CSYL143 Smith-Lemli-Opitz syndrome 7901072
CSYL97 Krabbe disease 7901050
CSYL1078 6-pyruvoyl-tetrahydropterin synthase def 7901126
CSYL1232 EVC-related Ellis-van Creveld syndrome 7901190
CSYL100 FKRP-related disorders 7901121
CSYL1134 GLB1-related disorders 7901146
CSYL1076 HMG-CoA lyase deficiency 7901125
CSYL1208 MYO7A-related disorders 7901181
CSYL1173 Niemann-Pick disease type C2 7901165
CSYL1179 ornithine transcarbamylase deficiency 7901167
CSYL1189 PCCB-related propionic acidemia 7901171
CSYL1214 peroxisome biogenesis disorder type 6 7901185
CSYL1116 RTEL1-related disorders 7901140
CSYL27 Bloom syndrome 7901014
CSYL16 Aspartylglycosaminuria 7901008
CSYL63 Salla disease 7901033
CSYL103 Maple syrup urine disease type 1B 7901053
CSYL193 HJE bullosa, LAMC2-related 7901087
CSYL1008 NEB-related nemaline myopathy 7901091
CSYL120 Muscle-eye-brain disease 7901059
CSYL75 Glycogen storage disease type III 7901040
CSYL74 Pompe disease 7901039
CSYL105 Medium chain acyl-CoA dehydrogenase defi 7901054
CSYL78 GRACILE syndrome 7901043
CSYL14 argininosuccinic aciduria 7901198
CSYL1227 carbamoylphosphate synthetase I deficien 7901189
CSYL1338 congenital disorder of glycosylation typ 7901196
CSYL1148 gamma-sarcoglycanopathy 7901152
CSYL1207 USH2A-related disorders 7901180
CSYL1213 xeroderma pigmentosum group A 7901184
CSYL1259 X-linked congenital adrenal hypoplasia 7901193
CSYL191 HJE bullosa, LAMA3-related 7901085
CSYL41 Congenital disorder of glycosylation la 7901025
CSYL187 Galactosemia 7901082
CSYL42 congenital disorder of glycosylation lb 7901026
CSYL71 Glutaric acidemia type 1 7901036
CSYL116 Hurler syndrome 7901058
CSYL154 Wilson disease 7901079
CSYL1019 very long chain acyl-CoA dehydrogenase d 7901095
CSYL1024 Walker-Warburg syndrome 7901118
CSYL34 Cystic fibrosis 7901019
CSYL38 Northern epilepsy 7901023
CSYL140 Short chain acyl-CoA dehydrogenase defic 7901070
CSYL152 Usher syndrome type 3 7901077
CSYL155 X-linked juvenile retinoschisis 7901080
CSYL77 Inclusion body myopathy 2 7901042
CSYL106 Megalencephalic leukoencephalopathy with 7901055
CSYL1073 11-beta-hydroxylase-deficient congenital 7901124
CSYL1095 Bardet-Biedl syndrome, BBS2-related 7901134
CSYL1237 galactokinase deficiency 7901192
CSYL1155 MKS1-related disorders 7901157
CSYL1185 primary hyperoxaluria type 3 7901169
CSYL1194 Sandhoff disease 7901173
CSYL1145 TGM1-related autosomal recessive congeni 7901151
CSYL1083 X-linked adrenoleukodystrophy 7901128
CSYL123 Niemann-Pick disease type C 7901060
CSYL136 Pycnodysostosis 7901068
CSYL7 Andermann syndrome 7901002
CSYL45 Cystinosis 7901028
CSYL1017 Citrullinemia type 1 7901093
CSYL18 Ataxia-telangiectasia 7901010
CSYL43 Congenital finnish nephrosis 7901027
CSYL153 Usher syndrome type 1F 7901078
CSYL1020 Steroid-resistant nephrotic syndrome 7901096
CSYL1016 Joubert syndrome 2 7901092
CSYL196 Hypophosphatasia, autosomal recessive 7901088
CSYL1026 Hb beta chain-related hemoglobinopathy 7901100
CSYL72 Glycogen storage disease type Ia 7901037
CSYL102 Long chain 3-hydroxyacyl-CoA dehydrogena 7901052
CSYL131 Autosomal recessive polycystic kidney di 7901065
CSYL56 Familial dysautonomia 7901030
CSYL36 CLN3-related neuronal ceroid lipofuscino 7901021
CSYL150 Segawa syndrome 7901075
