| Diseases |
Alias |
|
| Leiomyoma, Uterine |
|
Uterine Leiomyoma
|
Uterine Fibroids
|
|
Uterine Fibroid
|
Plexiform Leiomyoma
|
|
UL
|
Leiomyoma Of Corpus Uteri
|
|
Uterus Fibroma
|
|
|
| Septooptic Dysplasia |
|
Septo-Optic Dysplasia
|
De Morsier Syndrome
|
|
Growth Hormone Deficiency With Pituitary Anomalies
|
SOD
|
|
Pituitary Hormone Deficiency, Combined, 5
|
Septo-Optic Dysplasia Spectrum
|
|
Septo-Optic Dysplasia With Growth Hormone Deficiency
|
Pituitary Hormone Deficiency, Combined 5
|
|
Hypopituitarism And Septooptic 'Dysplasia'
|
GHDPA
|
|
CPHD5
|
Dysplasia, Septo-Optic
|
|
Kallmann Syndrome
|
|
|
| Retinitis Pigmentosa |
|
RP
|
Rod-Cone Dystrophy
|
|
Autosomal Recessive Retinitis Pigmentosa
|
Non-Syndromic Retinitis Pigmentosa
|
|
Pericentral Pigmentary Retinopathy
|
Pigmentary Retinopathy
|
|
Tapetoretinal Degeneration
|
Rcd
|
|
Retinitis Pigmentosa Autosomal Recessive
|
ARRP
|
|
Retinitis Pigmentosa, Autosomal Recessive
|
Retinitis Pigmentosa 1
|
|
|
| Non-Syndromic X-Linked Intellectual Disability 96 |
|
Mrx96
|
X-Linked Mental Retardation 96
|
|
|
| Hypogonadism |
|
|
| Gordon Holmes Syndrome |
|
Cerebellar Ataxia And Hypogonadotropic Hypogonadism
|
Lhrh Deficiency And Ataxia
|
|
Cerebellar Ataxia-Hypogonadism Syndrome
|
GDHS
|
|
Cahh
|
Luteinizing Hormone-Releasing Hormone Deficiency With Ataxia
|
|
Gordon-Holmes Syndrome
|
Deficiency Of Luteinizing Hormone-Releasing Hormone With Ataxia
|
|
Luteinizing Hormone-Releasing Hormone, Deficiency Of, With Ataxia
|
Cerebellar Ataxia - Hypogonadism
|
|
Luteinizing Hormone Releasing Hormone, Deficiency Of With Ataxia
|
Ataxia, Cerebellar, And Hypogonadotropic Hypogonadism
|
|
|
| Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Idiopathic Hypogonadotropic Hypogonadism
|
HH7
|
|
Hypogonadism, Isolated Hypogonadotropic
|
Ihh
|
|
Hypogonadism, Isolated, Hypogonadotropic
|
Hypogonadotropic Hypogonadism
|
|
Isolated Hypogonadotropic Hypogonadism
|
Hypogonadotropic Hypogonadism 7 Without Anosmia
|
|
Congenital Hypogonadotropic Hypogonadism Normosmic
|
Hh
|
|
Klinefelter Syndrome
|
Isolated Gonadotropin Deficiency
|
|
|
| Isolated Congenital Hypogonadotropic Hypogonadism |
|
Gonadotropic Deficiency
|
Isolated Congenital Gonadotropin Deficiency
|
|
Isolated Gonadotropin-Releasing Hormone Deficiency
|
|
|
| Coloboma Of Macula |
|
Coloboma
|
Congenital Ocular Coloboma
|
|
Microphthalmia, Isolated, With Coloboma
|
Agenesis Of Macula
|
|
Hereditary Macular Coloboma
|
Ocular Coloboma
|
|
Coloboma Of Eye
|
Macular Coloboma
|
|
Uveoretinal Coloboma
|
|
|
| Myoma |
|
Muscle Benign Neoplasm
|
Myomatous Neoplasm
|
|
Neoplasms, Muscle Tissue
|
Benign Neoplasm Of The Muscle
|
|
Muscle Neoplasm
|
Muscle Tissue Neoplasm
|
|
Myomatous Tumor
|
Neoplasm Of Muscle
|
|
Muscle Neoplasms
|
Myomas
|
|
|
| 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
|
|
|
| Sensorineural Hearing Loss |
|
Sensory Hearing Loss
|
Sensorineural Hearing Loss Disorder
|
|
Hearing Loss, Sensorineural
|
Central Hearing Loss
|
|
High Frequency Deafness
|
High Frequency Hearing Loss
|
|
High-Frequency Hearing Loss
|
Perceptive Deafness
|
|
Perceptive Hearing Loss
|
Perceptive Hearing Loss Or Deafness
|
|
Sensorineural Deafness
|
Hearing Loss Sensorineural
|
|
Deafness Sensorineural
|
Hearing Loss High-Frequency
|
|
Hearing Loss, Central
|
Hearing Loss, High-Frequency
|
|
|
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Blepharophimosis, Ptosis, And Epicanthus Inversus Syndrome
|
BPES
|
|
Blepharophimosis Syndrome
|
Blepharophimosis, Epicanthus Inversus, And Ptosis, Type 1
|
|
Bpes With Duane Retraction Syndrome
|
