| Diseases |
Alias |
|
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Blepharophimosis, Ptosis, And Epicanthus Inversus Syndrome
|
BPES
|
|
Blepharophimosis Syndrome
|
Blepharophimosis, Epicanthus Inversus, And Ptosis, Type 1
|
|
Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome
|
Bpes With Duane Retraction Syndrome
|
|
Blepharophimosis, Ptosis, And Epicanthus Inversus Syndrome Type 2
|
Blepharophimosis, Ptosis, And Epicanthus Inversus Syndrome Type 1
|
|
Blepharophimosis, Epicanthus Inversus, And Ptosis, Type 2
|
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome
|
|
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type 2
|
Bpes Type 2
|
|
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Without Premature Ovarian Failure
|
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
|
|
3q23 Microdeletion Syndrome
|
Bpes Plus
|
|
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type 1
|
Bpes Type 1
|
|
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome With Premature Ovarian Failure
|
Blepharophimosis, Ptosis, Epicanthus Inversus
|
|
Autosomal Dominant Bpes Type I
|
Autosomal Recessive Bpes Type I
|
|
Bpes Type I
|
Bpes Type Ii
|
|
Bpes Without Ovarian Failure
|
Bpes With Ovarian Failure
|
|
Blepharophimosis Syndrome Type 1
|
Blepharophimosis Syndrome Type 2
|
|
|
| Premature Ovarian Failure 3 |
|
POF3
|
Ovarian Failure, Premature, Type 3
|
|
|
| Maligant Granulosa Cell Tumor Of The Ovary |
|
Granulosa Cell Cancer
|
Granulosa Cell Malignant Tumor
|
|
Maligant Granulosa Cell Tumor Of Ovary
|
|
|
| Genetic Non-Acquired Premature Ovarian Failure |
|
|
| Blepharophimosis |
|
|
| Epicanthus |
|
|
| Ovarian Disease |
|
Ovarian Dysfunction
|
Ovarian Diseases
|
|
Ovarian Disorders
|
Disorder Of Endocrine Ovary
|
|
|
| Eyelid Disease |
|
Eyelid Diseases
|
Eyelid Disorders
|
|
|
| Testicular Granulosa Cell Tumor |
|
Granulosa Cell Tumor Of Testis
|
Granulosa Cell Tumour Of Testis
|
|
Testicular Granulosa Cell Tumour
|
|
|
| Juvenile Type Testicular Granulosa Cell Tumor |
|
Juvenile Granulosa Cell Tumor
|
Juvenile Granulosa Cell Tumour
|
|
Juvenile Type Granulosa Cell Neoplasm
|
Juvenile Type Granulosa Cell Tumor
|
|
Juvenile Type Granulosa Cell Tumour
|
Juvenile Type Testicular Granulosa Cell Tumour
|
|
|
| Ovarian Sex-Cord Stromal Tumor |
|
Ovarian Sex Cord Tumor With Annular Tubules
|
Ovarian Sex Cord-Stromal Tumor
|
|
Stromal Tumor Of Ovary
|
|
|
| Premature Ovarian Failure 1 |
|
Ovarian Failure, Premature
|
Fmr1-Related Primary Ovarian Insufficiency
|
|
Fragile X-Associated Primary Ovarian Insufficiency
|
POF1
|
|
Pofx
|
Hypergonadotropic Ovarian Failure, X-Linked
|
|
Pof
|
Primary Ovarian Insufficiency, Fragile X-Associated
|
|
Primary Ovarian Insufficiency 1
|
Ovarian Failure Premature
|
|
Premature Ovarian Failure, X-Linked
|
Fragile X Premature Ovarian Failure
|
|
Fmr1-Related Premature Ovarian Failure
|
Familial Premature Ovarian Failure
|
|
Idiopathic Familial Premature Ovarian Failure
|
Fxpoi
|
|
X-Linked Hypergonadotropic Ovarian Failure
|
Hypergonadotropic Ovarian Failure X-Linked
|
|
Poi
|
Premature Ovarian Failure X-Linked
|
|
Primary Ovarian Insufficiency
|
Premature Ovarian Failure-1
|
|
Ovarian Failure, Premature, Type 1
|
Premature Ovarian Failure, Familial
|
|
Premature Menopause
|
Primary Hypogonadism
|
|
Turner Syndrome
|
|
|
| Ptosis |
|
Blepharoptosis
|
Drooping Eyelid
|
|
Droopy Eyelid
|
