| Diseases |
Alias |
|
| Leri-Weill Dyschondrosteosis |
|
LWD
|
Dyschondrosteosis
|
|
Dco
|
Léri-Weill Dyschondrosteosis
|
|
Leri Weill Dyschondrosteosis
|
Leri-Weill Syndrome
|
|
Leri-Weil Syndrome
|
Dyschondrosteosis, Leri-Weill
|
|
|
| Langer Mesomelic Dysplasia |
|
LMD
|
Dyschondrosteosis, Homozygous
|
|
Mesomelic Dwarfism Of The Hypoplastic Ulna, Fibula, And Mandible Type
|
Langer Mesomelic Dysplasia Syndrome
|
|
Mesomelic Dwarfism Of The Hypoplastic Ulna, Fibula And Mandible Type
|
Dyschondrosteosis Homozygous
|
|
Langer Mesomelic Dwarfism
|
Mesomelic Dwarfism, Langer Type
|
|
Dysplasia, Mesomelic, Langer
|
|
|
| Short Stature, Idiopathic, X-Linked |
|
ISS
|
Short Stature, Idiopathic Familial
|
|
Stature, Short, Idiopathic Familial
|
|
|
| Shox-Related Short Stature |
|
Idiopathic Familial Short Stature
|
|
|
| Turner Syndrome |
|
Monosomy X
|
Gonadal Dysgenesis Turner Type
|
|
Ullrich-Turner Syndrome
|
Bonnevie-Ullrich Syndrome
|
|
Karyotype 45, X
|
Genital Dwarfism, Turner Type
|
|
Gonadal Dysgenesis
|
45,X
|
|
Turner'S Syndrome
|
Gonadal Dysgenesis - Turner
|
|
Monosomy X Syndrome
|
Xo Syndrome
|
|
Genital Dwarfism
|
45, X Syndrome
|
|
Bonnevie-Ulrich Syndrome
|
Chromosome X Monosomy X
|
|
Schereshevkii Turner Syndrome
|
Turner Varny Syndrome
|
|
Ts
|
45,X Syndrome
|
|
45,X/46,Xx Syndrome
|
Turners Syndrome
|
|
Gonadal Dysgenesis, 45,X
|
X0 Syndrome
|
|
|
| Madelung Deformity |
|
|
| Hypochondroplasia |
|
HCH
|
Hypochondrodysplasia
|
|
Chondrogenesis Imperfecta
|
Hypochondroplastic Dwarfism
|
|
Hypochondroplastic Short Stature
|
|
|
| Connective Tissue Disease |
|
Connective Tissue Diseases
|
Connective Tissue Disorder
|
|
Abnormality Of Connective Tissue
|
Disorder Of Connective Tissue
|
|
Connective Tissue Disorders
|
|
|
| Shox Deficiency Disorders |
|
|
| Eunuchism |
|
|
| Mesomelic Dysplasia, Kantaputra Type |
|
Mdk
|
MMDK
|
|
Mesomelic Dysplasia, Thai Type
|
Kantaputra Mesomelic Dysplasia
|
|
Mesomelic Dysplasia With Ankle, Carpal, And Tarsal Synostosis
|
Mesomelic Dysplasia Kantaputra Type
|
|
Mesomelic Dysplasia Thai Type
|
Mesomelic Dysplasia With Ankle Carpal And Tarsal Synostosis
|
|
|
| Blount'S Disease |
|
Blount Disease
|
Tibia Vara
|
|
Osteochondrosis Deformans Tibiae
|
Osteochondrosis Deformans Tibiae, Familial Infantile Type
|
|
Familial Infantile Type Osteochondrosis Deformans Tibiae
|
Blount-Barber Syndrome
|
|
Erlacher-Blount Syndrome
|
Infantile Tibia Vara
|
|
Tibia Vara Blount
|
Blount Disease, Infantile
|
|
|
| Achondroplasia |
|
Achondroplastic Dwarfism
|
ACH
|
|
Osteosclerosis Congenita
|
Achondroplastic Physique
|
|
Chondrodystrophia
|
Dwarf, Achondroplastic
|
|
Achondroplastic Short Stature
|
