| Diseases |
Alias |
|
| Brachydactyly-Syndactyly Syndrome |
|
BDSD
|
Brachydactyly-Syndactyly-Oligodactyly Syndrome
|
|
Brachydactyly-Syndactyly, Zhao Type
|
BDSDO
|
|
|
| Synpolydactyly 1 |
|
SPD1
|
Synpolydactyly Type 1
|
|
Syndactyly, Type Ii
|
Sdty2
|
|
Sd2, Vordingborg Type
|
Sd2a
|
|
Spd, Vordingborg Type
|
Synpolydactyly, Vordingborg Type
|
|
Sdyt2
|
Syndactyly Type 2
|
|
Synpolydactyly, Type 1
|
|
|
| Syndactyly, Type V |
|
Syndactyly Type 5
|
SDTY5
|
|
Syndactyly With Metacarpal And Metatarsal Fusion
|
Syndactyly With Associated Metacarpal And Metatarsal Fusion
|
|
Postaxial Syndactyly With Metacarpal Synostosis
|
Sd5
|
|
Syndactyly 5
|
Syndactyly Type V
|
|
|
| Brachydactyly, Type E1 |
|
Brachydactyly Type E1
|
Brachydactyly Type E
|
|
BDE1
|
Brachydactyly, Type E
|
|
Bde
|
Type E Brachydactyly
|
|
Brachydactyly E1
|
Brachydactyly Syndrome Type E
|
|
|
| Brachydactyly, Type D |
|
Brachydactyly Type D
|
BDD
|
|
Stub Thumb
|
Brachydactyly D
|
|
|
| Synpolydactyly |
|
Syndactyly Type 2
|
Syndactyly, Type 2
|
|
Spd
|
|
|
| Zygodactyly Type 3 |
|
Sd1, Montagu Type
|
Sd1c
|
|
Syndactyly Type 1, Montagu Type
|
Syndactyly Type 1c
|
|
Zygodactyly, Montagu Type
|
|
|
| Chromosome 2q35 Duplication Syndrome |
|
Syndactyly
|
Syndactyly Type 1
|
|
Sdty1
|
Zygodactyly
|
|
Syndactyly, Type I
|
Sd1
|
|
Syndactyly, Type 1, With Or Without Craniosynostosis
|
Symphalangism
|
|
Non-Syndromic Syndactyly
|
Symphalangy
|
|
Webbing Of Digits
|
Syndactyly, Type 1
|
|
|
| Oligospermia |
|
|
| Polydactyly |
|
Non-Syndromic Polydactyly
|
Polydactyly, Postaxial
|
|
Postaxial Polydactyly
|
Supernumerary Digit
|
|
Extra Digits
|
Hyperdactyly
|
|
Polydactylia
|
Polydactylism
|
|
Supernumerary Digits
|
|
|
| Male Infertility |
|
Infertility, Male
|
Infertility Male
|
|
Male Sterility
|
Absolute Infertility
|
|
|
| Vater/Vacterl Association |
|
Vacterl Association
|
Vater Association
|
|
Vacterl/Vater Association
|
VACTERL
|
|
|
| Hand-Foot-Genital Syndrome |
|
Hand-Foot-Uterus Syndrome
|
Hfgs
|
|
Hfg Syndrome
|
Hfu Syndrome
|
|
HFG
|
Hfu
|
|
Hand Foot Uterus Syndrome
|
Hand Foot Genital Syndrome
|
|
|
| Brachydactyly |
|
|
| Brachydactyly, Type A4 |
|
Brachymesophalangy Ii And V
|
Temtamy Type Brachydactyly
|
|
Brachydactyly Type A4
|
BDA4
|
|
Brachymesophalangy 2 And 5
|
Brachydactyly Temtamy Type
|
|
Brachydactyly, Temtamy Type
|
|
|
| Vacterl Association |
|
Vater Association
|
Vater Syndrome
|
|
|
| Hypospadias |
|
Hypospadias Familial
|
Familial Hypospadias
|
|
|
| Brachydactyly, Type A3 |
|
Brachydactyly Type A3
|
BDA3
|
|
Brachydactyly-Clinodactyly
|
Brachymesophalangy V
|
|
Brachymesophalangy 5
|
Brachydactyly Clinodactyly
|
|
|
| Sugarman Brachydactyly |
|
Brachydactyly With Major Proximal Phalangeal Shortening
|
Brachydactyly Of The Hands And Feet With Duplication Of The First Toes
|
|
Sugarman-Hager-Kulik Syndrome
|
Orofaciodigital Syndrome 3
|
|
|
| Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias |
|
Guttmacher Syndrome
|
Preaxial Deficiency, Postaxial Polydactyly And Hypospadias
|
|
