Genetic and developmental anomalies
Genetic and developmental disorders
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retinoblastoma syndrome
right isomerism
right pulmonary isomerism
sirenomelia apus
thoracoabdominal schisis
Index
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- A
-
- acral peeling skin syndrome
- acrocephalopolysyndactyly type 2
- acrodermatitis enteropathica
- acrorenal-mandibular syndrome
- Adams-Oliver syndrome
- Aicardi syndrome
- Aicardi-Goutieres syndromes
- Alexander disease
- allelic association
- allelic diseases
- Alpers syndrome
- alpha1-anti-trypsine deficiency
- alpha1-antitrypsin deficiency
- Alport syndrome
- Alstrom syndrome
- amish type microcephaly
- anauxetic dysplasia
- Andersen disease
- Angelman syndrome
- animatics in development
- anomalies of dorso-ventral patterning
- anomalies of neural crest migration
- anterior patterning
- Antley-Bixler syndrome
- APCHMGC association
- APECED
- ARC syndrome
- Arima syndrome
- Arts syndrome
- association studies
- assymetry
- ataxia telangiectasia
- autoimmune polyendocrinopathy syndrome type I
- autosomal dominant anhidrotic ectodermal dysplasia and T-cell immunodeficiency
- autosomal dominant diseases
- autosomal dominant periodic fever
- autosomal recessive acrorenal syndrome
- autosomal recessive diseases
- autosomal recessive ichthyosis with hypotrichosis
- autosomal recessive polycystic kidney disease
- autosomal recessive spondylocostal dysostosis
- autosomal visceral heterotaxy
- axial mesodermal dysplasia
- B
-
- Bannayan-Riley-Ruvalcaba syndrome
- Bardet-Biedl syndrome
- Bart-Pumphrey syndrome
- Barth syndrome
- Bartter syndrome
- basal cell nevus syndrome
- Beckwith-Wiedemann syndrome
- Birt-Hogg-Dube syndrome
- birth defects
- blastogenesis
- Bloom syndrome
- blue rubber bleb nevus syndrome
- body axes
- body plans
- branching morphogenesis
- branchiootorenal syndrome
- C
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- C syndrome
- cardiofaciocutaneous syndrome
- Carney complex
- Carney triad
- cartilage-hair hypoplasia
- caudal dysplasia syndrome
- caudal regression syndrome with lumbosacral agenesis
- CD36 deficiency
- CDAGS syndrome
- CEDNIK syndrome
- cellular patterning
- cerebrooculogacioskeletal syndrome
- CHARGE association
- CHILD syndrome
- chondroectodermal disorders
- chromosomal instability syndromes
- chromosomal mosaicism
- clinical genetics
- CNPPB syndrome
- Cockayne syndrome
- codominance
- Coffin-Lowry syndrome
- COFS syndrome
- Cohen syndrome
- cold-induced sweating syndrome
- combined deficiency of coagulation factors V and VIII
- complex traits
- conformational diseases
- Congenital anomalies
- congenital central hypoventilation syndrome
- congenital generalized lipodystrophy
- congenital generalized osteosclerosis with bilateral polymicrogyria
- congenital hepatorenal fibrocystic syndromes
- congenital soft tissue dysplasias
- connective tissue diseases
- constitutional chromosomal anomalies
- Cornelia de Lange syndrome
- Costello syndrome
- Cowden disease
- COX deficiency
- Crawfurd syndrome
- Cri du chat syndrome
- Crigler-Najjar disease
- Crisponi syndrome
- Cumming syndrome
- Currarino syndrome
- cutaneovisceral angiomatosis
- cyclic neutropenia
- Cystic fibrosis
- cystic malformations
- D
-
- Danon disease
- DDP syndrome
- defects in blastogenesis
- Deformations
- Dent disease
- Denys-Drash syndrome
- desminopathies
- Development
- developmental anomalies
- developmental biology
- developmental field