Congenital Osteosclerosis
|
|
|
| Osteochondrodysplasia |
|
Skeletal Dysplasia
|
Chondrodystrophy
|
|
Congenital Anomaly Of Cartilage
|
Osteochondrodysplasias
|
|
Cartilage Development Disorder
|
Osteochondrodysplasia Syndrome
|
|
Dysplasia, Skeletal
|
Mucopolysaccharidosis Iv
|
|
|
| Spondyloepiphyseal Dysplasia, Kimberley Type |
|
SEDK
|
Spondyloepiphyseal Dysplasia Kimberley Type
|
|
Spondyloepiphyseal Dysplasia Type Kimberley
|
Dysplasia, Spondyloepiphyseal, Kimberley Type
|
|
|
| Isolated Growth Hormone Deficiency, Type Ia |
|
Ighd Ia
|
Primordial Dwarfism
|
|
Isolated Growth Hormone Deficiency Type Ia
|
Sexual Ateleiotic Dwarfism
|
|
Pituitary Dwarfism I
|
IGHD1A
|
|
Illig-Type Growth Hormone Deficiency
|
Growth Hormone Deficiency, Isolated, Type Ia
|
|
Congenital Ighd Type Ia
|
Congenital Isolated Gh Deficiency Type Ia
|
|
Congenital Isolated Growth Hormone Deficiency Type Ia
|
Pituitary Dwarfism 1
|
|
Growth Hormone Deficiency, Isolated, Autosomal Recessive
|
Autosomal Recessive Isolated Growth Hormone Deficiency
|
|
Isolated Growth Hormone Deficiency Type 1a
|
Congenital Ighd
|
|
Congenital Isolated Gh Deficiency
|
Congenital Isolated Growth Hormone Deficiency
|
|
Growth Hormone Deficiency, Isolated Autosomal Recessive
|
Illig Type Growth Hormone Deficiency
|
|
Non-Acquired Isolated Growth Hormone Deficiency
|
Growth Hormone Deficiency, Isolated, 1a
|
|
Growth Hormone Deficiency Isolated Autosomal Recessive
|
Dwarfism, Primordial
|
|
Dwarfism
|
|
|
| Acromesomelic Dysplasia 1 |
|
Acromesomelic Dysplasia, Maroteaux Type
|
Amdm
|
|
Acromesomelic Dysplasia 1, Maroteaux Type
|
AMD1
|
|
St. Helena Dysplasia
|
Acromesomelic Dysplasia-1
|
|
Acromesomelic Dysplasia Maroteaux Type
|
Acromesomelic Dwarfism Maroteux Type
|
|
Dysplasia, Acromesomelic, Type 1, Maroteaux
|
Acromesomelic Dysplasia Hunter-Thompson Type
|
|
|
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Spondylometaphyseal Dysplasia
|
Strudwick Syndrome
|
|
Dappled Metaphysis Syndrome
|
Semd, Strudwick Type
|
|
Spondylometaepiphyseal Dysplasia Congenita, Strudwick Type
|
Smed, Strudwick Type
|
|
Smd
|
Smed Strudwick Type
|
|
SEMDSTWK
|
Smed, Type I
|
|
Semdc
|
Smed Type 1
|
|
Spondyloepimetaphyseal Dysplasia Strudwick Type
|
Sed Strudwick
|
|
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
|
Smed Type I
|
|
Spondyloepiphyseal Dysplasia Congenita With Dappled Metaphyses
|
Dysplasia, Spondyloepimetaphyseal, Strudwick Type
|
|
Dysplasia, Spondylometaphyseal
|
|
|
| Raynaud-Claes Syndrome |
|
Mrx49
|
MRXSRC
|
|
Mental Retardation, X-Linked 49
|
Mrx15
|
|
Clcn4-Related X-Linked Intellectual Disability Syndrome
|
Mental Retardation, X-Linked 15
|
|