CSYL1130 AMT-related glycine encephalopathy 7901144
CSYL1096 Bardet-Biedl syndrome, BBS12-related 7901135
CSYL1149 calpainopathy 7901153
CSYL1172 CLN6-related neuronal ceroid lipofuscino 7901164
CSYL1085 COL4A4-related Alport syndrome 7901129
CSYL1150 delta-sarcoglycanopathy 7901154
CSYL1267 ERCC6-related disorders 7901194
CSYL1125 KCNJ11-related familial hyperinsulinism 7901142
CSYL1108 lipoid congenital adrenal hyperplasia 7901138
CSYL1101 lysosomal acid lipase deficiency 7901137
CSYL1157 methylmalonic aciduria and homocystinuri 7901159
CSYL1196 mucopolysaccharidosis type IIIB 7901174
CSYL1188 PCCA-related propionic acidemia 7901170
CSYL12 Alpha Thalassemia 7901120
CSYL1 Congenital Adrenal Hyperplasia 7901119
CSYL1023 Fragile X syndrome 7901108
CSYL31 Carnitine palmitoyltransferase IA defici 7901016
CSYL10 Alpha-mannosidosis 7901005
CSYL11 Limb-girdle muscular dystrophy type 2D 7901006
CSYL58 Familial Mediterranean fever 7901031
CSYL151 Tyrosinemia type I 7901076
CSYL130 Phenylalanine hydroxylase deficiency 7901064
CSYL67 Gaucher disease 7901034
CSYL39 Cohen syndrome 7901024
CSYL1164 GNPTAB-related disorders 7901162
CSYL1139 holocarboxylase synthetase deficiency 7901147
CSYL1144 LAMA2-related muscular dystrophy 7901150
CSYL117 mucopolysaccharidosis type IIIA 7901122
CSYL1340 X-linked myotubular myopathy 7901197
CSYL73 Glycogen storage disease type Ib 7901038
CSYL115 Mucolipidosis IV 7901057
CSYL1022 Niemann-Pick disease, SMPD1-associated 7901098
CSYL1001 Spinal muscular atrophy 7901089
CSYL2 ABCC8-related hyperinsulinism 7901000
CSYL37 CLN5-related neuronal ceroid lipofuscino 7901022
CSYL80 Hereditary fructose intolerance 7901044
CSYL87 Homocystinuria / Cystathionine beta-synt 7901046
CSYL132 PPT1-related neuronal ceroid lipofuscino 7901066
CSYL133 PROP1-related combined pituitary hormone 7901067
CSYL1021 Costeff optic atrophy syndrome 7901097
CSYL23 Limb-girdle muscular dystrophy type 2E 7901012
CSYL1018 Primary carnitine deficiency 7901094
CSYL1199 X-linked severe combined immunodeficienc 7901176
CSYL1088 Alstrom syndrome 7901132
CSYL1175 ATP7A-related disorders 7901166
CSYL1086 COL4A3-related Alport syndrome 7901130
CSYL1122 Fabry disease 7901141
CSYL1131 GLDC-related glycine encephalopathy 7901145
CSYL1154 maple syrup urine disease type Ia 7901156
CSYL1156 methylmalonic acidemia, cblB type 7901158
CSYL1217 peroxisome biogenesis disorder type 5 7901188
CSYL1205 tyrosinemia type II 7901179
CSYL1209 USH1C-related disorders 7901182
CSYL1212 xeroderma pigmentosum group C 7901183
CSYL1087 X-linked Alport syndrome 7901131

Actual Epic build

Procedure Id 115433
Pdm 1559071
Order Display Name Foresight Universal PLUS Carrier with Fragile X
Procedure Name UNIVERSAL PLUS CARRIER W/FRX
Procedure Master Number LAB11559
Short Procedure Name UNIVERSAL PLUS CARRIER W/FRX
Category Code 15.0
Category Code Record Name LAB CYTOGENETICS ORDERABLES
Synonyms UCSPFRX UNIVERSAL PLUS CARRIER W/FRX
Clinically Active
Orderable
Performable
Filter Genomics Generic Genomics Procedure
Reference Link Url https://labs.northwell.edu/epic/test/115433
Ordering Instructions
Default Specimen Type Blood
Specimen Type Pick List Blood
Specimen Type List
Op Specimen Type List
