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Krisswallperishhisoton

This version was saved 14 years, 8 months ago View current version     Page history
Saved by Katlatze
on July 5, 2009 at 12:20:18 pm
 

Krisswallperishhison

 

We have limited information on this person...but from our spies and [Mostly] Kat, we have gathered that Krisswall's Full name is Krisswallperishisomethylglutamatecholorokeneticthermochronichectahedronisomnaticoxide after a chemical he manufactures from his basement.

 

~EDIT~ Kat added 'Penis' to my chemical name >_>. IT IS OBVIOUS SHE LOVEESSS PENISES.

 

It is known that he is a cannibal to Kat's cupcake family, having eating over 500 cupcakes in his life, and thus he has a 100,000$ bounty placed on his severed head. It is clear from our sources that he has an affinity to commenting pointlessly on random Wiki pages, and creating and editing random posts without permission.

 

Krisswall's original name was Krissped, but was scrapped due to it having the same starting letter and length as Katringa. He is now known as Kriss or Krisswall. Krisswall earned his 'Respected' Status after only 2 visits, and such a extravagant accomplishment suggests he has inner ties within Nebcorp itself.

 

Krisswall's mind is very unstable, as it is suffering from A.D.H.D, E.D, H.I.V, A.I.D.S, N.O.M, G.L.A. deficiency, N.B.I.A.1, R.S.T.S, type 1 S.M.E.D, S.M.D. syndrome, Dyslexia, and O.C.D at the same time. [1] He has developed a mature mind-space and thinks everything out logically and methodically. He has read the dictionary a few times to keep his Dyslexia at a mild level, which is a feat well accomplished.

He is also suspected to have one or more of the following: 

 

Disorder Mutation Chromosome
Retarded Everywhere Everything.

 

Jake however;

 

Disorder Mutation Chromosome
22q11.2 deletion syndrome D 22q
Angelman syndrome DCP 15
Canavan disease   17p
Celiac disease    
Charcot-Marie-Tooth disease    
Color blindness P X
Cri du chat D 5
Cystic fibrosis P 7q
Down syndrome C 21
Duchenne muscular dystrophy D Xp
Haemophilia P X
Klinefelter syndrome C X
Neurofibromatosis   17q/22q/?
Phenylketonuria P 12q
Prader-Willi syndrome DC 15
Sickle-cell disease P 11p
Tay-Sachs disease P 15
Turner syndrome C X

[edit] 0–9

Disorder Mutation Chromosome
1p36 deletion syndrome D 1p37
18p deletion syndrome D 18p
21-hydroxylase deficiency   6p21.3
45,X
see Turner syndrome
C X
47,XX,+21
see Down syndrome
C 21
47,XXX
see triple X syndrome
C X
47,XXY
see Klinefelter syndrome
C X
47,XY,+21
see Down syndrome
C 21
47,XYY syndrome C Y
5-ALA dehydratase-deficient porphyria
see ALA dehydratase deficiency
   
5-aminolaevulinic dehydratase deficiency porphyria
see ALA dehydratase deficiency
   
5p deletion syndrome
see Cri du chat
D 5p
5p- syndrome
see Cri du chat
D 5p

[edit] A

Disorder Mutation Chromosome
A-T
see ataxia-telangiectasia
   
AAT
see alpha-1 antitrypsin deficiency
   
Absence of vas deferens
see congenital bilateral absence of vas deferens
   
Absent vasa
see congenital bilateral absence of vas deferens
   
aceruloplasminemia    
ACG2
see achondrogenesis type II
   
ACH
see achondroplasia
   
Achondrogenesis type II    
achondroplasia substitution 4p16.3
Acid beta-glucosidase deficiency
see Gaucher disease type 1
   
Acrocephalosyndactyly (Apert)
see Apert syndrome
   
acrocephalosyndactyly, type V
see Pfeiffer syndrome
   
Acrocephaly
see Apert syndrome
   
Acute cerebral Gaucher's disease
see Gaucher disease type 2
   
acute intermittent porphyria    
ACY2 deficiency
see Canavan disease
   
AD
see Alzheimer's disease
   
Adelaide-type craniosynostosis
see Muenke syndrome
   
Adenomatous Polyposis Coli
see familial adenomatous polyposis
   
Adenomatous Polyposis of the Colon
see familial adenomatous polyposis
   
ADP
see ALA dehydratase deficiency
   
adenylosuccinate lyase deficiency    
Adrenal gland disorders
see 21-hydroxylase deficiency
   
Adrenogenital syndrome
see 21-hydroxylase deficiency
   
Adrenoleukodystrophy    
AIP
see acute intermittent porphyria
   
AIS
see androgen insensitivity syndrome
   
AKU
see alkaptonuria
   
ALA dehydratase porphyria
see ALA dehydratase deficiency
   
ALA-D porphyria
see ALA dehydratase deficiency
   
ALA dehydratase deficiency    
Alcaptonuria
see alkaptonuria
   
Alexander disease    
alkaptonuria    
Alkaptonuric ochronosis
see alkaptonuria
   
alpha-1 antitrypsin deficiency   14q32.1
alpha-1 proteinase inhibitor
see alpha-1 antitrypsin deficiency
  14q32.1
alpha-1 related emphysema
see alpha-1 antitrypsin deficiency
  14q32.1
Alpha-galactosidase A deficiency
see Fabry disease
P Xq22.1
ALS
see amyotrophic lateral sclerosis
   
Alstrom syndrome    
ALX
see Alexander disease
   
Alzheimer disease    
Alzheimer's disease
see Alzheimer disease
   
Amelogenesis Imperfecta    
Amino levulinic acid dehydratase deficiency
see ALA dehydratase deficiency
   
Aminoacylase 2 deficiency
see Canavan disease
   
amyotrophic lateral sclerosis    
Anderson-Fabry disease
see Fabry disease
P Xq22.1
androgen insensitivity syndrome    
Anemia    
Anemia, hereditary sideroblastic
see X-linked sideroblastic anemia
  X
Anemia, sex-linked hypochromic sideroblastic
see X-linked sideroblastic anemia
  X
Anemia, splenic, familial
see Gaucher disease
   
Angelman syndrome    
Angiokeratoma Corporis Diffusum
see Fabry's disease
P Xq22.1
Angiokeratoma diffuse
see Fabry's disease
   
Angiomatosis retinae
see von Hippel-Lindau disease
   
ANH1
see X-linked sideroblastic anemia
  X
APC resistance, Leiden type
see factor V Leiden thrombophilia
   
Apert syndrome    
AR deficiency
see androgen insensitivity syndrome
   
AR-CMT2
see Charcot-Marie-Tooth disease, type 2
   
Arachnodactyly
see Marfan syndrome
   
ARNSHL
see Nonsyndromic deafness#autosomal recessive
   
Arthro-ophthalmopathy, hereditary progressive
see Stickler syndrome#COL2A1
   
Arthrochalasis multiplex congenita
see Ehlers-Danlos syndrome#arthrochalasia type
   
AS
see Angelman syndrome
   
Asp deficiency
see Canavan disease
   
Aspa deficiency
see Canavan disease
   
Aspartoacylase deficiency
see Canavan disease
   
ataxia-telangiectasia    
Autism-Dementia-Ataxia-Loss of Purposeful Hand Use syndrome
see Rett syndrome
   
autosomal dominant juvenile ALS
see amyotrophic lateral sclerosis, type 4
   
Autosomal dominant opitz G/BBB syndrome
see 22q11.2 deletion syndrome
D 22q
autosomal recessive form of juvenile ALS type 3
see Amyotrophic lateral sclerosis#type 2
   
Autosomal recessive nonsyndromic hearing loss
see Nonsyndromic deafness#autosomal recessive
   
Autosomal Recessive Sensorineural Hearing Impairment and Goiter
see Pendred syndrome
   