- developmental field defects
- developmental patterning
- diabetes-induced malformations
- DiGeorge syndrome
- digestive polyposis syndromes
- disease susceptibilities
- dominant optic atrophy
- Dubowitz syndrome
- Dunnigan-type familial partial lipodystrophy
- dysmorphism
- dysmorphology
- E
-
- eating behavior
- ectodermal dysplasias
- EDS1
- EDS2
- EDS6
- EDS8
- EDS9
- EDSSPH
- EEC syndrome
- Ehlers-Danlos syndrome type 4
- Ehlers-Danlos syndromes
- Elejalde disease
- Ellis-van Creveld disease
- Embryology
- embryonic development
- enchondromatosis
- endoderm
- endophenotypes
- epidermal nevus syndrome
- epidermolysis bullosa with pyloric atresia
- epigenetic variation
- epigenetics
- epigenetics and aging
- epigenomic dysregulation
- epistasis
- expressivity
- F
-
- Fabry disease
- familial adenomatous polyposis
- familial fatal insomnia
- familial glomuvenous malformation
- familial heterotaxy
- familial mediterranean fever
- familial tumoral calcinosis
- Fanconi disease
- Feingold syndrome
- fetal akinesia sequence
- fibrillinopathies
- fibrinogen storage diseases
- FNSCCRCC
- FOCCHS-LADD
- founder effect
- Francois-Neetens fleck corneal dystrophy
- Fraser syndrome
- Frasier syndrome
- Friedreich ataxia
- frontonasal dysplasia
- functional mapping
- G
-
- G6PD deficiency
- gain-of-function genetic diseases
- Galloway syndrome
- ganglioneuromatoses
- Gardner syndrome
- gastrulation
- gene-association study
- genetic diseases
- genetic heterogeneity
- Genetics
- genic diseases
- genomic disorders
- genotype-phenotype correlation
- gnathodiaphyseal dysplasia
- Goldberg-Shprintzen syndrome
- Goldenhar syndrome
- Goldston syndrome
- gonadal mosaicism
- Gordon syndrome
- Grange syndrome
- Greig cephalopolysyndactyly syndrome
- growth retardations
- H
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- hallux varus
- HANAC syndrome
- harlequin type ichtyosis congenita
- HDR syndrome
- hemangiomatosis
- hemihypertrophy
- Hennekam syndrome
- hereditary hyperfunctions of endocrine cells
- hereditary leiomyomatosis and renal cell cancer syndrome
- Hermansky-Pudlak disease
- heterotaxies
- hidrotic ectodermal dysplasia type 1
- hidrotic ectodermal dysplasia type 2
- hidrotic ectodermal dysplasias
- HMPS1
- HMPS2
- HMPSs
- HNPCC
- Holt-Oram syndrome
- human disorganization complex
- human immunodeficiency with microcephaly
- hydrolethalus syndrome
- hypotrichosis-lymphedema-telangiectasia
- I
-
- IBMPFD
- idiopathic hemihypertrophy
- infantile visceral myopathy
- inherited diseases
- intermediate phenotypes
- intra-abdominal deep soft tissue leiomyoma
- IPEX syndrome
- IQCB1
- isomerisms
- Ivemark syndrome
- J
-
- Jaffe-Campanacci syndrome
- Jeune syndrome
- Johanson-Blizzard syndrome
- Joubert syndrome
- Joubert-related cerebello-oculo-renal syndromes
- JP-HHT syndrome
- juvenile hyaline fibromatosis
- K
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- Kabuki mask syndrome
- Kallmann syndrome type 1
- Kallmann syndrome type 2
- Kallmann syndromes
- Kartagener syndrome
- Klippel-Trenaunay syndrome
- Knobloch syndrome
- Kostmann disease
- L
-
- LADD syndrome
- Larsen disease
- laterality
- lateralization
- LDHCP syndrome
- left isomerism
- left visceral isomerism
- left-right asymmetry
- LEOPARD syndrome
- lethal congenital contracture syndrome 2
- lethal congenital contracture syndromes
- lethal contractural syndrome type 3
- Li-Fraumeni syndrome
- limb-body wall complex
- linkage mapping
- loss-of-function genetic disease