Specimen Source Pick List Blood, Arterial Blood, Capillary Blood, Central Line Blood, Venous
Specimen Source Default - Male
Specimen Source Default - Female
Specimen Source List
Op Specimen Source List
Ip Lab Test Components For Report
Op Lab Test Components For Report
Order Questions ["3048500036", "3048500003", "3048500004", "3045300090", "3045300091", "3045300092", "3048500000"]
Order Questions Record Name NH IP ETHNICITY CUSTOM LIST NH IP PREGNANCY STATUS NH IP PATIENTS EMAIL ADDRESS NH IP FAMILY HISTORY OR PRIOR TESTING (FREE TEXT) NH IP PARTNERS FULL NAME NH IP PARTNERS DATE OF BIRTH
Inpatient Order Questions ["3048500036", "3048500003", "3048500004", "3045300090", "3045300091", "3045300092", "3048500000"]
Inpatient Order Questions Record Name NH IP ETHNICITY CUSTOM LIST NH IP PREGNANCY STATUS NH IP PATIENTS EMAIL ADDRESS NH IP FAMILY HISTORY OR PRIOR TESTING (FREE TEXT) NH IP PARTNERS FULL NAME NH IP PARTNERS DATE OF BIRTH
Order Specific Question Override
Inpatient Question Override
Location Restrict List Ip
Location Restrict List Ip Record Name
Location Restrict List Include Ip
Location Restrict List Op
Location Restrict List Op Record Name
Location Restrict List Includes Op
Edp Amb Order Specific Questions Record Name NH IP PATIENT COMPLETED CONSENT
Edp Ip Order Specific Questions Record Name NH IP PATIENT COMPLETED CONSENT
Edp Ip Specimen Source
Edp Op Specimen Source
Edp Ip Specimen Type
Edp Op Specimen Type
Derived Edp Ip Buttons S
Derived Edp Ip Buttons T
Derived Edp Op Buttons S
Derived Edp Op Buttons T
Ip Orderable 1
Op Orderable 1
EPIC OP AOEs

Question IDQuestion NameQuestionResponse TypeResponse ListRequire Response
3045300090 NH IP FAMILY HISTORY OR PRIOR TESTING (FREE TEXT) Family History or Prior Testing Free Text No
3045300091 NH IP PARTNERS FULL NAME Partner's Full Name Free Text No
3045300092 NH IP PARTNERS DATE OF BIRTH Partner's Date of Birth Date No
3048500000 NH IP PATIENT COMPLETED CONSENT Patient completed consent? Yes/No Yes
3048500003 NH IP PREGNANCY STATUS Pregnancy Status Custom List Yes
No
Probable
No
3048500004 NH IP PATIENTS EMAIL ADDRESS Patient's Email Address Free Text No
3048500036 NH IP ETHNICITY CUSTOM LIST
EPIC IP AOEs

Question IDQuestion NameQuestionResponse TypeResponse ListRequire Response
3045300090 NH IP FAMILY HISTORY OR PRIOR TESTING (FREE TEXT) Family History or Prior Testing Free Text No
3045300091 NH IP PARTNERS FULL NAME Partner's Full Name Free Text No
3045300092 NH IP PARTNERS DATE OF BIRTH Partner's Date of Birth Date No
3048500000 NH IP PATIENT COMPLETED CONSENT Patient completed consent? Yes/No Yes
3048500003 NH IP PREGNANCY STATUS Pregnancy Status Custom List Yes
No
Probable
No
3048500004 NH IP PATIENTS EMAIL ADDRESS Patient's Email Address Free Text No
3048500036 NH IP ETHNICITY CUSTOM LIST
EPIC Components (results)

Component IDComponent NameBase NameCommon NameExternal NameCerner Result PDM
3047805417.0 CARTILAGE-HAIR HYPOPLASIA RESULT CARTHYPO CARTILAGE-HAIR HYPOPLASIA RESULT 7901018
3047804872.0 SULFATE TRANSPORTER-RELATED OSTEOCHONDRO SULTRAOSTEO SULFATE TRANSPORTER-RELATED OSTEOCHONDRO 7901073
3047805611.0 PENDRED SYNDROME RESULT PENDREDSYN PENDREDSYN, RESULT 7901062