AxD
see Alexander disease
   
Ayerza syndrome
see primary pulmonary hypertension
   

[edit] B

Disorder Mutation Chromosome
B variant of the Hexosaminidase GM2 gangliosidosis
see Sandhoff disease
   
BANF
see neurofibromatosis 2
   
Beare-Stevenson cutis gyrata syndrome   10q26
Benign paroxysmal peritonitis
see Mediterranean fever, familial
   
Benjamin syndrome    
beta thalassemia    
BH4 Deficiency
see tetrahydrobiopterin deficiency
   
Bilateral Acoustic Neurofibromatosis
see neurofibromatosis 2
   
biotinidase deficiency    
bladder cancer    
Bleeding disorders
see factor V Leiden thrombophilia
   
Bloch-Sulzberger syndrome
see incontinentia pigmenti
 
Bloom syndrome   15q26.1
Bone diseases    
Bone marrow diseases
see X-linked sideroblastic anemia
   
Bonnevie-Ullrich syndrome
see Turner syndrome
   
Bourneville disease
see tuberous sclerosis
   
Bourneville phakomatosis
see tuberous sclerosis
   
Brain diseases
see prion disease
   
breast cancer    
Birt-Hogg-Dubé syndrome   17
Brittle bone disease
see osteogenesis imperfecta
   
Broad Thumb-Hallux syndrome
see Rubinstein-Taybi syndrome
   
Bronze Diabetes
see hemochromatosis
   
Bronzed cirrhosis
see hemochromatosis
   
Bulbospinal muscular atrophy, X-linked
see Kennedy disease
   
Burger-Grutz syndrome
see lipoprotein lipase deficiency, familial
   

[edit] C

Disorder Mutation Chromosome
CADASIL P 3
CGD Chronic Granulomatous Disorder    
Camptomelic dysplasia C 17q24.3-q25.1
Canavan disease    
Cancer    
Cancer Family syndrome
see hereditary nonpolyposis colorectal cancer
   
Cancer of breast
see breast cancer
   
Cancer of the bladder
see bladder cancer
   
Carboxylase Deficiency, Multiple, Late-Onset
see biotinidase deficiency
P 3
Cardiomyopathy
see Noonan syndrome
   
Cat cry syndrome
see Cri du chat
   
CAVD
see congenital bilateral absence of vas deferens
   
Caylor cardiofacial syndrome
see 22q11.2 deletion syndrome
D 22q
CBAVD
see congenital bilateral absence of vas deferens
   
Celiac Disease    
CEP
see congenital erythropoietic porphyria
   
Ceramide trihexosidase deficiency
see Fabry disease
  X
Cerebelloretinal Angiomatosis, familial
see von Hippel-Lindau disease
P 3 (p26-p25)
Cerebral arteriopathy
with subcortical infarcts and leukoencephalopathy
see CADASIL
P 3
Cerebral autosomal dominant ateriopathy
with subcortical infarcts and leukoencephalopathy
see CADASIL
P 3
Cerebral sclerosis
see tuberous sclerosis
  9 (q34), 16 (p13.3)
Cerebroatrophic Hyperammonemia
see Rett syndrome
  X
Cerebroside Lipidosis syndrome
see Gaucher disease
P 1(q21)
CF
see cystic fibrosis
D (most common);
or substitution
CFTR (7q31.2)
CH
see congenital hypothyroidism
   
Charcot disease
see amyotrophic lateral sclerosis
   
Charcot-Marie-Tooth disease    
Chondrodystrophia
see achondroplasia
   
Chondrodystrophy syndrome
see achondroplasia
   
Chondrodystrophy with sensorineural deafness
see otospondylomegaepiphyseal dysplasia
   
Chondrogenesis imperfecta
see achondrogenesis, type II
   
Choreoathetosis self-mutilation hyperuricemia syndrome
see Lesch-Nyhan syndrome
P X
Classic Galactosemia
see galactosemia
P 9 (p13)
Classical Ehlers-Danlos syndrome
see Ehlers-Danlos syndrome#classical type
   
Classical Phenylketonuria
see phenylketonuria
   
Cleft lip and palate
see Stickler syndrome
   
Cloverleaf skull with thanatophoric dwarfism
see Thanatophoric dysplasia#type 2
   
CLS
see Coffin-Lowry syndrome
   
CMT
see Charcot-Marie-Tooth disease
   
Cockayne syndrome    
Coffin-Lowry syndrome    
collagenopathy, types II and XI    
Colon Cancer, familial Nonpolyposis
see hereditary nonpolyposis colorectal cancer
   
Colon cancer, familial
see familial adenomatous polyposis
   
Colorectal Cancer    
Complete HPRT deficiency
see Lesch-Nyhan syndrome
   
Complete hypoxanthine-guanine phosphoribosy transferase deficiency
see Lesch-Nyhan syndrome
   
Compression neuropathy
see hereditary neuropathy with liability to pressure palsies
   
Congenital adrenal hyperplasia
see 21-hydroxylase deficiency
   
congenital bilateral absence of vas deferens
see Congenital absence of the vas deferens
   
Congenital erythropoietic porphyria    
Congenital heart disease    
Congenital hypomyelination
see Charcot-Marie-Tooth disease#Type 1
see Charcot-Marie-Tooth disease#Type 4
   
Congenital hypothyroidism    
Congenital methemoglobinemia
see Methemoglobinemia#Congenital methaemoglobinaemia
   
Congenital osteosclerosis
see achondroplasia
   
Congenital sideroblastic anaemia
see X-linked sideroblastic anemia
  X
Connective tissue disease    
Conotruncal anomaly face syndrome
see 22q11.2 deletion syndrome
D 22q
Cooley's Anemia
see beta thalassemia
   
Copper storage disease
see Wilson disease
  13 (q14.3)
Copper transport disease
see Menkes disease
   
Coproporphyria, hereditary
see hereditary coproporphyria
   
Coproporphyrinogen oxidase deficiency
see hereditary coproporphyria
   
Cowden syndrome    
CPO deficiency
see hereditary coproporphyria
   
CPRO deficiency
see hereditary coproporphyria
   
CPX deficiency
see hereditary coproporphyria
   
Craniofacial dysarthrosis
see Crouzon syndrome
   
Craniofacial Dysostosis
see Crouzon syndrome
   
Cretinism
see congenital hypothyroidism
   
Creutzfeldt-Jakob disease
see prion disease
   
Cri du chat D 5p
Crohn's disease, fibrostenosing P 16q12
Crouzon syndrome   FGFR2 (10q25.3-q26)
Crouzon syndrome with acanthosis nigricans
see Crouzonodermoskeletal syndrome
   
Crouzonodermoskeletal syndrome    
CS
see Cockayne syndrome
see Cowden syndrome
   
Curschmann-Batten-Steinert syndrome
see myotonic dystrophy
   
cutis gyrata syndrome of Beare-Stevenson
see Beare-Stevenson cutis gyrata syndrome
   

[edit] D

Disorder Mutation Chromosome
D-glycerate dehydrogenase deficiency
see hyperoxaluria, primary
   
Dappled metaphysis syndrome
see spondyloepimetaphyseal dysplasia, Strudwick type
   
DAT - Dementia Alzheimer's type
see Alzheimer disease
 
Genetic hypercalciuria
see Dent's disease
  Xp11.22
DBMD
see muscular dystrophy, Duchenne and Becker types
   
Deafness with goiter
see Pendred syndrome
   
Deafness-retinitis pigmentosa syndrome
see Usher syndrome
   
Deficiency disease, Phenylalanine Hydroxylase
see phenylketonuria
P 12q
Degenerative nerve diseases    
de Grouchy syndrome 1
see De Grouchy Syndrome
D 18p
Dejerine-Sottas syndrome
see Charcot-Marie-Tooth disease
   
Delta-aminolevulinate dehydratase deficiency porphyria
see ALA dehydratase deficiency
   
Dementia
see CADASIL
   
demyelinogenic leukodystrophy
see Alexander disease
   
Dermatosparactic type of Ehlers-Danlos syndrome
see Ehlers-Danlos syndrome#dermatosparaxis type
   