- Lowe syndrome
- M
-
- Maffucci syndrome
- Majeed syndrome
- malformation cluster analysis
- malformation clustering groups
- Malformation databases
- Malformations
- malformative syndromes
- malformative syndromes with ambiguous genitalia
- malignant rhabdoid tumor
- mandibuloacral dysplasia
- Marfan disease
- Marinesco-Sjögren syndrome
- Marles-Chudley syndrome
- Martinez-Frias syndrome
- MASA syndrome
- maternally transmitted diabetes-deafness syndrome
- Matthew-Wood syndrome
- McKusick-Kaufman syndrome
- Meckel syndrome
- megacystis-microcolon-intestinal hypoperistalsis syndrome
- MEHMO
- meiotic recombination
- MELAS
- Melnick-Needles syndrome
- MEN2A
- MEN2B
- MEN2s
- meningioangiomatosis
- mesoderm formation
- metaphyseal dysplasia without hypotrichosis
- microcephalic osteodysplastic primordial dwarfism
- microcoria-congenital nephrosis syndrome
- MIDD
- midline defects
- midline developmental anomalies
- Miller-Dieker syndrome
- miscarriage
- mitochondrial-neuro-gastro-intestinal encephalomyopathy
- MMIH syndrome
- molecular embryology
- monogenic diseases
- monosomy 1p36
- monosomy X
- morphogen gradients
- morphogenesis
- Morphogenesis - Cellular interactions
- mosaic NF1
- Mowat-Wilson syndrome
- Muir-Torre syndrome
- multigenic disease
- multiple cutaneous and mucosal venous malformations
- multiple endocrine neoplasia syndromes
- multiple endocrine neoplasia type 1
- multiple endocrine neoplasia type 2
- multiple endocrine neoplasia type 4
- multivisceral dysplastic syndromes
- muscle-eye-brain disease
- mutator phenotype
- myeloperoxydase deficiency
- myotonic dystrophies
- myotonic dystrophy type 1
- N
-
- nail-patella syndrome
- Nance-Horan syndrome
- neonatal ichthyosis-sclerosing cholangitis syndrome
- Netherton disease
- neural crest
- neural crest cell migration
- neurofibromatoses
- neurofibromatosis type 1
- neurofibromatosis type 2
- neurulation
- NF1-associated malformations
- Nijmegen breakage syndrome
- non-syndromal developmental anomalies
- non-syndromic heterotaxia
- O
-
- OEIS association
- OLEDAID
- oligogenic
- Omenn syndrome
- Opitz-Kaveggia syndrome
- organizers
- Organogenesis
- orofaciodigital syndrome type 1
- orofaciodigital syndrome type 2
- orofaciodigital syndromes
- orofoaciodigital syndrome type 4
- oromandibular-limb hypogenesis
- otopalatodigital syndrome type 2
- OXPHOS diseases
- P
-
- pachyonychia congenita type 1
- Pallister-Hall syndrome
- Pallister-Killian syndrome
- palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal
- papillorenal syndrome
- partial deletion of 21q22.2-q22.3
- paternal-age effect
- pattern formation
- patterning disorders
- PCC syndrome
- Pearson syndrome
- peeling skin syndromes
- Pelizaeus-Merzbacher disease
- Pendred syndrome
- penetrance
- pentalogy of Cantrell
- periodic fever
- Perlman syndrome
- persistence of embryologic structures
- Peutz-Jeghers syndrome
- Pfeiffer syndrome
- PHACES syndrome
- phacomatoses
- Pitt-Hopkins syndrome
- pleiotropism
- pneumogenesis
- Poland syndrome
- Poland syndrome
- polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
- polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
- polytopic field defects
- postnatal growth retardation
- Prader-Willi syndrome
- primary desminopathy
- primary erythermalgia
- progressive tubulointerstitial nephritis and chronic cholestatic liver disease
- propagation
- Proteus syndrome
- pseudoxanthoma elasticum
- PTEN-associated tumor syndromes
- Q
-
- quantitative traits
- R
-