3047805540.0 ISOVALERIC ACIDEMIA RESULT ISOVALERIC ISOVALERIC ACIDEMIA RESULT 7901049
3047802417.0 FANCONI ANEMIA TYPE C FANCONIANTPC FANCONI ANEMIA TYPE C 7901032
3047804254.0 PRIMARY HYPEROXALURIA TYPE 2 PRHYTY2 PRIMARY HYPEROXALURIA TYPE 2 7901048
3047802849.0 HJE BULLOSA, LAMB3-RELATED JUEPBULLAMB3 HJE BULLOSA, LAMB3-RELATED 7901086
3047805419.0 CEREBROTENDINOUS XANTHOMATOSIS RESULT CERBROTEND CEREBROTENDINOUS XANTHOMATOSIS RESULT 7901136
3047805521.0 HYDROLETHALUS SYNDROME RESULT HYDROSYN HYDROLETHALUS SYNDROME RESULT 7901149
3047805575.0 MUCOLIPIDOSIS III GAMMA RESULT MUCOLIPGAM MUCOLIPGAM, RESULT 7901163
3047803635.0 MUCOPOLYSACCHARIDOSIS TYPE IIIC MUCOPOLYSAC MUCOPOLYSACCHARIDOSIS TYPE IIIC 7901175
3047803663.0 MUT-RELATED METHYLMALONIC ACIDEMIA METHYLMALAC MUT-RELATED METHYLMALONIC ACIDEMIA 7901161
3047804029.0 PEROXISOME BIOGENESIS DISORDER TYPE 3 PEBIODISTY3 PEBIODISTY3 7901187
3047804030.0 PEROXISOME BIOGENESIS DISORDER TYPE 4 PEBIDISTY4 PEBIDISTY4 7901186
3047804790.0 SPASTIC PARAPLEGIA TYPE 15 SPASPARA15 SPASTIC PARAPLEGIA TYPE 15 7901177
3047805658.0 SPONDYLOTHORACIC DYSOSTOSIS RESULT SPONDDYS SPONDDYS, RESULT 7901178
3047805044.0 TPP1-RELATED NEURONAL CEROID LIPOFUSCINO TPP1NEURCER TPP1-RELATED NEURONAL CEROID LIPOFUSCINO 7901074
3047805403.0 BIOTINIDASE DEFICIENCY RESULT BIOTINIDASE BIOTINIDASE DEFICIENCY RESULT 7901013
3047805413.0 CANAVAN DISEASE RESULT CANAVAN CANAVAN DISEASE RESULT 7901015
3047801179.0 ARSACS ARSACS ARSACS 7901007
3047805396.0 BARDET-BIEDL SYNDROME, BBS1-RELATED RESULT BBS1 BARDET-BIEDL SYNDROME, BBS1-RELATED RESULT 7901083
3047804209.0 POLYGLANDULAR AUTOIMMUNE SYNDROME TYPE 1 POLYGLANDTY1 POLYGLANDULAR AUTOIMMUNE SYNDROME TYPE 1 7901011
3047801646.0 CARNITINE PALMITOYLTRANSFERASE II DEFICI CPTDEF CARNITINE PALMITOYLTRANSFERASE II DEFICI 7901017
3047802591.0 GJB2-RELATED DFNB1 NONSYNDROMIC HEARING GJBREDNON GJB2-RELATED DFNB1 NONSYNDROMIC HEARING 7901035
3047805549.0 LIPOAMIDE DEHYDROGENASE DEFICIENCY RESULT LDD LIPOAMIDE DEHYDROGENASE DEFICIENCY RESULT 7901051
3047803444.0 METACHROMATIC LEUKODYSTROPHY METALEUKO METACHROMATIC LEUKODYSTROPHY 7901056
3047805583.0 NIJMEGEN BREAKAGE SYNDROME RESULT NIJMEGEN NIJMEGEN, RESULT 7901061
3047805648.0 SJOGREN-LARSSON SYNDROME RESULT SJOG SJOG, RESULT 7901071
3047804567.0 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYP RHCHPUTY RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYP 7901069
3047804037.0 PEX1-RELATED ZELLWEGER SYNDROME SPECTRUM NTRAZELLWEGE PEX1-RELATED ZELLWEGER SYNDROME SPECTRUM 7901081
3047800873.0 ADENOSINE DEAMINASE DEFICIENCY ADDEF ADDEF 7901127
3047801172.0 ARGININEMIA ARGININEMIA ARGININEMIA 7901133
3047801222.0 AUTOSOMAL RECESSIVE OSTEOPETROSIS TYPE 1 AUTOROT1 AUTOSOMAL RECESSIVE OSTEOPETROSIS TYPE 1 7901168
3047802246.0 DYSFERLINOPATHY DYSKERATCON DYSFERLINOPATHY 7901123
3047802249.0 DYSTROPHINOPATHY (INCLUDING DUCHENNE/BEC DYSTRODUCH DYSTROPHINOPATHY (INCLUDING DUCHENNE/BEC 7901139
3047802336.0 ERCC8-RELATED DISORDERS ERCC8 ERCC8-RELATED DISORDERS 7901195
3047802376.0 EVC2-RELATED ELLIS-VAN CREVELD SYNDROME EVC2 EVC2-RELATED ELLIS-VAN CREVELD SYNDROME 7901191
3047802416.0 FANCONI ANEMIA COMPLEMENTATION GROUP A FANCONIANC FANCONI ANEMIA COMPLEMENTATION GROUP A 7901143