Dermatosparaxis
see Ehlers-Danlos syndrome#dermatosparaxis type
   
developmental disabilities    
dHMN
see Amyotrophic lateral sclerosis#type 4
   
DHMN-V
see distal spinal muscular atrophy, type V
   
DHTR deficiency
see androgen insensitivity syndrome
  X
Diffuse Globoid Body Sclerosis
see Krabbe disease
   
DiGeorge syndrome D 22q
Dihydrotestosterone receptor deficiency
see androgen insensitivity syndrome
  X
distal spinal muscular atrophy, type V    
DM1
see Myotonic dystrophy#type 1
T 19
DM2
see Myotonic dystrophy#type 2
T 3
Down syndrome   21
DSMAV
see distal spinal muscular atrophy, type V
   
DSN
see Charcot-Marie-Tooth disease#type 4
   
DSS
see Charcot-Marie-Tooth disease, type 4
   
Duchenne/Becker muscular dystrophy
see muscular dystrophy, Duchenne and Becker types
   
Dwarf, achondroplastic
see achondroplasia
  3
Dwarf, thanatophoric
see thanatophoric dysplasia
   
Dwarfism    
Dwarfism-retinal atrophy-deafness syndrome
see Cockayne syndrome
   
dysmyelinogenic leukodystrophy
see Alexander disease
   
Dystrophia myotonica
see myotonic dystrophy
T 19
dystrophia retinae pigmentosa-dysostosis syndrome
see Usher syndrome
   

[edit] E

Disorder Mutation Chromosome
Early-Onset familial alzheimer disease (EOFAD)
see Alzheimer disease#type 1
see Alzheimer disease#type 3
see Alzheimer disease#type 4
   
EDS
see Ehlers-Danlos syndrome
   
Ehlers-Danlos syndrome    
Ekman-Lobstein disease
see osteogenesis imperfecta
   
Entrapment neuropathy
see hereditary neuropathy with liability to pressure palsies
   
Epiloia
see tuberous sclerosis
   
EPP
see erythropoietic protoporphyria
   
Erythroblastic anemia
see beta thalassemia
   
Erythrohepatic protoporphyria
see erythropoietic protoporphyria
   
Erythroid 5-aminolevulinate synthetase deficiency
see X-linked sideroblastic anemia
   
Erythropoietic porphyria
see congenital erythropoietic porphyria
   
erythropoietic protoporphyria    
Erythropoietic uroporphyria
see congenital erythropoietic porphyria
   
Eye cancer
see retinoblastoma FA - Friedreich ataxia
see Friedreich ataxia
   

[edit] F

Disorder Mutation Chromosome
Fabry disease P Xq22.1
Facial injuries and disorders    
factor V Leiden thrombophilia    
FALS
see amyotrophic lateral sclerosis
   
familial acoustic neuroma
see neurofibromatosis type II
   
familial adenomatous polyposis    
familial Alzheimer disease (FAD)
see Alzheimer disease
   
familial amyotrophic lateral sclerosis
see amyotrophic lateral sclerosis
   
familial dysautonomia    
familial fat-induced hypertriglyceridemia
see lipoprotein lipase deficiency, familial
   
familial hemochromatosis
see hemochromatosis
   
familial LPL deficiency
see lipoprotein lipase deficiency, familial
   
familial nonpolyposis colon cancer
see hereditary nonpolyposis colorectal cancer
   
familial paroxysmal polyserositis
see Mediterranean fever, familial
   
familial PCT
see porphyria cutanea tarda
   
familial pressure sensitive neuropathy
see hereditary neuropathy with liability to pressure palsies
   
familial primary pulmonary hypertension (FPPH)
see primary pulmonary hypertension
   
Familial Turner syndrome
see Noonan syndrome
   
familial vascular leukoencephalopathy
see CADASIL
   
FAP
see familial adenomatous polyposis
   
FD
see familial dysautonomia
   
Female pseudo-Turner syndrome
see Noonan syndrome
   
Ferrochelatase deficiency
see erythropoietic protoporphyria
   
ferroportin disease
see Haemochromatosis#type 4
   
Fever
see Mediterranean fever, familial
   
FG syndrome    
FGFR3-associated coronal synostosis
see Muenke syndrome
   
Fibrinoid degeneration of astrocytes
see Alexander disease
   
Fibrocystic disease of the pancreas
see cystic fibrosis
   
FMF
see Mediterranean fever, familial
   
Folling disease
see phenylketonuria
   
fra(X) syndrome
see fragile X syndrome
  Xq27.3
fragile X syndrome   Xq27.3
Fragilitas ossium
see osteogenesis imperfecta
   
FRAXA syndrome
see fragile X syndrome
  Xq27.3
FRDA
see Friedreich's ataxia
   
Friedreich ataxia
see Friedreich's ataxia
   
Friedreich's ataxia    
FXS
see fragile X syndrome
  Xq27.3

[edit] G

Disorder Mutation Chromosome
G6PD deficiency
 
   
Galactokinase deficiency disease
see galactosemia
   
Galactose-1-phosphate uridyl-transferase deficiency disease
see galactosemia
   
galactosemia    
Galactosylceramidase deficiency disease
see Krabbe disease
   
Galactosylceramide lipidosis
see Krabbe disease
   
galactosylcerebrosidase deficiency
see Krabbe disease
   
galactosylsphingosine lipidosis
see Krabbe disease
   
GALC deficiency
see Krabbe disease
   
GALT deficiency
see galactosemia
   
Gaucher disease    
Gaucher-like disease
see pseudo-Gaucher disease
   
GBA deficiency
see Gaucher disease type 1
   
GD
see Gaucher's disease
   
Genetic brain disorders    
genetic emphysema
see alpha-1 antitrypsin deficiency
   
genetic hemochromatosis
see hemochromatosis
   
Giant cell hepatitis, neonatal
see Neonatal hemochromatosis
   
GLA deficiency
see Fabry disease
   
Glioblastoma, retinal
see retinoblastoma
   
Glioma, retinal
see retinoblastoma
   
globoid cell leukodystrophy (GCL, GLD)
see Krabbe disease
   
globoid cell leukoencephalopathy
see Krabbe disease
   
Glucocerebrosidase deficiency
see Gaucher disease
   
Glucocerebrosidosis
see Gaucher disease
   
Glucosyl cerebroside lipidosis
see Gaucher disease
   
Glucosylceramidase deficiency
see Gaucher disease
   
Glucosylceramide beta-glucosidase deficiency
see Gaucher disease
   
Glucosylceramide lipidosis
see Gaucher disease
   
Glyceric aciduria
see hyperoxaluria, primary
   
Glycine encephalopathy
see Nonketotic hyperglycinemia
   
Glycolic aciduria
see hyperoxaluria, primary
   
GM2 gangliosidosis, type 1
see Tay-Sachs disease
   
Goiter-deafness syndrome
see Pendred syndrome
   
Graefe-Usher syndrome
see Usher syndrome
   
Gronblad-Strandberg syndrome
see pseudoxanthoma elasticum
   
Guenther porphyria
see congenital erythropoietic porphyria
   
Gunther disease
see congenital erythropoietic porphyria
   

[edit] H

Disorder Mutation Chromosome
Haemochromatosis
see hemochromatosis
   
Hallgren syndrome
see Usher syndrome
 
Harlequin Ichthyosis    
Hb S disease
see sickle cell anemia
   
HCH
see hypochondroplasia
   
HCP
see hereditary coproporphyria
   
Head and brain malformations    
Hearing disorders and deafness    
Hearing problems in children    
HEF2A
see hemochromatosis#type 2
   