X-Linked Mental Retardation 15
|
X-Linked Mental Retardation 49
|
|
Mental Retardation, X-Linked-49
|
|
|
| Phelan-Mcdermid Syndrome |
|
Chromosome 22q13.3 Deletion Syndrome
|
22q13.3 Deletion Syndrome
|
|
Telomeric 22q13 Monosomy Syndrome
|
PHMDS
|
|
Deletion 22q13 Syndrome
|
22q13.3 Deletion
|
|
Deletion 22q13.3 Syndrome
|
Monosomy 22q13
|
|
Monosomy 22q13.3
|
22q13 Deletion Syndrome
|
|
Monosomy 22q13 Syndrome
|
22q13 Deletion
|
|
Chromosome Deletion
|
|
|
| Bone Development Disease |
|
|
| Acromesomelic Dysplasia |
|
Acromesomelic Dwarfism
|
Dysplasia, Acromesomelic
|
|
Acromesomelic Dysplasia Hunter-Thompson Type
|
|
|
| Cerebral Hemisphere Lipoma |
|
Lipoma Of The Cerebral Hemisphere
|
|
|
| Corpus Callosum Lipoma |
|
Lipoma Of The Corpus Callosum
|
Lipoma Of Corpus Callosum
|
|
|
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Murcs Association
|
Mayer-Rokitansky-Kuster-Hauser Syndrome Type 2
|
|
Mrkh Syndrome Type 2
|
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
|
|
MURCS
|
Klippel-Feil Deformity, Conductive Deafness, And Absent Vagina
|
|
Atypical Mrkh Syndrome
|
Mullerian Duct Aplasia-Renal Dysplasia-Cervical Somite Anomalies Syndrome
|
|
Mayer-Rokitansky-Kuster-Hauser Syndrome, Type Ii
|
Mrkh, Type Ii
|
|
Mullerian Duct Aplasia, Unilateral Renal Aplasia, And Cervicothoracic Somite Dysplasia
|
Klippel-Feil Deformity - Conductive Deafness - Absent Vagina
|
|
Müllerian Aplasia - Renal Aplasia - Cervicothoracic Somite Dysplasia
|
|
|
| Hypogonadotropic Hypogonadism |
|
Klinefelter Syndrome
|
Klinefelter'S Syndrome
|
|
Xxy Syndrome
|
Xxy Trisomy
|
|
Hypogonadotropism
|
47, Xxy
|
|
Congenital Idiopathic Hypogonadotropic Hypogonadism
|
Isolated Congenital Gonadotropin Deficiency
|
|
47,Xxy Syndrome
|
47, Xxy Syndrome
|
|
Klinefelters Syndrome
|
Hypogonadism
|
|
Klinefelter Syndrome In Males
|
Klinefelter Syndrome, Unspecified
|
|
Klinefelter Syndrome Karyotype 47, Xxy
|
|
|
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Mrkh Syndrome
|
Rokitansky Syndrome
|
|
Mullerian Aplasia
|
Mrkh Anomaly
|
|
Congenital Absence Of Uterus And Vagina
|
Congenital Absence Of The Uterus And Vagina
|
|
Genital Renal Ear Syndrome
|
Mayer-Rokitansky-Küster-Hauser Syndrome
|
|
Mullerian Dysgenesis
|
Müllerian Agenesis
|
|
Rokitansky Kuster Hauser Syndrome
|
MRKH
|
|
Mullerian Aplasia/Dysgenesis
|
Von Mayer-Rokitansky-Kuster Anomaly
|
|
Mrk Anomaly
|
Uterus Bipartitus Solidus Rudimentarius Cum Vagina Solida
|
|
Cauv
|
Mullerian Agenesis
|
|
Aplasia Of The Mullerian Ducts
|
Mullerian Duct Failure
|
|
Müllerian Aplasia
|
Rokitansky-Kuster-Hauser Syndrome
|
|
RKH SYNDROME
|
|
|
| Scoliosis |
|
|
| Clubfoot |
|
Congenital Talipes Equinovarus
|