3047805547.0 LEIGH SYNDROME, FRENCH-CANADIAN TYPE RESULT LEIGHSYN LEIGH SYNDROME, FRENCH-CANADIAN TYPE RESULT 7901199
3047803397.0 MAPLE SYRUP URINE DISEASE TYPE II MAPLEUR MAPLE SYRUP URINE DISEASE TYPE II 7901155
3047803500.0 METHYLMALONIC ACIDEMIA, CBLA TYPE METHYLACID METHYLMALONIC ACIDEMIA, CBLA TYPE 7901160
3047803632.0 MUCOPOLYSACCHARIDOSIS TYPE II MUCOPOLYSAC MUCOPOLYSACCHARIDOSIS TYPE II 7901148
3047804392.0 PYRUVATE CARBOXYLASE DEFICIENCY PYCARDEF PYRUVATE CARBOXYLASE DEFICIENCY 7901172
3047805458.0 D-BIFUNCTIONAL PROTEIN DEFICIENCY RESULT DBIFUNCPROT D-BIFUNCTIONAL PROTEIN DEFICIENCY RESULT 7901063
3047802801.0 HEXOSAMINIDASE A DEFICIENCY HEXOADEF HEXOSAMINIDASE A DEFICIENCY 7901099
3047805392.0 BARDET-BIEDL SYNDROME, BBS10-RELATED RESULT BBS10 BARDET-BIEDL SYNDROME, BBS10-RELATED RESULT 7901084
3047805388.0 ATAXIA WITH VITAMIN E DEFICIENCY RESULT ATAXIAVITE ATAXIA WITH VITAMIN E DEFIENCY RESULT 7901009
3047804253.0 PRIMARY HYPEROXALURIA TYPE 1 PRHYTY1 PRIMARY HYPEROXALURIA TYPE 1 7901047
3047805650.0 SMITH-LEMLI-OPITZ SYNDROME RESULT SLOS SLOS, RESULT 7901072
3047805545.0 KRABBE DISEASE RESULT KRABBE KRABBE DISEASE RESULT 7901050
3047800805.0 6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE DEF 6PYRUTETASYD 6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE (PTPS) DEFICIENCY 7901126
3047802377.0 EVC-RELATED ELLIS-VAN CREVELD SYNDROME EVC EVC-RELATED ELLIS-VAN CREVELD SYNDROME 7901190
3047802475.0 FKRP-RELATED DISORDERS FKRPRTDO FKRP-RELATED DISORDERS 7901121
3047802592.0 GLB1-RELATED DISORDERS GLBREDIS GLB1-RELATED DISORDERS 7901146
3047802887.0 HMG-COA LYASE DEFICIENCY HMGCOLYDEF HMG-COA LYASE DEFICIENCY 7901125
3047803687.0 MYO7A-RELATED DISORDERS MYO7A MYO7A-RELATED DISORDERS 7901181
3047803743.0 NIEMANN-PICK DISEASE TYPE C2 NIEMPICKC2 NIEMANN-PICK DISEASE TYPE C2 7901165
3047805596.0 ORNITHINE TRANSCARBAMYLASE DEFICIENCY RESULT OTD OTD, RESULT 7901167
3047803987.0 PCCB-RELATED PROPIONIC ACIDEMIA PCCBPROACI PCCB-RELATED PROPIONIC ACIDEMIA 7901171
3047804032.0 PEROXISOME BIOGENESIS DISORDER TYPE 6 PEBIDISTY6 PEBIDISTY6 7901185
3047804605.0 RTEL1-RELATED DISORDERS RTEL1RELDIS RTEL1-RELATED DISORDERS 7901140
3047805406.0 BLOOM SYNDROME RESULT BLOOMSYN BLOOM SYNDROME RESULT 7901014
3047805386.0 ASPARTYLGLYCOSAMINURIA RESULT ASPARTYLGLYO ASPARTYLGLYCOSAMINURIA RESULT 7901008
3047805642.0 SALLA DISEASE RESULT SALLADIS SALLADIS, RESULT 7901033
3047803395.0 MAPLE SYRUP URINE DISEASE TYPE 1B MAPLEUR MAPLE SYRUP URINE DISEASE TYPE 1B 7901053
3047802850.0 HJE BULLOSA, LAMC2-RELATED JUEPIBULAMC2 HJE BULLOSA, LAMC2-RELATED 7901087
3047803707.0 NEB-RELATED NEMALINE MYOPATHY NEMALMYO NEB-RELATED NEMALINE MYOPATHY 7901091
3047803655.0 MUSCLE-EYE-BRAIN DISEASE MUSEYEDIS MUSCLE-EYE-BRAIN DISEASE 7901059
3047802633.0 GLYCOGEN STORAGE DISEASE TYPE III NTRAGSDT3 GLYCOGEN STORAGE DISEASE TYPE III 7901040
3047804211.0 POMPE DISEASE POMDIS POMPE DISEASE 7901039
3047803419.0 MEDIUM CHAIN ACYL-COA DEHYDROGENASE DEFI ACYLCOA MEDIUM CHAIN ACYL-COA DEHYDROGENASE DEFI 7901054
3047805508.0 GRACILE SYNDROME RESULT GRACILE GRACILE SYNDROME RESULT 7901043
3047801175.0 ARGININOSUCCINIC ACIDURIA ARGINACI ARGINACI 7901198