HEF2B
see hemochromatosis#type 2
   
Hematoporphyria
see porphyria
   
Heme synthetase deficiency
see erythropoietic protoporphyria
   
Hemochromatoses
see hemochromatosis
   
hemochromatosis    
hemoglobin M disease
see methemoglobinemia#beta-globin type
   
Hemoglobin S disease
see sickle cell anemia
   
hemophilia    
HEP
see hepatoerythropoietic porphyria
   
hepatic AGT deficiency
see hyperoxaluria, primary
   
hepatoerythropoietic porphyria    
Hepatolenticular degeneration syndrome
see Wilson disease
   
Hereditary arthro-ophthalmopathy
see Stickler syndrome
   
Hereditary coproporphyria P 3q12
Hereditary dystopic lipidosis
see Fabry disease
   
Hereditary hemochromatosis (HHC)
see hemochromatosis
   
Hereditary Inclusion Body Myopathy
see skeletal muscle regeneration |
   
Hereditary iron-loading anemia
see X-linked sideroblastic anemia
   
Hereditary motor and sensory neuropathy
see Charcot-Marie-Tooth disease
   
Hereditary motor neuronopathy
see spinal muscular atrophy
   
Hereditary motor neuronopathy, type V
see distal spinal muscular atrophy, type V
   
Hereditary Multiple Exostoses  
Hereditary nonpolyposis colorectal cancer DNA mismatch repair dysfunction
usually in MSH2 and MLH1 genes
usually chromosomes 2 and 3
Hereditary periodic fever syndrome
see Mediterranean fever, familial
   
Hereditary Polyposis Coli
see familial adenomatous polyposis
   
Hereditary pulmonary emphysema
see alpha-1 antitrypsin deficiency
   
Hereditary resistance to activated protein C
see factor V Leiden thrombophilia
   
Hereditary sensory and autonomic neuropathy type III
see familial dysautonomia
   
Hereditary spastic paraplegia
see infantile-onset ascending hereditary spastic paralysis
   
Hereditary spinal ataxia
see Friedreich ataxia
   
Hereditary spinal sclerosis
see Friedreich ataxia
   
Herrick's anemia
see sickle cell anemia
   
Heterozygous OSMED
see Weissenbacher-Zweymüller syndrome
   
Heterozygous otospondylomegaepiphyseal dysplasia
see Weissenbacher-Zweymüller syndrome
   
HexA deficiency
see Tay-Sachs disease
   
Hexosaminidase A deficiency
see Tay-Sachs disease
   
Hexosaminidase alpha-subunit deficiency (variant B)
see Tay-Sachs disease
   
HFE-associated hemochromatosis
see hemochromatosis
   
HGPS
see Progeria
   
Hippel-Lindau disease
see von Hippel-Lindau disease
   
HLAH
see hemochromatosis
   
HMN V
see distal spinal muscular atrophy, type V
   
HMSN
see Charcot-Marie-Tooth disease
   
HNPCC
see hereditary nonpolyposis colorectal cancer
   
HNPP
see hereditary neuropathy with liability to pressure palsies
   
homocystinuria    
Homogentisic acid oxidase deficiency
see alkaptonuria
   
Homogentisic acidura
see alkaptonuria
   
Homozygous porphyria cutanea tarda
see hepatoerythropoietic porphyria
   
HP1
see hyperoxaluria, primary
   
HP2
see hyperoxaluria, primary
   
HPA
see hyperphenylalaninemia
   
HPRT - Hypoxanthine-guanine phosphoribosyltransferase deficiency
see Lesch-Nyhan syndrome
   
HSAN type III
see familial dysautonomia
   
HSAN3
see familial dysautonomia
   
HSN-III
see familial dysautonomia
   
Human dermatosparaxis
see Ehlers-Danlos syndrome#dermatosparaxis type
   
Huntington's disease T 4p16.3
Hutchinson-Gilford progeria syndrome
see progeria
   
Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency
see 21-hydroxylase deficiency
   
Hyperchylomicronemia, familial
see lipoprotein lipase deficiency, familial
   
hyperglycinemia with ketoacidosis and leukopenia
see propionic acidemia
   
Hyperlipoproteinemia type I
see lipoprotein lipase deficiency, familial
   
hyperoxaluria, primary    
hyperphenylalaninaemia
see hyperphenylalaninemia
   
hyperphenylalaninemia    
Hypochondrodysplasia
see hypochondroplasia
   
hypochondrogenesis    
hypochondroplasia    
Hypochromic anemia
see X-linked sideroblastic anemia
   
Hypocupremia, congenital
see Menkes syndrome
   
hypoxanthine phosphoribosyltransferse (HPRT) deficiency
see Lesch-Nyhan syndrome
   

[edit] I

Disorder Mutation Chromosome
IAHSP
see infantile-onset ascending hereditary spastic paralysis
   
idiopathic hemochromatosis
see hemochromatosis, type 3
   
Idiopathic neonatal hemochromatosis
see hemochromatosis, neonatal
   
Idiopathic pulmonary hypertension
see primary pulmonary hypertension
   
Immune system disorders
see X-linked severe combined immunodeficiency
   
Incontinentia Pigmenti P Xq28
Infantile cerebral Gaucher's disease
see Gaucher disease type 2
   
Infantile Gaucher disease
see Gaucher disease type 2
   
infantile-onset ascending hereditary spastic paralysis    
Infertility    
inherited emphysema
see alpha-1 antitrypsin deficiency
   
Inherited human transmissible spongiform encephalopathies
see prion disease
   
inherited tendency to pressure palsies
see hereditary neuropathy with liability to pressure palsies
   
Insley-Astley syndrome
see otospondylomegaepiphyseal dysplasia
   
Intermittent acute porphyria syndrome
see acute intermittent porphyria
   
Intestinal polyposis-cutaneous pigmentation syndrome
see Peutz-Jeghers syndrome
   
IP
see incontinentia pigmenti
   
Iron storage disorder
see hemochromatosis
   
Isodicentric 15
see idic15
Inv dup 15q11-14
Isolated deafness
see nonsyndromic deafness
   

[edit] J

Disorder Mutation Chromosome
Jackson-Weiss syndrome    
JH
see Haemochromatosis#type 2
   
Joubert syndrome    
JPLS
see Juvenile Primary Lateral Sclerosis
ALS2  
juvenile amyotrophic lateral sclerosis
see Amyotrophic lateral sclerosis#type 2
   
Juvenile gout, choreoathetosis, mental retardation syndrome
see Lesch-Nyhan syndrome
   
juvenile hyperuricemia syndrome
see Lesch-Nyhan syndrome
   
JWS
see Jackson-Weiss syndrome
   

[edit] K

Disorder Mutation Chromosome
KD
see X-linked spinal-bulbar muscle atrophy
   
Kennedy disease
see X-linked spinal-bulbar muscle atrophy
   
Kennedy spinal and bulbar muscular atrophy
see X-linked spinal-bulbar muscle atrophy
   
Kerasin histiocytosis
see Gaucher disease
   
Kerasin lipoidosis
see Gaucher disease
   
Kerasin thesaurismosis
see Gaucher disease
   
ketotic glycinemia
see propionic acidemia
   
ketotic hyperglycinemia
see propionic acidemia
   
Kidney diseases
see hyperoxaluria, primary
   
Klinefelter syndrome    
Klinefelter's syndrome
see Klinefelter syndrome
   
Kniest dysplasia    
Krabbe disease    

[edit] L

Disorder Mutation Chromosome
Lacunar dementia
see CADASIL
   
Langer-Saldino achondrogenesis
see achondrogenesis, type II
   
Langer-Saldino dysplasia
see achondrogenesis, type II
   
Late-onset Alzheimer disease
see Alzheimer disease#type 2
   
Late-onset familial Alzheimer disease (AD2)
see Alzheimer disease#type 2
   
late-onset Krabbe disease (LOKD)
see Krabbe disease
   
Learning Disorders
see Learning disability
   
Lentiginosis, perioral
see Peutz-Jeghers syndrome
   
Lesch-Nyhan syndrome    
Leukodystrophies    
leukodystrophy with Rosenthal fibers
see Alexander disease
   