Congenital Clubfoot
|
|
Congenital Equinovarus
|
Equinovarus Deformity Of Foot
|
|
Club Foot
|
|
|
| Eiken Syndrome |
|
Eiken Skeletal Dysplasia
|
Bone Modeling Defect Of Hands And Feet
|
|
EKNS
|
|
|
| Mixed Gonadal Dysgenesis |
|
Gonadal Dysgenesis Mixed
|
Gonadal Dysgenesis, Mixed
|
|
|
| Chondrodysplasia Punctata Syndrome |
|
Chondrodysplasia Punctata
|
Chondrodysplasia Punctata Congenita
|
|
Toriello Higgins Miller Syndrome
|
Chondrodysplasia Punctata, Toriello Type
|
|
Toriello-Higgins-Miller Syndrome
|
Cdp
|
|
Chondrodysplasia Punctata, X-Linked Dominant Type
|
Chondrodysplasia Punctata Group
|
|
Dysplasia Punctata Epiphysis
|
Dysplasia Punctata
|
|
Dysplasia Epiphysealis Punctata
|
Chondrodystrophy Of Punctata
|
|
|
| Disorder Of Sexual Development |
|
Disorder Of Sex Development
|
Disorders Of Sex Development
|
|
Sex Development Disorder
|
Sex Differentiation Disease
|
|
Dsd
|
Sex Differentiation Disorders
|
|
|
| Gonadal Dysgenesis |
|
Gonadal Dysgenesis Syndrome
|
Turner Syndrome
|
|
|
| Rasopathy |
|
Ras/Mitogen-Activated Protein Kinase Syndrome
|
|
|
| Thanatophoric Dysplasia, Type I |
|
Thanatophoric Dysplasia
|
Thanatophoric Dwarfism
|
|
Thanatophoric Dysplasia Type 1
|
TD1
|
|
Td
|
Thanatophoric Short Stature
|
|
Thanatophoric Dwarfism Type 1
|
Thanatophoric Dysplasia Type I
|
|
Platyspondylic Lethal Skeletal Dysplasia, San Diego Type
|
Lethal Short-Limbed Platyspondylic Dwarfism, San Diego Type
|
|
Skeletal Dysplasia, San Diego Type
|
Plsd San Diego Type
|
|
Thanatophoric Dwarfism 1
|
Dwarfism Thanatophoric
|
|
Dwarf, Thanatophoric
|
Thanatophoric Dysplasia 1
|
|
Lethal Short-Limbed Platyspondylic Dwarfism San Diego Type
|
Platyspondylic Lethal Skeletal Dysplasia San Diego Type
|
|
Thanatophoric Dwarf
|
Thanatophoric Dwarfism Or Short Stature
|
|
Thanatophoric Dwarfism Syndrome
|
Td - [Thanatophoric Dwarfism]
|
|
|
| Three M Syndrome 1 |
|
3-M Syndrome
|
Yakut Short Stature Syndrome
|
|
3m Syndrome
|
Le Merrer Syndrome
|
|
Dolichospondylic Dysplasia
|
Gloomy Face Syndrome
|
|
Three M Syndrome
|
3M1
|
|
3m Syndrome 1
|
Miller-Mckusick-Malvaux Syndrome
|
|
3-Msbn
|
Three-M Slender-Boned Nanism
|
|
Miller-Mckusick-Malvaux-Syndrome
|
3-M Syndrome 1
|
|
3m Syndrome-1
|
3m Syndrome, Type 1
|
|
Dwarfism
|
Dwarfism Tall Vertebrae
|
|
|
| Chromosomal Duplication Syndrome |
|
|
| Campomelic Dysplasia |
|
Acampomelic Campomelic Dysplasia
|
Camptomelic Dysplasia
|
|
Campomelic Dysplasia With Autosomal Sex Reversal
|
Cmpd
|
|
CMD1
|
Cmpd1
|
|
Cmpd1/Sra1
|
Acampomelic Campomelic Dysplasia With Autosomal Sex Reversal
|
|
Campomelic Dwarfism
|
Campomelic Syndrome
|
|
Dysplasia, Campomelic
|
Chronic Myeloproliferative Disorder
|
|