3047801624.0 CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIEN CPSDEF CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIEN 7901189
3047801972.0 CONGENITAL DISORDER OF GLYCOSYLATION TYP CONDOGLYCTYP CONGENITAL DISORDER OF GLYCOSYLATION TYP 7901196
3047802546.0 GAMMA-SARCOGLYCANOPATHY GAMSARC GAMMA-SARCOGLYCANOPATHY 7901152
3047805185.0 USH2A-RELATED DISORDERS USH2ADIS USH2A-RELATED DISORDERS 7901180
3047805295.0 XERODERMA PIGMENTOSUM GROUP A XEPIGGRPA XERODERMA PIGMENTOSUM GROUP A 7901184
3047805304.0 X-LINKED CONGENITAL ADRENAL HYPOPLASIA XLIADHYPCON X-LINKED CONGENITAL ADRENAL HYPOPLASIA 7901193
3047802848.0 HJE BULLOSA, LAMA3-RELATED JUNEPIBULAM3 HJE BULLOSA, LAMA3-RELATED 7901085
3047801970.0 CONGENITAL DISORDER OF GLYCOSYLATION LA CONDOGLYCLA CONGENITAL DISORDER OF GLYCOSYLATION LA 7901025
3047805502.0 GALACTOSEMIA RESULT GALACTOSEMIA GALACTOSEMIA RESULT 7901082
3047801971.0 CONGENITAL DISORDER OF GLYCOSYLATION LB CONDOGLYCLB CONGENITAL DISORDER OF GLYCOSYLATION LB 7901026
3047802620.0 GLUTARIC ACIDEMIA TYPE 1 NTRAGLUCOADE GLUTARIC ACIDEMIA TYPE 1 7901036
3047802960.0 HURLER SYNDROME NTRAMUCTYPEI HURLER SYNDROME 7901058
3047805693.0 WILSON DISEASE RESULT WILSONDIS WILSONDIS, RESULT 7901079
3047805226.0 VERY LONG CHAIN ACYL-COA DEHYDROGENASE D VERYLONG VERY LONG CHAIN ACYL-COA DEHYDROGENASE D 7901095
3047805688.0 WALKER-WARBURG SYNDROME RESULT WWSYND WWSYND, RESULT 7901118
3047805454.0 CYSTIC FIBROSIS RESULT CYSTICFIB CYSTIC FIBROSIS RESULT 7901019
3047803800.0 NORTHERN EPILEPSY EPILEPSY NORTHERN EPILEPSY 7901023
3047804727.0 SHORT CHAIN ACYL-COA DEHYDROGENASE DEFIC SHCHACYLCOA SHORT CHAIN ACYL-COA DEHYDROGENASE DEFIC 7901070
3047805686.0 USHER SYNDROME TYPE 3 RESULT USHERSYND USHERSYND, RESULT 7901077
3047805305.0 X-LINKED JUVENILE RETINOSCHISIS XLIJUVRET X-LINKED JUVENILE RETINOSCHISIS 7901080
3047805525.0 INCLUSION BODY MYOPATHY 2 RESULT IBM2 INCLUSION BODY MYOPATHY 2 RESULT 7901042
3047803422.0 MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH MEGLEUKENCE MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH 7901055
3047800757.0 11-BETA-HYDROXYLASE-DEFICIENT CONGENITAL 11BETAHYDECO 11-BETA-HYDROXYLASE-DEFICIENT CONGENITAL 7901124
3047805398.0 BARDET-BIEDL SYNDROME, BBS2-RELATED RESULT BBS2 BARDET-BIEDL SYNDROME, BBS2-RELATED RESULT 7901134
3047805500.0 GALACTOKINASE DEFICIENCY RESULT GALACTODEF GALACTOKINASE DEFICIENCY RESULT 7901192
3047803539.0 MKS1-RELATED DISORDERS MKS1 MKS1-RELATED DISORDERS 7901157
3047804255.0 PRIMARY HYPEROXALURIA TYPE 3 PRHYTY3 PRIMARY HYPEROXALURIA TYPE 3 7901169
3047805644.0 SANDHOFF DISEASE RESULT SANDHOFF SANDHOFF, RESULT 7901173
3047804947.0 TGM1-RELATED AUTOSOMAL RECESSIVE CONGENI TGM1 TGM1-RELATED AUTOSOMAL RECESSIVE CONGENI 7901151
3047805302.0 X-LINKED ADRENOLEUKODYSTROPHY XLIADRENO X-LINKED ADRENOLEUKODYSTROPHY 7901128
3047803742.0 NIEMANN-PICK DISEASE TYPE C NIEMPICKC NIEMANN-PICK DISEASE TYPE C 7901060
3047805622.0 PYCNODYSOSTOSIS RESULT PYCNODY PYCNODY, RESULT 7901068
3047805382.0 ANDERMANN SYNDROME RESULT ANDERMANN ANDERMANN SYNDROME RESULT 7901002
3047805456.0 CYSTINOSIS RESULT CYSTINOSIS CYSTINOSIS RESULT 7901028
3047801811.0 CITRULLINEMIA TYPE 1 CITRULLINEMI CITRULLINEMIA TYPE 1 7901093
3047805390.0 ATAXIA-TELANGIECTASIA RESULT ATAXIATELAN ATAXIA-TELANGIECTASIA RESULT 7901010