Autosomal Dominant Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
|
Preaxial Deficiency-Postaxial Polydactyly-Hypospadias Syndrome
|
|
GUTTS
|
|
|
| Clubfoot |
|
Congenital Talipes Equinovarus
|
Congenital Clubfoot
|
|
Congenital Equinovarus
|
Equinovarus Deformity Of Foot
|
|
Club Foot
|
|
|
| Scarlet Fever |
|
Scarlatina
|
Scarlatina Nos
|
|
|
| Postinflammatory Pulmonary Fibrosis |
|
Post-Inflammatory Pulmonary Fibrosis
|
|
|
| Immunodeficiency 49 |
|
IMD49
|
Severe Combined Immunodeficiency, T Cell-Negative, B Cell-Positive, Nk Cell-Positive, With Intellectual Disability, Spasticity, And Craniofacial Abnormalities
|
|
Scid, T Cell-Negative, B Cell-Positive, Nk Cell-Positive, With Intellectual Disability, Spasticity, And Craniofacial Abnormalities
|
Immunodeficiency 49, Severe Combined
|
|
Scid, T-Cell Negative, B-Cell Positive, Nk Cell Positive, With Intellectual Disability, Spasticity, And Craniofacial Abnormalities
|
Severe Combined Immunodeficiency, T-Cell Negative, B-Cell Positive, Nk Cell Positive, With Intellectual Disability, Spasticity, And Craniofacial Abnormalities
|
|
Scid, T-Cell-Negative, B-Cell-Positive, Nk-Cell-Positive, With Intellectual Disability, Spasticity, And Craniofacial Abnormalities
|
|
|
| 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
|
|
|
| Anus, Imperforate |
|
Imperforate Anus
|
Anorectal Malformation
|
|
Anal Atresia
|
Anorectal Malformations
|
|
Congenital Atresia Of Anus
|
Congenital Or Infantile Occlusion Of Anus
|
|
Anal Stenosis
|
Arm
|
|
|
| Hypertension And Brachydactyly Syndrome |
|
Brachydactyly With Hypertension
|
Bilginturan Syndrome
|
|
HTNB
|
Brachydactyly-Arterial Hypertension Syndrome
|
|
Brachydactyly, Type E, With Short Stature And Hypertension
|
Bilginturan Brachydactyly
|
|
Brachydactyly Type E With Short Stature And Hypertension
|
Type E Brachydactyly With Short Stature And Hypertension
|
|
Brachydactyly Type E, With Short Stature And Hypertension
|
Hypertension With Brachydactyly
|
|
|
| Glaucomatocyclitic Crisis |
|
Posner-Schlossman Syndrome
|
Terrien-Viel Syndrome
|
|
|
| Microphthalmia, Syndromic 6 |
|
MCOPS6
|
Microphthalmia And Pituitary Anomalies
|
|
Microphthalmia With Brain And Digit Anomalies
|
Microphthalmia With Brain And Digit Developmental Anomalies
|
|
Syndromic Microphthalmia Type 6
|
Syndromic Microphthalmia 6
|
|
Anophthalmia Clinical With Micrognathia Malformed Ears Digital Anomalies And Abnormal External Genitalia
|
Bakrania-Ragge Syndrome
|
|
Orofacial Cleft 11
|
Anophthalmia, Clinical, With Micrognathia, Malformed Ears, Digital Anomalies, And Abnormal External Genitalia
|
|
Microphthalmia Syndromic 6
|
Microphthalmia, Syndromic, 6
|
|
Clinical Anophthalmia With Micrognathia, Malformed Ears, Digital Anomalies And Abnormal External Genitalia
|
Microphthalmia Syndromic, Type 6
|
|
|
| Syndactyly, Type Iv |
|
Syndactyly Type 4
|
Polysyndactyly, Haas Type
|
|
SDTY4
|
Haas Type Syndactyly
|
|
Sd4
|
Polysyndactyly Type Haas
|
|
Syndactyly 4
|
Polysyndactyly Haas Type
|
|
Syndactyly Type Iv
|
|
|
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Hypoplastic Or Aplastic Tibia With Polydactyly