Leukodystrophy, spongiform
see Canavan disease
   
LFS
see Li-Fraumeni syndrome
   
Li-Fraumeni syndrome    
Lipase D deficiency
see lipoprotein lipase deficiency, familial
   
LIPD deficiency
see lipoprotein lipase deficiency, familial
   
Lipidosis, cerebroside
see Gaucher disease
   
Lipidosis, ganglioside, infantile
see Tay-Sachs disease
   
Lipoid histiocytosis (kerasin type)
see Gaucher disease
   
lipoprotein lipase deficiency, familial    
Liver diseases
see galactosemia
   
Lou Gehrig disease
see amyotrophic lateral sclerosis
   
Louis-Bar syndrome
see ataxia-telangiectasia
   
Lynch syndrome
see hereditary nonpolyposis colorectal cancer
   
Lysyl-hydroxylase deficiency
see Ehlers-Danlos syndrome#kyphoscoliosis type
   

[edit] M

Disorder Mutation Chromosome
Machado-Joseph disease
see Spinocerebellar ataxia#type 3
   
Male breast cancer
see breast cancer
   
Male genital disorders    
Male Turner syndrome
see Noonan syndrome
   
Malignant neoplasm of breast
see breast cancer
   
malignant tumor of breast
see breast cancer
   
Malignant tumor of urinary bladder
see bladder cancer
   
Mammary cancer
see breast cancer
   
Marfan syndrome   15
Marker X syndrome
see fragile X syndrome
   
Martin-Bell syndrome
see fragile X syndrome
   
McCune-Albright syndrome   20 q13.2-13.3
McLeod syndrome   X
MEDNIK[1][2] D AP1S1
Mediterranean Anemia
see beta thalassemia
   
Mediterranean fever, familial    
Mega-epiphyseal dwarfism
see otospondylomegaepiphyseal dysplasia
   
Menkea syndrome
see Menkes syndrome
   
Menkes syndrome    
Mental retardation with osteocartilaginous abnormalities
see Coffin-Lowry syndrome
   
Metabolic disorders    
Metatropic dwarfism, type II
see Kniest dysplasia
   
Metatropic dysplasia type II
see Kniest dysplasia
   
Methemoglobinemia#beta-globin type    
methylmalonic acidemia    
MFS
see Marfan syndrome
   
MHAM
see Cowden syndrome
   
MK
see Menkes syndrome
   
Micro syndrome   2q21.3
Microcephaly P 1q31 (ASPM)
MMA
see methylmalonic acidemia
   
MNK
see Menkes syndrome
   
Monosomy 1p36 syndrome
see 1p36 deletion syndrome
D 1p36
monosomy X
see Turner syndrome
   
Motor neuron disease, amyotrophic lateral sclerosis
see amyotrophic lateral sclerosis
   
Movement disorders    
Mowat-Wilson syndrome    
Mucoviscidosis
see cystic fibrosis
   
Muenke syndrome    
Multi-Infarct dementia
see CADASIL
   
Multiple carboxylase deficiency, late-onset
see biotinidase deficiency
   
Multiple hamartoma syndrome
see Cowden syndrome
   
Multiple neurofibromatosis
see neurofibromatosis
   
Muscular dystrophy    
Muscular dystrophy, Duchenne and Becker type    
Myotonia atrophica
see myotonic dystrophy
   
Myotonia dystrophica
see myotonic dystrophy
   
myotonic dystrophy    
Myxedema, congenital
see congenital hypothyroidism
   

[edit] N

Disorder Mutation Chromosome
Nance-Insley syndrome
see otospondylomegaepiphyseal dysplasia
   
Nance-Sweeney chondrodysplasia
see otospondylomegaepiphyseal dysplasia
   
NBIA1
see pantothenate kinase-associated neurodegeneration
   
Neill-Dingwall syndrome
see Cockayne syndrome
   
Neuroblastoma, retinal
see retinoblastoma
   
Neurodegeneration with brain iron accumulation type 1
see pantothenate kinase-associated neurodegeneration
   
Neurofibromatosis type I   17q11.2
Neurofibromatosis type II    
Neurologic diseases    
Neuromuscular disorders    
neuronopathy, distal hereditary motor, type V
see Distal spinal muscular atrophy#type V
   
neuronopathy, distal hereditary motor, with pyramidal features
see Amyotrophic lateral sclerosis#type 4
   
NF
see neurofibromatosis#type I

see neurofibromatosis#type II
   
Niemann-Pick
see Niemann-Pick disease
NPA, NPB, NPC1, NPC2, SMPD1  
Noack syndrome
see Pfeiffer syndrome
   
Nonketotic hyperglycinemia
see Glycine encephalopathy
   
Non-neuronopathic Gaucher disease
see Gaucher disease type 1
   
Non-phenylketonuric hyperphenylalaninemia
see tetrahydrobiopterin deficiency
   
nonsyndromic deafness    
Noonan syndrome    
Norrbottnian Gaucher disease
see Gaucher disease type 3
   

[edit] O

Disorder Mutation Chromosome
Ochronosis
see alkaptonuria
   
Ochronotic arthritis
see alkaptonuria
   
OI
see osteogenesis imperfecta
   
OSMED
see otospondylomegaepiphyseal dysplasia
   
osteogenesis imperfecta    
Osteopsathyrosis
see osteogenesis imperfecta
   
Osteosclerosis congenita
see achondroplasia
   
Oto-spondylo-megaepiphyseal dysplasia
see otospondylomegaepiphyseal dysplasia
   
otospondylomegaepiphyseal dysplasia    
Oxalosis
see hyperoxaluria, primary
   
Oxaluria, primary
see hyperoxaluria, primary
   

[edit] P

Disorder Mutation Chromosome
pantothenate kinase-associated neurodegeneration    
Patau Syndrome (Trisomy 13)    
PBGD deficiency
see acute intermittent porphyria
   
PCC deficiency
see propionic acidemia
   
PCT
see porphyria cutanea tarda
   
PDM
see Myotonic dystrophy#type 2
   
Pendred syndrome    
Periodic disease
see Mediterranean fever, familial
   
Periodic peritonitis
see Mediterranean fever, familial
   
Periorificial lentiginosis syndrome
see Peutz-Jeghers syndrome
   
Peripheral nerve disorders
see familial dysautonomia
   
Peripheral neurofibromatosis
see neurofibromatosis 1
   
Peroneal muscular atrophy
see Charcot-Marie-Tooth disease
   
peroxisomal alanine:glyoxylate aminotransferase deficiency
see hyperoxaluria, primary
   
Peutz-Jeghers syndrome    
Pfeiffer syndrome    
Phenylalanine hydroxylase deficiency disease
see phenylketonuria
   
phenylketonuria    
Pheochromocytoma
see von Hippel-Lindau disease
   
Pierre Robin syndrome with fetal chondrodysplasia
see Weissenbacher-Zweymüller syndrome
   
Pigmentary cirrhosis
see hemochromatosis
   
PJS
see Peutz-Jeghers syndrome
   
PKAN
see pantothenate kinase-associated neurodegeneration
   
PKU
see phenylketonuria
   
Plumboporphyria
see ALA deficiency porphyria
   
PMA
see Charcot-Marie-tooth disease
   
polyostotic fibrous dysplasia
see McCune-Albright syndrome
  20 q13.2-13.3
polyposis coli
see familial adenomatous polyposis
   
polyposis, hamartomatous intestinal
see Peutz-Jeghers syndrome
   
polyposis, intestinal, II
see Peutz-Jeghers syndrome
   
polyps-and-spots syndrome
see Peutz-Jeghers syndrome
   
Porphobilinogen synthase deficiency
see ALA deficiency porphyria
   
porphyria    
porphyrin disorder
see porphyria
   
PPH
see primary pulmonary hypertension
   
PPOX deficiency
see variegate porphyria
   
Prader-Labhart-Willi syndrome
see Prader-Willi syndrome
   
Prader-Willi syndrome    
presenile and senile dementia
see Alzheimer disease
   
primary hemochromatosis
see hemochromatosis
   
primary hyperuricemia syndrome
see Lesch-Nyhan syndrome
   
primary pulmonary hypertension    
primary senile degenerative dementia
see Alzheimer disease
   
prion disease    
procollagen type EDS VII, mutant
see Ehlers-Danlos syndrome#arthrochalasia type
   
progeria
see Hutchinson Gilford progeria syndrome
   
Progeria-like syndrome
see Cockayne syndrome
   
progeroid nanism
see Cockayne syndrome
   
progressive chorea, chronic hereditary (Huntington)
see Huntington's disease
   
progressive muscular atrophy
see spinal muscular atrophy
   
progressively deforming osteogenesis imperfecta with normal sclerae
see Osteogenesis imperfecta#type III
   