Familial Dilated Cardiomyopathy
|
|
|
| Chromosomal Disease |
|
Chromosomal Disorders
|
Congenital Chromosomal Disease
|
|
|
| Silver-Russell Syndrome 1 |
|
Silver-Russell Syndrome
|
Russell-Silver Syndrome
|
|
Silver-Russell Dwarfism
|
Rss
|
|
SRS1
|
Srs
|
|
Silver Russell Dwarfism
|
Russell Silver Syndrome
|
|
Silver Russell Syndrome
|
|
|
| Spermatogenic Failure |
|
Azoospermia
|
Spgf
|
|
Spermatogenic Failure, Susceptibility To
|
Absent Sperm
|
|
Aspermatogenesis
|
Infertility Due To Azoospermia
|
|
Hypospermatogenesis
|
Azoospermatism
|
|
|
| Noonan Syndrome 1 |
|
Noonan Syndrome
|
NS1
|
|
Male Turner Syndrome
|
Female Pseudo-Turner Syndrome
|
|
Turner Phenotype With Normal Karyotype
|
Noonan Syndrome With Pigmented Villonodular Synovitis
|
|
Turner'S Phenotype, Karyotype Normal
|
Familial Turner Syndrome
|
|
Noonan'S Syndrome
|
Noonan-Ehmke Syndrome
|
|
Ns
|
Pseudo-Ullrich-Turner Syndrome
|
|
Turner Syndrome In Female With X Chromosome
|
Turner-Like Syndrome
|
|
Ullrich-Noonan Syndrome
|
Noonan-Like/Multiple Giant Cell Lesion Syndrome
|
|
Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions
|
Pterygium Colli Syndrome
|
|
Noonan Syndrome, Type 1
|
Turner Syndrome, Male
|
|
|
| Kallmann Syndrome |
|
Hypogonadism With Anosmia
|
Kallman'S Syndrome
|
|
Anosmic Hypogonadism
|
Anosmic Idiopathic Hypogonadotropic Hypogonadism
|
|
Hypogonadotropic Hypogonadism And Anosmia
|
Hypogonadotropic Hypogonadism-Anosmia Syndrome
|
|
Olfacto-Genital Pathological Sequence
|
Familial Hypogonadism With Anosmia
|
|
Kallman Syndrome
|
Dysplasia Olfactogenitalis Of De Morsier
|
|
Kallmann'S Syndrome
|
Congenital Hypogonadotropic Hypogonadism With Anosmia
|
|
|
| Autism |
|
Autistic Disorder
|
Autism Susceptibility 1
|
|
Childhood Autism
|
Autistic Disorder Of Childhood Onset
|
|
Infantile Autism
|
Kanner'S Syndrome
|
|
Autistic
|
|
|
| Prader-Willi Syndrome |
|
Prader-Labhart-Willi Syndrome
|
PWS
|
|
Willi-Prader Syndrome
|
Prader-Willi Syndrome Due To Translocation
|
|
Prader-Willi Syndrome Due To Imprinting Mutation
|
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
|
|
Prader Willi Syndrome
|
Upd(15)Mat
|
|
|
| Cryptorchidism, Unilateral Or Bilateral |
|
Cryptorchidism
|
Undescended Testicle
|
|
Undescended Testis
|
Cryptorchism
|
|
Undescended Testicles
|
CRYPTO
|
|
Impaired Testicular Descent
|
Cryptosporidiosis
|
|
Retained Testis
|
Unilateral Cryptorchidism
|
|
Unilateral Undescended Testis
|
Nondescent Unilateral Testicle
|
|
Unilateral Cryptorchism
|
Ectopic Testis, Unilateral
|
|
Bilateral Cryptorchidism
|
Bilateral Cryptorchism
|
|
Bilateral Nondescent Testicle
|
Bilateral Undescended Testes
|
|
Bilateral Ectopic Testes
|
|
|