Ptosis Of Eyelid
|
|
Paralysis Of Levator Palpebrae Superioris
|
|
|
| Gonadoblastoma |
|
|
| Ovarian Wilms' Cancer |
|
|
| Hermaphroditism |
|
|
| Gonadal Dysgenesis |
|
Gonadal Dysgenesis Syndrome
|
Turner Syndrome
|
|
|
| Disorder Of Sexual Development |
|
Disorder Of Sex Development
|
Disorders Of Sex Development
|
|
Sex Development Disorder
|
Sex Differentiation Disease
|
|
Dsd
|
Sex Differentiation Disorders
|
|
|
| Combined Oxidative Phosphorylation Deficiency 5 |
|
COXPD5
|
Hypotonia With Lactic Acidemia And Hyperammonemia
|
|
Combined Oxidative Phosphorylation Defect Type 5
|
Combined Oxidative Phosphorylation Deficiency, Type 5
|
|
|
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
GDACCF
|
Developmental Disabilities
|
|
|
| Amenorrhea |
|
Absence Of Menstruation
|
Amenia
|
|
|
| Marcus Gunn Phenomenon |
|
Jaw-Winking Syndrome
|
Marcus-Gunn Syndrome
|
|
Jaw-Winking
|
Maxillopalpebral Synkinesis
|
|
Abnormal Innervation Syndrome Of Eyelid
|
Jaw-Blinking
|
|
Pterygoid-Levator Synkinesis
|
Familial Marcus Gunn Phenomenon
|
|
Marcus Gunn Syndrome
|
Mandibulo-Palpebral Synkinesis-Ptosis Syndrome
|
|
Marcus-Gunn Phenomenon
|
|
|
| Adult Type Testicular Granulosa Cell Tumor |
|
|
| Congenital Symblepharon |
|
|
| Testicular Fibroma |
|
|
| Sex Cord-Gonadal Stromal Tumor |
|
Sex Cord-Gonadal Stromal Tumour
|
Sex Cord Stromal Tumour
|
|
Sex Cord-Stromal Neoplasm
|
Specialized Gonadal Neoplasm
|
|
Specialized Gonadal Tumor
|
Specialized Gonadal Tumour
|
|
Sex Cord-Gonadal Stromal Tumors
|
Sex Cord-Stromal Tumor
|
|
Malignant Testicular Sex Cord-Stromal Tumor
|
Sex Cord Stromal Tumor Of Testis
|
|
|
| Luteoma |
|
Leuteoma Of Pregnancy
|
Luteoma Of Pregnancy
|
|
|
| 46 Xx Gonadal Dysgenesis |
|
Ovarian Dysgenesis
|
Gonadal Dysgenesis, 46,Xx
|
|
Dysgenesis, Ovarian
|
|
|
| Premature Menopause |
|
Primary Ovarian Insufficiency
|
Premature Ovarian Failure
|
|
Hypergonadotropic Hypogonadism
|
Premature Ovarian Insufficiency
|
|
Menopause - Premature
|
Menopause Praecox
|
|
Menopause Premature
|
Menopause, Premature
|
|
Female Hypergonadotropic Hypogonadism
|
Hypergonadotrophic Ovarian Failure
|
|
Primary Female Hypogonadism
|
Pof - [Premature Ovarian Failure]
|
|
Ovarian Failure
|
Ovarian Secretion Suppression
|
|
Ovary Hyposecretion
|
Ovary Secretion Deficiency
|
|
Premature Menopause Nos
|
|
|
| Kidney Cortex Disease |
|
|
| 46,Xy Sex Reversal 2 |
|
Dosage-Sensitive Sex Reversal
|
Dss
|
|
SRXY2
|
46,Xy Sex Reversal, Dax1-Related
|
|
46xy Sex Reversal 2, Dosage-Sensitive
|
46,Xy Sex Reversal Dax1-Related
|
|
|
| 46,Xx Sex Reversal |
|
46,Xx Testicular Disorder Of Sex Development
|
46,Xx Testicular Dsd
|
|
De La Chapelle Syndrome
|
Srxx
|
|
Xx, Male Syndrome
|
46, Xx Testicular Disorders Of Sex Development
|
|
|
| Estrogen Excess |
|
|
| Congenital Ptosis |
|
Congenital Blepharoptosis
|
Congenital Eyelid Ptosis
|
|
|
| Hand-Foot-Genital Syndrome |
|
Hand-Foot-Uterus Syndrome
|
Hfgs
|
|
Hfg Syndrome
|
Hfu Syndrome
|
|
HFG
|
Hfu
|
|
Hand Foot Uterus Syndrome
|
Hand Foot Genital Syndrome
|
|
|
| Mixed Germ Cell-Sex Cord Neoplasm |
|
Mixed Germ Cell-Sex Cord-Stromal Tumor
|
Mixed Germ Cell-Sex Cord Tumor
|
|
|
| Dicer1 Syndrome |
|
Pleuro-Pulmonary Blastoma Familial Tumor Susceptibility Syndrome
|
Pleuropulmonary Blastoma Familial Tumor Susceptibility Syndrome
|
|
Ppb Familial Tumor Susceptibility Syndrome
|
Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome
|
|
Pleuro-Pulmonary Blastoma Familial Tumor Susceptibility
|
Dicer1-Related Pleuropulmonary Blastoma
|
|
Pleuropulmonary Blastoma Familial Tumor And Dysplasia Syndrome
|
Pleuropulmonary Blastoma Family Tumor Susceptibility Syndrome
|
|
Ppbftds
|
Doid:0081063
|
|
|
| Infertility |
|
|
| Mullerian Aplasia And Hyperandrogenism |
|
Mullerian Duct Failure And Hyperandrogenism
|
Wnt4 Deficiency
|
|
Müllerian Aplasia And Hyperandrogenism
|
Biason-Lauber Syndrome
|
|
Mayer-Rokitansky-Küster-Hauser-Biason-Lauber Syndrome
|
Mayer-Rokitansky-Küster-Hauser-Like Syndrome
|
|
Müllerian Duct Failure
|
Wnt4 Müllerian Aplasia
|
|
Wnt4 Müllerian Aplasia And Ovarian Dysfunction
|
MULLAPL
|
|
Wnt4 Mullerian Aplasia And Ovarian Dysfunction
|
|
|
| 46,Xy Sex Reversal |
|
Swyer Syndrome
|
Pure Gonadal Dysgenesis 46,Xy
|
|
Gonadal Dysgenesis, Xy Female Type
|
Gonadal Dysgenesis, 46,Xy
|
|
46,Xy Cgd
|
46,Xy Complete Gonadal Dysgenesis
|
|
46,Xy Pure Gonadal Dysgenesis
|
46 Xy Gonadal Dysgenesis
|
|
46, Xy Cgd
|
46, Xy Complete Gonadal Dysgenesis
|
|
46, Xy Pure Gonadal Dysgenesis
|
Xy Pure Gonadal Dysgenesis
|
|
Female With 46,Xy Karyotype
|
Xy Females
|
|
|
| Persistent Mullerian Duct Syndrome |
|
Persistent Müllerian Duct Syndrome
|
Pmds
|
|
Persistent Oviduct Syndrome
|
Persistent Muellerian Duct Syndrome
|
|
Female Genital Ducts In Otherwise Normal Male
|
Hernia Uteri Inguinale
|
|
Persistent Mullerian Duct Syndrome, Types 1 And 2
|
Persistent Mullerian Derivatives
|
|
|
| Pleuropulmonary Blastoma |
|
PPB
|
Ppb Familial Tumor And Dysplasia Syndrome
|
|
Ppbftds
|
Pulmonary Blastoma
|
|
Blastoma, Pleuropulmonary
|
Dicer1 Syndrome
|
|
Respiratory Tract Neoplasms
|
|
|
| Synpolydactyly |
|
Syndactyly Type 2
|
Syndactyly, Type 2
|
|
Spd
|
|
|
| Ovarian Benign Neoplasm |
|
|
| Amblyopia |
|
|
| Multiple Synostoses Syndrome |
|
Symphalangism-Brachydactyly Syndrome
|
Deafness-Hermann Type Symphalangism Syndrome
|
|
Facio-Audio-Symphalangism
|
Hearing Loss-Hermann Type Symphalangism Syndrome
|
|
Wl Syndrome
|
Multiple Synostosis 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
|
|
|
| Pseudohermaphroditism |
|
Indeterminate Sex And Pseudohermaphroditism
|
|
|
| Perrault Syndrome |
|
Gonadal Dysgenesis, Xx Type, With Deafness
|
Ovarian Dysgenesis With Sensorineural Deafness
|
|
Gonadal Dysgenesis, Xx Type
|
Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance
|
|
Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance
|
Xx Gonodal Dysgenesis-Deafness Syndrome
|
|
Xx Gonodal Dysgenesis-Hearing Loss Syndrome
|
Gonadal Dysgenesis Xx Type Deafness
|
|
|
| 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
|
|
|
| Microcephaly |
|
Microencephaly
|
Microcephalus
|
|
Microcephalic
|
Nanocephaly
|
|
Congenital Microcephaly
|
Brain Hypoplasia
|
|
Brain Nondevelopment
|
Cephalic Hypoplasia
|
|
Undeveloped Cerebrum
|
Undeveloped Brain
|
|
Micrencephalon
|
Micrencephaly
|
|
|
| Fanconi Anemia, Complementation Group A |
|
Fanconi Anemia
|
Fanconi Pancytopenia
|
|
Fanconi Anemia Complementation Group A
|
FANCA
|
|
Fa
|
Fanconi Panmyelopathy
|
|
Fanconi'S Anemia
|
Fanconi Anaemia
|
|
Fanconi'S Anaemia
|
Fanconi Hypoplastic Anemia
|
|
Estren-Dameshek Variant Of Fanconi Anemia
|
Estren-Dameshek Variant Of Fanconi Pancytopenia
|
|
Fanconi Anemia Estren-Dameshek Variant
|
Fanconis Anemia
|
|
|
| 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
|
|
|