PROMM
see Myotonic dystrophy#type 2
   
propionic acidemia    
propionyl-CoA carboxylase deficiency
see propionic acidemia
   
protein C deficiency    
protein S deficiency    
protoporphyria
see erythropoietic protoporphyria
   
protoporphyrinogen oxidase deficiency
see variegate porphyria
   
proximal myotonic dystrophy
see Myotonic dystrophy#type 2
   
proximal myotonic myopathy
see Myotonic dystrophy#type 2
   
pseudo-Gaucher disease    
pseudo-Ullrich-Turner syndrome
see Noonan syndrome
   
pseudoxanthoma elasticum    
psychosine lipidosis
see Krabbe disease
   
pulmonary arterial hypertension
see primary pulmonary hypertension
   
pulmonary hypertension
see primary pulmonary hypertension
   
PWS
see Prader-Willi syndrome
   
PXE - pseudoxanthoma elasticum
see pseudoxanthoma elasticum
   

[edit] R

Disorder Mutation Chromosome
Rb
see retinoblastoma
   
Recklinghausen disease, nerve
see neurofibromatosis 1
   
Recurrent polyserositis
see Mediterranean fever, familial
   
Retinal disorders    
Retinitis pigmentosa-deafness syndrome
see Usher syndrome
   
Retinoblastoma    
Rett syndrome    
RFALS type 3
see Amyotrophic lateral sclerosis#type 2
   
Ricker syndrome
see Myotonic dystrophy#type 2
   
Riley-Day syndrome
see familial dysautonomia
   
Roussy-Levy syndrome
see Charcot-Marie-Tooth disease
   
RSTS
see Rubinstein-Taybi syndrome
   
RTS
see Rett syndrome
see Rubinstein-Taybi syndrome
   
RTT
see Rett syndrome
   
Rubinstein-Taybi syndrome    

[edit] S

Disorder Mutation Chromosome
Sack-Barabas syndrome
see Ehlers-Danlos syndrome, vascular type
   
SADDAN    
sarcoma family syndrome of Li and Fraumeni
see Li-Fraumeni syndrome
   
sarcoma, breast, leukemia, and adrenal gland (SBLA) syndrome
see Li-Fraumeni syndrome
   
SBLA syndrome
see Li-Fraumeni syndrome
   
SBMA
see X-linked spinal-bulbar muscle atrophy
   
SCD
see sickle cell anemia
   
Schwannoma, acoustic, bilateral
see neurofibromatosis 2
   
SCIDX1
see X-linked severe combined immunodeficiency
   
sclerosis tuberosa
see tuberous sclerosis
   
SDAT
see Alzheimer disease
   
SED congenita
see spondyloepiphyseal dysplasia congenita
   
SED Strudwick
see spondyloepimetaphyseal dysplasia, Strudwick type
   
SEDc
see spondyloepiphyseal dysplasia congenita
   
SEMD, Strudwick type
see spondyloepimetaphyseal dysplasia, Strudwick type
   
senile dementia
see Alzheimer disease#type 2
   
severe achondroplasia with developmental delay and acanthosis nigricans
see SADDAN
   
Shprintzen syndrome
see 22q11.2 deletion syndrome
D 22q
sickle cell anemia    
skeleton-skin-brain syndrome
see SADDAN
   
Skin pigmentation disorders    
SMA
see spinal muscular atrophy
   
SMED, Strudwick type
see spondyloepimetaphyseal dysplasia, Strudwick type
   
SMED, type I
see spondyloepimetaphyseal dysplasia, Strudwick type
   
Smith Lemli Opitz Syndrome    
South-African genetic porphyria
see variegate porphyria
   
spastic paralysis, infantile onset ascending
see infantile-onset ascending hereditary spastic paralysis
   
Speech and communication disorders    
sphingolipidosis, Tay-Sachs
see Tay-Sachs disease
   
spinal-bulbar muscular atrophy    
spinal muscular atrophy    
spinal muscular atrophy, distal type V
see Distal spinal muscular atrophy#type V
   
spinal muscular atrophy, distal, with upper limb predominance
see Distal spinal muscular atrophy#type V
   
spinocerebellar ataxia    
spondyloepimetaphyseal dysplasia, Strudwick type    
spondyloepiphyseal dysplasia congenita    
spondyloepiphyseal dysplasia
see collagenopathy, types II and XI
   
spondylometaepiphyseal dysplasia congenita, Strudwick type
see spondyloepimetaphyseal dysplasia, Strudwick type
   
spondylometaphyseal dysplasia (SMD)
see spondyloepimetaphyseal dysplasia, Strudwick type
   
spondylometaphyseal dysplasia, Strudwick type
see spondyloepimetaphyseal dysplasia, Strudwick type
   
spongy degeneration of central nervous system
see Canavan disease
   
spongy degeneration of the brain
see Canavan disease
   
spongy degeneration of white matter in infancy
see Canavan disease
   
sporadic primary pulmonary hypertension
see primary pulmonary hypertension
   
SSB syndrome
see SADDAN
   
steely hair syndrome
see Menkes syndrome
   
Steinert disease
see myotonic dystrophy
   
Steinert myotonic dystrophy syndrome
see myotonic dystrophy
   
Stickler syndrome    
stroke
see CADASIL
   
Strudwick syndrome
see spondyloepimetaphyseal dysplasia, Strudwick type
   
subacute neuronopathic Gaucher disease
see Gaucher disease type 3
   
Swedish genetic porphyria
see acute intermittent porphyria
   
Swedish porphyria
see acute intermittent porphyria
   
Swiss cheese cartilage dysplasia
see Kniest dysplasia
   

[edit] T

Disorder Mutation Chromosome
Tay-Sachs disease    
TD - thanatophoric dwarfism
see thanatophoric dysplasia
   
TD with straight femurs and cloverleaf skull
see thanatophoric dysplasia#Type 2
   
Telangiectasia, cerebello-oculocutaneous
see ataxia-telangiectasia
   
Testicular feminization syndrome
see androgen insensitivity syndrome
   
tetrahydrobiopterin deficiency    
TFM - testicular feminization syndrome
see androgen insensitivity syndrome
   
thalassemia intermedia
see beta thalassemia
   
Thalassemia Major
see beta thalassemia
   
thanatophoric dysplasia    
thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness    
Thrombophilia due to deficiency of cofactor for activated protein C, Leiden type
see factor V Leiden thrombophilia
   
Thyroid disease    
Tomaculous neuropathy
see hereditary neuropathy with liability to pressure palsies
   
Total HPRT deficiency
see Lesch-Nyhan syndrome
   
Total hypoxanthine-guanine phosphoribosyl transferase deficiency
see Lesch-Nyhan syndrome