|
Absence Of Tibia With Polydactyly
|
|
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
|
THYP
|
|
Tibial Hemimelia-Polydactyly-Triphalangeal Thumbs With Fibular Dimelia
|
Absent Tibia-Polydactyly Syndrome
|
|
Werner Mesomelic Syndrome
|
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
|
|
Polydactyly With Absent Tibia
|
Werner Mesomelic Spectrum
|
|
Hypoplasia Or Aplasia Of Tibia With Polydactyly
|
Wms
|
|
Tibia, Hypoplasia Of, With Polydactyly
|
|
|
| Holoprosencephaly 5 |
|
HPE5
|
Holoprosencephaly-5
|
|
Holoprosencephaly, Type 5
|
|
|
| Brachydactyly, Type C |
|
Brachydactyly Type C
|
BDC
|
|
Brachydactyly Haws Type
|
Brachydactyly, Haws Type
|
|
Brachydactyly C
|
|
|
| Chromosomal Duplication Syndrome |
|
|
| 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
|
|
|
| 46,Xy Sex Reversal 8 |
|
SRXY8
|
Male Pseudohermaphroditism Due To Deficiency Of Testicular 17,20-Desmolase
|
|
Tdd
|
46,Xy Disorder Of Sex Development Due To Testicular 17,20-Desmolase Deficiency
|
|
46xy Sex Reversal 8
|
46xy Sex Reversal 8, Modifier Of
|
|
Male Pseudohermaphroditism: Deficiency Of Testicular 17,20-Desmolase
|
|
|
| Bone Development Disease |
|
|
| Synostosis |
|
|
| Acrodysostosis |
|
Acrodysplasia
|
Arkless-Graham Syndrome
|
|
Maroteaux-Malamut Syndrome
|
Nasal Hypoplasia-Peripheral Dysostosis-Intellectual Disability Syndrome
|
|
Peripheral Dysostosis-Nasal Hypoplasia-Intellectual Disability Syndrome
|
|
|
| Greig Cephalopolysyndactyly Syndrome |
|
GCPS
|
Polysyndactyly With Peculiar Skull Shape
|
|
Polysyndactyly With Peculiars Skull Shape
|
Greig Syndrome
|
|
Cephalopolysyndactyly Syndrome
|
Greig Cephalo-Poly-Syndactyly Syndrome
|
|
Cephalopolysyndactyly, Greig Syndrome
|
Aarskog Syndrome
|
|
|
| Type 1 Diabetes Mellitus 21 |
|
Diabetes Mellitus, Insulin-Dependent, 21
|
Iddm21
|
|
T1D21
|
Insulin-Dependent Diabetes Mellitus 21
|
|
|
| Currarino Syndrome |
|
Currarino Triad
|
Partial Sacral Agenesis With Intact First Sacral Vertebra, Presacral Mass And Anorectal Malformation
|
|
CURRAS
|
|
|
| Laurin-Sandrow Syndrome |
|
Sandrow Syndrome
|
Tetramelic Mirror-Image Polydactyly
|
|
Mirror-Image Polydactyly
|
Mirror Hands And Feet With Nasal Defects
|
|
Tmip
|
LSS
|
|
Mip
|
Mirror Hands And Feets-Nasal Defects Syndrome
|
|
Fibula And Ulna, Duplication Of, With Absence Of Tibia And Radius
|
Miccor Hands And Feet With Nasal Defects
|
|
Mipduplication Of Fibuland Ulna With Absence Of Tibia And Radius
|
Fibula Ulna Duplication Tibia Radius Absence
|
|
Laurin Sandrow Syndrome
|
Duplication Of Fibula And Ulna With Absence Of Tibia And Radius
|
|
Segmental Laurin-Sandrow Syndrome
|
Laurin-Sandrow Syndrome, Segmental
|
|
|
| Pallister-Hall Syndrome |
|
PHS
|
Hypothalamic Hamartomas
|
|
Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, And Postaxial Polydactyly
|
Hypothalamic Hamartoblastoma Syndrome
|
|
Hamartoma Of The Hypothalamus
|
Pallister Hall Syndrome
|
|
Hall-Pallister Syndrome
|
Hypothalamic Hamartoblastoma Hypopituitarism Imperforate Anus And Postaxial Polydactyly
|
|