3047805440.0 CONGENITAL FINNISH NEPHROSIS RESULT CONGFINNISH CONGENITAL FINNISH NEPHROSIS RESULT 7901027
3047805684.0 USHER SYNDROME TYPE 1F RESULT USHERSYND USHERSYND, RESULT 7901078
3047805660.0 STEROID-RESISTANT NEPHROTIC SYNDROME RESULT SRNS SRNS, RESULT 7901096
3047805542.0 JOUBERT SYNDROME 2 RESULT JOUBERTSY2 JOUBERT SYNDROME 2 RESULT 7901092
3047802985.0 HYPOPHOSPHATASIA, AUTOSOMAL RECESSIVE HYPOPHOSREC HYPOPHOSPHATASIA, AUTOSOMAL RECESSIVE 7901088
3047802704.0 HB BETA CHAIN-RELATED HEMOGLOBINOPATHY HEMOGBETHB HB BETA CHAIN-RELATED HEMOGLOBINOPATHY 7901100
3047802631.0 GLYCOGEN STORAGE DISEASE TYPE IA GLYSTODITYLA GLYCOGEN STORAGE DISEASE TYPE IA 7901037
3047805551.0 LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENA RESULT LONGCHAIN3 LONG CHAIN 3-HYDROXYACYL-COA-DEHYDROGENA RESULT 7901052
3047801223.0 AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DI AUTORPKD AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DI 7901065
3047805477.0 FAMILIAL DYSAUTONOMIA RESULT FAMDYSA FAMILIAL DYSAUTONOMIA RESULT 7901030
3047801847.0 CLN3-RELATED NEURONAL CEROID LIPOFUSCINO CLNRNCL CLN3-RELATED NEURONAL CEROID LIPOFUSCINO 7901021
3047804681.0 SEGAWA SYNDROME SEGSYND SEGAWA SYNDROME 7901075
3047801034.0 AMT-RELATED GLYCINE ENCEPHALOPATHY AMTRGE AMT-RELATED GLYCINE ENCEPHALOPATHY 7901144
3047805394.0 BARDET-BIEDL SYNDROME, BBS12-RELATED RESULT BBS12 BARDET-BIEDL SYNDROME, BBS12-RELATED RESULT 7901135
3047801603.0 CALPAINOPATHY CALPAIN CALPAINOPATHY 7901153
3047801849.0 CLN6-RELATED NEURONAL CEROID LIPOFUSCINO CLNRNCL CLN6-RELATED NEURONAL CEROID LIPOFUSCINO 7901164
3047801915.0 COL4A4-RELATED ALPORT SYNDROME COLRAS COL4A4-RELATED ALPORT SYNDROME 7901129
3047802118.0 DELTA-SARCOGLYCANOPATHY DELTASARCO DELTA-SARCOGLYCANOPATHY 7901154
3047802335.0 ERCC6-RELATED DISORDERS ERCC6 ERCC6-RELATED DISORDERS 7901194
3047803182.0 KCNJ11-RELATED FAMILIAL HYPERINSULINISM HYPERINSUL KCNJ11-RELATED FAMILIAL HYPERINSULINISM 7901142
3047803302.0 LIPOID CONGENITAL ADRENAL HYPERPLASIA LIPCONADRH LIPOID CONGENITAL ADRENAL HYPERPLASIA 7901138
3047803364.0 LYSOSOMAL ACID LIPASE DEFICIENCY LYSOSOMALAC LYSOSOMAL ACID LIPASE DEFICIENCY 7901137
3047803504.0 METHYLMALONIC ACIDURIA AND HOMOCYSTINURI METHYLACID METHYLMALONIC ACIDURIA AND HOMOCYSTINURI 7901159
3047803634.0 MUCOPOLYSACCHARIDOSIS TYPE IIIB MUCOPOLYSAC MUCOPOLYSACCHARIDOSIS TYPE IIIB 7901174
3047803986.0 PCCA-RELATED PROPIONIC ACIDEMIA PCCAPROACI PCCA-RELATED PROPIONIC ACIDEMIA 7901170
3047800948.0 ALPHA THALASSEMIA ATHALASS ALPHA-THALASSEMIA 7901120
3047801964.0 CONGENITAL ADRENAL HYPERPLASIA CONGADNHY CONGENITAL ADRENAL HYPERPLASIA 7901119
3047805496.0 FRAGILE X SYNDROME RESULT FRAGILEX FRAGILE X SYNDROME RESULT 7901108
3047801644.0 CARNITINE PALMITOYLTRANSFERASE IA DEFICI CPTDEF CARNITINE PALMITOYLTRANSFERASE IA DEFICI 7901016
3047805370.0 ALPHA-MANNOSIDOSIS RESULT AMANNOSID ALPHA-MANNOSIDOSIS RESULT 7901005
3047803284.0 LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2D MUSCDYST2D LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2D 7901006
3047805482.0 FAMILIAL MEDITERRANEAN FEVER RESULT FAMMED FAMILIAL MEDITERRANEAN FEVER RESULT 7901031