Tourette's Syndrome

   
Transmissible dementias
see prion disease
   
Transmissible spongiform encephalopathies
see prion disease
   
Treacher Collins syndrome   5q32-q33.1
Trias fragilitis ossium
see osteogenesis imperfecta#Type I
   
triple X syndrome    
Triplo X syndrome
see triple X syndrome
   
Trisomy 21
see Down syndrome
   
Trisomy X
see triple X syndrome
   
Troisier-Hanot-Chauffard syndrome
see hemochromatosis
   
TS
see Turner syndrome
   
TSD
see Tay-Sachs disease
   
TSEs
see prion disease
   
tuberose sclerosis
see tuberous sclerosis
   
tuberous sclerosis    
Turner syndrome    
Turner syndrome in female with X chromosome
see Noonan syndrome
   
Turner's phenotype, karyotype normal
see Noonan syndrome
   
Turner's syndrome
see Turner syndrome
   
Turner-like syndrome
see Noonan syndrome
   
Type 2 Gaucher disease
see Gaucher disease type 2
   
Type 3 Gaucher disease
see Gaucher disease type 3
   

[edit] U

Disorder Mutation Chromosome
UDP-galactose-4-epimerase deficiency disease
see galactosemia
   
UDP glucose 4-epimerase deficiency disease
see galactosemia
   
UDP glucose hexose-1-phosphate uridylyltransferase deficiency
see galactosemia
   
Ullrich-Noonan syndrome
see Noonan syndrome
   
Ullrich-Turner syndrome
see Turner syndrome
   
Undifferentiated deafness
see nonsyndromic deafness
   
UPS deficiency
see acute intermittent porphyria
   
Urinary bladder cancer
see bladder cancer
   
UROD deficiency
see porphyria cutanea tarda
   
Uroporphyrinogen decarboxylase deficiency
see porphyria cutanea tarda
   
Uroporphyrinogen synthase deficiency
see acute intermittent porphyria
   
UROS deficiency
see congenital erythropoietic porphyria
   
Usher syndrome    
UTP hexose-1-phosphate uridylyltransferase deficiency
see galactosemia
   

[edit] V

Disorder Mutation Chromosome
Van Bogaert-Bertrand syndrome
see Canavan disease
   
Van der Hoeve syndrome
see osteogenesis imperfecta#Type I
   
variegate porphyria    
Velocardiofacial syndrome
see 22q11.2 deletion syndrome
D 22q
VHL syndrome
see von Hippel-Lindau disease
   
Vision impairment and blindness
see Alstrom syndrome
   
Von Bogaert-Bertrand disease
see Canavan disease
   
von Hippel-Lindau disease    
Von Recklenhausen-Applebaum disease
see hemochromatosis
   
von Recklinghausen disease
see neurofibromatosis 1
   
VP
see variegate porphyria
   
Vrolik disease
see osteogenesis imperfecta
   

[edit] W

Disorder Mutation Chromosome
Waardenburg syndrome    
Warburg Sjo Fledelius Syndrome
see Micro syndrome
  2q21.3
WD
see Wilson disease
   
Weissenbacher-Zweymüller syndrome    
Wilson disease    
Wilson's disease
see Wilson disease
   
Wolf-Hirschhorn syndrome D 4p
Wolff Periodic disease
see Mediterranean fever, familial
   
WZS
see Weissenbacher-Zweymüller syndrome
   

[edit] X

Disorder Mutation Chromosome
Xeroderma Pigmentosum ERCC4 15
X-linked mental retardation and macroorchidism
see fragile X syndrome
   
X-linked primary hyperuricemia
see Lesch-Nyhan syndrome
   
X-linked severe combined immunodeficiency    
X-linked sideroblastic anemia    
X-linked spinal-bulbar muscle atrophy
see Kennedy disease
   
X-linked uric aciduria enzyme defect
see Lesch-Nyhan syndrome
   
X-SCID
see X-linked severe combined immunodeficiency
   
XLSA
see X-linked sideroblastic anemia
   
XSCID
see X-linked severe combined immunodeficiency
   
XXX syndrome
see triple X syndrome
   
XXXX syndrome
 
   
XXY syndrome
see Klinefelter syndrome
   
XXY trisomy
see Klinefelter syndrome
   
XYY karyotype
see 47,XYY syndrome
   
XYY syndrome
see 47,XYY syndrome
   

[edit] Y

Disorder Mutation Chromosome
YY syndrome
see 47,XYY syndrome
   

 

Krisswall is under the mentorship of Neb, as he is learning the trade of OHM NOM NOMming [otherwise known as 'Nolphination'], but he has yet to accomplish a Nolphin on his own. Kat mentors Kriss on life-support, wire, and Server-related information. Fract mentors Kriss in Life Support, Ship building, and Jake-insult-throwing. [citation needed]

 

His build style, from our spies, reports, "His building style is erratical. It just...doesnt exist. one moment hes making a dancing kliener, the next hes making a parasite OHM NOM NOM ship." Based on this information, we have concluded that Krisswall's building style is 'Pointless Build'. He has yet to break this habit.

 

As our spies spyware feeds us information from his computer, more updates are to come.

 

1. http://en.wikipedia.org/wiki/List_of_genetic_disorders 

~~END TRANSMISSION~~

lolcake

[edit] R

Disorder Mutation Chromosome
Rb
see retinoblastoma
   
Recklinghausen disease, nerve
see neurofibromatosis 1
   
Recurrent polyserositis
see Mediterranean fever, familial
   
Retinal disorders    
Retinitis pigmentosa-deafness syndrome
see Usher syndrome
   
Retinoblastoma    
Rett syndrome    
RFALS type 3
see Amyotrophic lateral sclerosis#type 2
   
Ricker syndrome
see Myotonic dystrophy#type 2
   
Riley-Day syndrome
see familial dysautonomia
   
Roussy-Levy syndrome
see Charcot-Marie-Tooth disease
   
RSTS
see Rubinstein-Taybi syndrome
   
RTS
see Rett syndrome
see Rubinstein-Taybi syndrome
   
RTT
see Rett syndrome
   
Rubinstein-Taybi syndrome    

[edit] S

Disorder Mutation Chromosome
Sack-Barabas syndrome
see Ehlers-Danlos syndrome, vascular type
   
SADDAN    
sarcoma family syndrome of Li and Fraumeni
see Li-Fraumeni syndrome
   
sarcoma, breast, leukemia, and adrenal gland (SBLA) syndrome
see Li-Fraumeni syndrome
   
SBLA syndrome
see Li-Fraumeni syndrome
   
SBMA
see X-linked spinal-bulbar muscle atrophy
   
SCD
see sickle cell anemia
   
Schwannoma, acoustic, bilateral
see neurofibromatosis 2
   
SCIDX1
see X-linked severe combined immunodeficiency
   
sclerosis tuberosa
see tuberous sclerosis
   
SDAT
see Alzheimer disease
   
SED congenita
see spondyloepiphyseal dysplasia congenita
   
SED Strudwick
see spondyloepimetaphyseal dysplasia, Strudwick type
   
SEDc
see spondyloepiphyseal dysplasia congenita
   
SEMD, Strudwick type
see spondyloepimetaphyseal dysplasia, Strudwick type
   
senile dementia
see Alzheimer disease#type 2
   
severe achondroplasia with developmental delay and acanthosis nigricans
see SADDAN
   
Shprintzen syndrome
see 22q11.2 deletion syndrome
D 22q
sickle cell anemia    
skeleton-skin-brain syndrome
see SADDAN
   
Skin pigmentation disorders    
SMA
see spinal muscular atrophy
   
SMED, Strudwick type
see spondyloepimetaphyseal dysplasia, Strudwick type
   
SMED, type I
see spondyloepimetaphyseal dysplasia, Strudwick type
   
Smith Lemli Opitz Syndrome    
South-African genetic porphyria
see variegate porphyria
   
spastic paralysis, infantile onset ascending
see infantile-onset ascending hereditary spastic paralysis
   