Hamartoma, Hypothalamic
|
|
|
| Dysostosis |
|
|
| Chromosome 2q37 Deletion Syndrome |
|
Albright Hereditary Osteodystrophy-Like Syndrome
|
2q37 Microdeletion Syndrome
|
|
Brachydactyly-Intellectual Disability Syndrome
|
Deletion 2q37
|
|
2q37 Deletion Syndrome
|
Brachydactyly-Mental Retardation Syndrome
|
|
Bdmr
|
Albright Hereditary Osteodystrophy Type 3
|
|
Del(2)(Q37)
|
Monosomy 2q37qter
|
|
Albright'S Hereditary Osteodystrophy-Like Syndrome
|
Monosomy 2q37
|
|
Chromosome Deletion Syndrome 2q37
|
|
|
| Anus Disease |
|
Anal Fissure
|
Ulcer Of Anus
|
|
Anus Diseases
|
Anal Disease
|
|
Anal Fissure And Fistula
|
Anal Ulcer
|
|
Fissure In Ano
|
Nontraumatic Tear Of Anus
|
|
Solitary Anal Ulcer
|
Abnormality Of The Anus
|
|
Anal Disorders
|
Ulcer Of Anus And Rectum
|
|
Solitary Ulcer Of Anus
|
Stercoral Ulcer Of Anus
|
|
|
| Townes-Brocks Syndrome |
|
Townes Syndrome
|
Renal-Ear-Anal-Radial Syndrome
|
|
Anus, Imperforate, With Hand, Foot And Ear Anomalies
|
Imperforate Anus-Hand, Foot And Ear Anomalies Syndrome
|
|
Rear Syndrome
|
Sensorineural Deafness With Imperforate Anus And Hypoplastic Thumbs
|
|
Tbs
|
Deafness, Sensorineural, With Imperforate Anus And Hypoplastic Thumbs
|
|
Imperforate Anus With Hand, Foot And Ear Anomalies
|
Anal-Ear-Renal-Radial Malformation Syndrome
|
|
Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome
|
Imperforate Anus-Hand And Foot Anomalies Syndrome
|
|
Sensorineural Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome
|
Sensorineural Hearing Loss With Imperforate Anus And Hypoplastic Thumbs
|
|
|
| Brachydactyly, Type A1 |
|
Brachydactyly Type A1
|
BDA1
|
|
Farabee-Type Brachydactyly
|
Farabee Type Brachydactyly
|
|
Brachydactyly Farabee Type
|
Brachydactyly, Farabee Type
|
|
Brachydactyly A1
|
Brachydactyly
|
|
|
| Sacral Defect With Anterior Meningocele |
|
Caudal Regression Syndrome
|
Caudal Regression Sequence
|
|
Sacral Agenesis
|
Caudal Dysgenesis Syndrome
|
|
SDAM
|
Caudal Dysplasia Sequence
|
|
Caudal Dysplasia
|
Sacral Agenesis Syndrome
|
|
Sacral Regression Syndrome
|
Sacral Defect And Anterior Sacral Meningocele
|
|
Rudd Klimek Syndrome
|
Sirenomelia
|
|
|
| Chromosomal Disease |
|
Chromosomal Disorders
|
Congenital Chromosomal Disease
|
|
|
| Esophageal Atresia |
|
Tracheoesophageal Fistula
|
Congenital Atresia Of Esophagus
|
|
Congenital Imperforate Esophagus
|
Imperforate Esophagus
|
|
Oesophageal Atresia
|
Te Fistula
|
|
Tef
|
Tracheoesophageal Fistula With Or Without Esophageal Atresia
|
|
|
| Congenital Central Hypoventilation Syndrome |
|
Cchs
|
Haddad Syndrome
|
|
Ondine Curse
|
Ondine Syndrome
|
|
Congenital Central Hypoventilation
|
Congenital Central Alveolar Hypoventilation Syndrome
|
|
Congenital Failure Of Autonomic Control
|
Ondine'S Curse
|
|
Primary Alveolar Hypoventilation
|
Ondine-Hirschsprung Disease
|
|
Central Congenital Hypoventilation Syndrome
|
Congenital Ondine Curse
|
|
Idiopathic Congenital Central Alveolar Hypoventilation
|
Congenital Central Alveolar Hypoventilation-Hirschsprung Disease Syndrome
|
|
Ondine-Hirschsprung Syndrome
|
|
|