3047805145.0 TYROSINEMIA TYPE I TYROTY1 TYROSINEMIA TYPE I 7901076
3047804076.0 PHENYLALANINE HYDROXYLASE DEFICIENCY PHHYDEF PHENYLALANINE HYDROXYLASE DEFICIENCY 7901064
3047805504.0 GAUCHER DISEASE RESULT GAUCHER GAUCHER DISEASE RESULT 7901034
3047805431.0 COHEN SYNDROME RESULT COHENSYN COHEN SYNDROME RESULT 7901024
3047802644.0 GNPTAB-RELATED DISORDERS GNPTABREDIS GNPTAB-RELATED DISORDERS 7901162
3047805517.0 HOLOCARBOXYLASE SYNTHETASE DEFICIENCY RESULT HSD HOLOCARBOXYLASE SYNTHETASE DEFICIENCY RESULT 7901147
3047803210.0 LAMA2-RELATED MUSCULAR DYSTROPHY MUSCDYST LAMA2-RELATED MUSCULAR DYSTROPHY 7901150
3047803633.0 MUCOPOLYSACCHARIDOSIS TYPE IIIA MUCOPOLYSAC MUCOPOLYSACCHARIDOSIS TYPE IIIA 7901122
3047805306.0 X-LINKED MYOTUBULAR MYOPATHY XLIMYTUBMYO X-LINKED MYOTUBULAR MYOPATHY 7901197
3047802632.0 GLYCOGEN STORAGE DISEASE TYPE IB GLYSTODITYLB GLYCOGEN STORAGE DISEASE TYPE IB 7901038
3047803629.0 MUCOLIPIDOSIS IV MUCOLIPID MUCOLIPIDOSIS IV 7901057
3047803744.0 NIEMANN-PICK DISEASE, SMPD1-ASSOCIATED NIEMPICKSMPD NIEMANN-PICK DISEASE, SMPD1-ASSOCIATED 7901098
3047805656.0 SPINAL MUSCULAR ATROPHY SMA SMA, ATROPHY 7901089
3047800824.0 ABCC8-RELATED HYPERINSULINISM ABCC8RHYP ABCC8-RELATED HYPERINSULINISM 7901000
3047801848.0 CLN5-RELATED NEURONAL CEROID LIPOFUSCINO CLNRNCL CLN5-RELATED NEURONAL CEROID LIPOFUSCINO 7901022
3047805512.0 HEREDITARY FRUCTOSE INTOLERANCE RESULT HEREDFRUC HEREDITARY FRUCTOSE INTOLERANCE RESULT 7901044
3047802896.0 HOMOCYSTINURIA / CYSTATHIONINE BETA-SYNT HOMOCYSUR HOMOCYSTINURIA / CYSTATHIONINE BETA-SYNT 7901046
3047804230.0 PPT1-RELATED NEURONAL CEROID LIPOFUSCINO PPT1NECELI PPT1-RELATED NEURONAL CEROID LIPOFUSCINO 7901066
3047804279.0 PROP1-RELATED COMBINED PITUITARY HORMONE COPIHODEFPR1 PROP1-RELATED COMBINED PITUITARY HORMONE 7901067
3047802000.0 COSTEFF OPTIC ATROPHY SYNDROME COSTEFFOP COSTEFF OPTIC ATROPHY SYNDROME 7901097
3047803285.0 LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2E MUSCDYST2E LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2E 7901012
3047804249.0 PRIMARY CARNITINE DEFICIENCY PRCADEF PRIMARY CARNITINE DEFICIENCY 7901094
3047805307.0 X-LINKED SEVERE COMBINED IMMUNODEFICIENC XLISECCOMIMM X-LINKED SEVERE COMBINED IMMUNODEFICIENC 7901176
3047805374.0 ALSTROM SYNDROME RESULT ALSTROM ALSTROM SYNDROME RESULT 7901132
3047801214.0 ATP7A-RELATED DISORDERS ATP7ARD ATP7A-RELATED DISORDERS 7901166
3047801914.0 COL4A3-RELATED ALPORT SYNDROME COLRAS COL4A3-RELATED ALPORT SYNDROME 7901130
3047805473.0 FABRY DISEASE RESULT FABRY FABRY DISEASE RESULT 7901141
3047802593.0 GLDC-RELATED GLYCINE ENCEPHALOPATHY GLYENCGLDCRE GLDC-RELATED GLYCINE ENCEPHALOPATHY 7901145
3047803396.0 MAPLE SYRUP URINE DISEASE TYPE IA MAPLEUR MAPLE SYRUP URINE DISEASE TYPE IA 7901156
3047803501.0 METHYLMALONIC ACIDEMIA, CBLB TYPE METHYLACID METHYLMALONIC ACIDEMIA, CBLB TYPE 7901158
3047804031.0 PEROXISOME BIOGENESIS DISORDER TYPE 5 PEBIODITY5 PEBIODITY5 7901188
3047805146.0 TYROSINEMIA TYPE II TYROTY2 TYROSINEMIA TYPE II 7901179
3047805184.0 USH1C-RELATED DISORDERS USH1CDIS USH1C-RELATED DISORDERS 7901182
3047805296.0 XERODERMA PIGMENTOSUM GROUP C XEPIGGRPC XERODERMA PIGMENTOSUM GROUP C 7901183
3047805303.0 X-LINKED ALPORT SYNDROME XLIALSYN X-LINKED ALPORT SYNDROME 7901131