Speech and communication disorders    
sphingolipidosis, Tay-Sachs
see Tay-Sachs disease
   
spinal-bulbar muscular atrophy    
spinal muscular atrophy    
spinal muscular atrophy, distal type V
see Distal spinal muscular atrophy#type V
   
spinal muscular atrophy, distal, with upper limb predominance
see Distal spinal muscular atrophy#type V
   
spinocerebellar ataxia    
spondyloepimetaphyseal dysplasia, Strudwick type    
spondyloepiphyseal dysplasia congenita    
spondyloepiphyseal dysplasia
see collagenopathy, types II and XI
   
spondylometaepiphyseal dysplasia congenita, Strudwick type
see spondyloepimetaphyseal dysplasia, Strudwick type
   
spondylometaphyseal dysplasia (SMD)
see spondyloepimetaphyseal dysplasia, Strudwick type
   
spondylometaphyseal dysplasia, Strudwick type
see spondyloepimetaphyseal dysplasia, Strudwick type
   
spongy degeneration of central nervous system
see Canavan disease
   
spongy degeneration of the brain
see Canavan disease
   
spongy degeneration of white matter in infancy
see Canavan disease
   
sporadic primary pulmonary hypertension
see primary pulmonary hypertension
   
SSB syndrome
see SADDAN
   
steely hair syndrome
see Menkes syndrome
   
Steinert disease
see myotonic dystrophy
   
Steinert myotonic dystrophy syndrome
see myotonic dystrophy
   
Stickler syndrome    
stroke
see CADASIL
   
Strudwick syndrome
see spondyloepimetaphyseal dysplasia, Strudwick type
   
subacute neuronopathic Gaucher disease
see Gaucher disease type 3
   
Swedish genetic porphyria
see acute intermittent porphyria
   
Swedish porphyria
see acute intermittent porphyria
   
Swiss cheese cartilage dysplasia
see Kniest dysplasia
   

[edit] T

Disorder Mutation Chromosome
Tay-Sachs disease    
TD - thanatophoric dwarfism
see thanatophoric dysplasia
   
TD with straight femurs and cloverleaf skull
see thanatophoric dysplasia#Type 2
   
Telangiectasia, cerebello-oculocutaneous
see ataxia-telangiectasia
   
Testicular feminization syndrome
see androgen insensitivity syndrome
   
tetrahydrobiopterin deficiency    
TFM - testicular feminization syndrome
see androgen insensitivity syndrome
   
thalassemia intermedia
see beta thalassemia
   
Thalassemia Major
see beta thalassemia
   
thanatophoric dysplasia    
thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness    
Thrombophilia due to deficiency of cofactor for activated protein C, Leiden type
see factor V Leiden thrombophilia
   
Thyroid disease    
Tomaculous neuropathy
see hereditary neuropathy with liability to pressure palsies
   
Total HPRT deficiency
see Lesch-Nyhan syndrome
   
Total hypoxanthine-guanine phosphoribosyl transferase deficiency
see Lesch-Nyhan syndrome

Tourette's Syndrome

   
Transmissible dementias
see prion disease
   
Transmissible spongiform encephalopathies
see prion disease
   
Treacher Collins syndrome   5q32-q33.1
Trias fragilitis ossium
see osteogenesis imperfecta#Type I
   
triple X syndrome    
Triplo X syndrome
see triple X syndrome
   
Trisomy 21
see Down syndrome
   
Trisomy X
see triple X syndrome
   
Troisier-Hanot-Chauffard syndrome
see hemochromatosis
   
TS
see Turner syndrome
   
TSD
see Tay-Sachs disease
   
TSEs
see prion disease
   
tuberose sclerosis
see tuberous sclerosis
   
tuberous sclerosis    
Turner syndrome    
Turner syndrome in female with X chromosome
see Noonan syndrome
   
Turner's phenotype, karyotype normal
see Noonan syndrome
   
Turner's syndrome
see Turner syndrome
   
Turner-like syndrome
see Noonan syndrome
   
Type 2 Gaucher disease
see Gaucher disease type 2
   
Type 3 Gaucher disease
see Gaucher disease type 3
   

[edit] U

Disorder Mutation Chromosome
UDP-galactose-4-epimerase deficiency disease
see galactosemia
   
UDP glucose 4-epimerase deficiency disease
see galactosemia
   
UDP glucose hexose-1-phosphate uridylyltransferase deficiency
see galactosemia
   
Ullrich-Noonan syndrome
see Noonan syndrome
   
Ullrich-Turner syndrome
see Turner syndrome
   
Undifferentiated deafness
see nonsyndromic deafness
   
UPS deficiency
see acute intermittent porphyria
   
Urinary bladder cancer
see bladder cancer
   
UROD deficiency
see porphyria cutanea tarda
   
Uroporphyrinogen decarboxylase deficiency
see porphyria cutanea tarda
   
Uroporphyrinogen synthase deficiency
see acute intermittent porphyria
   
UROS deficiency
see congenital erythropoietic porphyria
   
Usher syndrome    
UTP hexose-1-phosphate uridylyltransferase deficiency
see galactosemia
   

[edit] V

Disorder Mutation Chromosome
Van Bogaert-Bertrand syndrome
see Canavan disease
   
Van der Hoeve syndrome
see osteogenesis imperfecta#Type I
   
variegate porphyria    
Velocardiofacial syndrome
see 22q11.2 deletion syndrome
D 22q
VHL syndrome
see von Hippel-Lindau disease
   
Vision impairment and blindness
see Alstrom syndrome
   
Von Bogaert-Bertrand disease
see Canavan disease
   
von Hippel-Lindau disease    
Von Recklenhausen-Applebaum disease
see hemochromatosis
   
von Recklinghausen disease
see neurofibromatosis 1
   
VP
see variegate porphyria
   
Vrolik disease
see osteogenesis imperfecta
   

[edit] W

Disorder Mutation Chromosome
Waardenburg syndrome    
Warburg Sjo Fledelius Syndrome
see Micro syndrome
  2q21.3
WD
see Wilson disease
   
Weissenbacher-Zweymüller syndrome    
Wilson disease    
Wilson's disease
see Wilson disease
   
Wolf-Hirschhorn syndrome D 4p
Wolff Periodic disease
see Mediterranean fever, familial
   
WZS
see Weissenbacher-Zweymüller syndrome
   

[edit] X

Disorder Mutation Chromosome
Xeroderma Pigmentosum ERCC4 15
X-linked mental retardation and macroorchidism
see fragile X syndrome
   
X-linked primary hyperuricemia
see Lesch-Nyhan syndrome
   
X-linked severe combined immunodeficiency    
X-linked sideroblastic anemia    
X-linked spinal-bulbar muscle atrophy
see Kennedy disease
   
X-linked uric aciduria enzyme defect
see Lesch-Nyhan syndrome
   
X-SCID
see X-linked severe combined immunodeficiency
   
XLSA
see X-linked sideroblastic anemia
   
XSCID
see X-linked severe combined immunodeficiency
   
XXX syndrome
see triple X syndrome
   
XXXX syndrome
 
   
XXY syndrome
see Klinefelter syndrome
   
XXY trisomy
see Klinefelter syndrome
   
XYY karyotype
see 47,XYY syndrome
   
XYY syndrome
see 47,XYY syndrome
   

[edit] Y

Disorder Mutation Chromosome
YY syndrome
see 47,XYY syndrome
   

 

Krisswall is under the mentorship of Neb, as he is learning the trade of OHM NOM NOMming [otherwise known as 'Nolphination'], but he has yet to accomplish a Nolphin on his own. Kat mentors Kriss on life-support, wire, and Server-related information. Fract mentors Kriss in Life Support, Ship building, and Jake-insult-throwing. [citation needed]

 

His build style, from our spies, reports, "His building style is erratical. It just...doesnt exist. one moment hes making a dancing kliener, the next hes making a parasite OHM NOM NOM ship." Based on this information, we have concluded that Krisswall's building style is 'Pointless Build'. He has yet to break this habit.

 

As our spies spyware feeds us information from his computer, more updates are to come.

 

1. http://en.wikipedia.org/wiki/List_of_genetic_disorders 

~~END TRANSMISSION~~

lolcake

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