- RAPADILINO syndrome
- rearrangement-based diseases
- renal cysts and diabetes syndrome
- renal-hepatic-pancreatic dysplasia
- reno-pancreatic dysplastic syndromes
- renohepatic dysplasias
- renohepatopancreatic dysplastic syndromes
- renopancreatic dysplastic syndromes
- renopulmonary cystic hamartomata
- retinoblastoma syndrome
- Rett syndrome
- rhabdoid tumor predisposition syndrome
- right isomerism
- right pulmonary isomerism
- Roberts syndrome
- Robinow-Sorauf syndrome
- Rothmund-Thomson syndrome
- RSF syndrome
- Rubinstein-Taybi syndrome
- S
-
- Saethre-Chotzen syndrome
- Sakoda complex
- SC phocomelia syndrome
- Schinzel phocomelia syndrome
- Schinzel-Giedion syndrome
- Seckel syndrome
- Senior-Loken syndrome
- severe congenital neutropenias
- sex determination
- sex differentiation
- short rib-polydactyly syndrome type 1
- short rib-polydactyly syndrome type 4
- short rib-polydactyly syndromes
- short stature
- short-rib polydactyly syndrome type 2
- short-rib polydactyly syndrome type 3
- Shwachman disease
- Silver-Russell syndrome
- Simpson-Golabi-Behmel syndrome
- single-gene diseases with nonclassic inheritance
- sirenomelia apus
- sirenomelia dipus
- sirenomelia unipus
- sirenomelias
- SITCDKP syndrome
- SITRDMF syndrome
- situs ambiguus
- situs anomalies
- situs inversus
- situs solitus
- Smith-Magenis syndrome
- somatic mosaicism
- somatic mutations
- Sotos syndrome
- speciation
- Spemann organizer
- spindle positioning
- sporadic visceral myopathy with inclusion bodies
- Steinfeld syndrome
- storage diseases
- Sturge-Weber syndrome
- systemic primary carnitine deficiency
- T
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- T-cell-mediated autoimmunity
- Taha syndrome
- Tangier disease
- TAR syndrome
- Teebi syndrome
- Thomas syndrome
- thoracoabdominal schisis
- tissular dysplasia
- tissular morphogenesis
- Townes-Brocks syndrome
- traits
- Treacher-Collins syndrome
- trichothiodystrophy
- tuberous sclerosis
- tubular morphogenesis
- tubulogenesis
- tumor predisposition syndromes
- tune deafness
- Turcot syndrome
- U
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- uniparental disomy
- Usher disease type 1
- Usher disease type 3
- Usher diseases
- V
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- vaginal birth
- van den Ende-Gupta syndrome
- Van der Woude syndrome
- VATER-like defects with pulmonary hypertension, abnormal ears, blue sclera, laryngeal webs, and growth deficiency
- vertebral schisis
- visceral hemangiomatosis
- visceral isomerisms
- visceral malformations
- visceral myopathies
- visceral situs inversus
- von Hippel-Lindau disease
- W
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- Waardenburg syndrome type 1
- Waardenburg syndromes
- WAGR syndrome
- Walker-Warburg syndrome
- Weaver syndrome
- Weill-Marchesani syndrome
- Werner syndrome
- Williams-Beuren syndrome
- Wiskott-Aldrich syndrome
- Wolcott-Rallison syndrome
- Wolf-Hirschhorn syndrome
- Wolfram syndrome
- WT limb-blood syndrome
- WT1-associated diseases
- X
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- X-linked agammaglobulinemia
- X-linked diseases
- X-linked dominant diseases
- x-linked ectodermal dysplasia
- X-linked immune diseases
- X-linked mental retardation with a marfanoid habitus
- X-linked midline defect
- X-linked visceral heterotaxy
- xanthinuria type 1
- xanthinuria type 2
- xeroderma pigmentosum
- XPV
- Z
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- Zellweger disease
- Zimmermann-Laband syndrome