Blepharophimosis, Ptosis, And Epicanthus Inversus Syndrome Type 1
|
|
Blepharophimosis, Ptosis, And Epicanthus Inversus Syndrome Type 2
|
Blepharophimosis, Epicanthus Inversus, And Ptosis, Type 2
|
|
Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome
|
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
|
|
|
| Central Precocious Puberty |
|
Cpp
|
Gonadotropin-Dependant Precocious Puberty
|
|
Gonadotropin-Dependent Precocious Puberty
|
Precocious Puberty, Central
|
|
|
| Amenorrhea |
|
Absence Of Menstruation
|
Amenia
|
|
|
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Fertile Eunuch Syndrome
|
Pasqualini Syndrome
|
|
HH23
|
46,Xy Disorder Of Sex Development Due To Lhb Deficiency
|
|
46,Xy Disorder Of Sex Development Due To Luteinizing Hormone Subunit Beta Deficiency
|
46,Xy Dsd Due To Lhb Deficiency
|
|
46,Xy Dsd Due To Luteinizing Hormone Subunit Beta Deficiency
|
Leydig Cell Hypoplasia Due To Lhb Deficiency
|
|
Leydig Cell Hypoplasia Due To Luteinizing Hormone Subunit Beta Deficiency
|
Eunuchoidism With Spermatogenesis, Normal Fsh And Low Or Normal Interstitial Cell-Stimulating Hormone
|
|
Hypogonadism, Hypogonadotropic, Type 23, With/Without Anosmia
|
|
|
| Conn'S Syndrome |
|
Cushing Syndrome
|
Hyperaldosteronism
|
|
Primary Hyperaldosteronism
|
Hypercortisolism
|
|
Primary Aldosteronism
|
Cushing'S Syndrome
|
|
Adrenal Gland Hyperfunction
|
Conn Syndrome
|
|
Hyperadrenalism
|
Ectopic Acth Syndrome
|
|
Hyperadrenocorticism
|
Cushing Disease
|
|
Adrenal Cortex Adenoma
|
Corticotroph Pituitary Adenoma
|
|
Cushing'S Disease
|
Pituitary Corticotroph Micro-Adenoma
|
|
Pituitary-Dependent Cushing Syndrome
|
Pituitary Acth Hypersecretion
|
|
Acth Syndrome, Ectopic
|
Acth-Secreting Pituitary Adenoma
|
|
Adrenal Hyperfunction Resulting From Pituitary Acth Excess
|
Ectopic Adrenocorticotropic Hormone Syndrome
|
|
Nodular Primary Adrenocortical Dysplasia
|
Pituitary Dependent Cushing Syndrome
|
|
Pituitary Cushing Syndrome
|
Pituitary-Dependant Cushing Syndrome
|
|
Pituitary-Dependant Hypercortisolism
|
Pituitary-Dependant Hypercortisolism Disorder
|
|
Aldosteronism Primary
|
Acth Syndrome Ectopic
|
|
Adrenal Cushing'S Syndrome
|
Adrenal Cortical Adenoma
|
|
Cushing Syndrome Nos
|
Cortisol Hypersecretion
|
|
Corticoadrenal Hypersecretion
|
Cushing Syndrome Secondary To Ectopic Acth-Secretion
|
|
Ectopic Cushing Syndrome
|
Hypercortisolism Due To Nonpituitary Tumour
|
|
Ectopic Acth - [Adrenocorticotropic Hormone] Secretion
|
Ectopic Acth - [Adrenocorticotropic Hormone] Secretion Causing Cushing Syndrome
|
|
Idiopathic Aldosteronism
|
Aldosteronism
|
|
Primary Aldosteronism Due To Bilateral Adrenal Hyperplasia
|
Primary Aldosteronism Due To Adrenal Hyperplasia
|
|
|
| Spermatogenic Failure |
|
Azoospermia
|
Spgf
|
|
Spermatogenic Failure, Susceptibility To
|
Absent Sperm
|
|
Aspermatogenesis
|
Infertility Due To Azoospermia
|
|
Hypospermatogenesis
|
Azoospermatism
|
|
|
| Leydig Cell Hypoplasia |
|
46,Xy Disorder Of Sex Development Due To Lh Resistance Or Lhb Deficiency
|
46,Xy Disorder Of Sex Development Due To Luteinizing Hormone Resistance Or Luteinizing Hormone Beta Subunit Deficiency
|
|
46,Xy Dsd Due To Lh Resistance Or Lhb Deficiency
|
46,Xy Dsd Due To Luteinizing Hormone Resistance Or Luteinizing Hormone Beta Subunit Deficiency
|
|
46,Xy Disorder Of Sex Development Due To Lh Defects
|
Lh Resistance Due To Lh Receptor Deactivation
|
|
Leydig Cell Agenesis
|
Male Hypergonadotropic Hypogonadism Due To Lhcgr Defect
|
|
Male Pseudohermaphroditism Due To Lh Resistance Or Lhb Deficiency
|
Male Pseudohermaphroditism Due To Luteinizing Hormone Resistance Or Luteinizing Hormone Beta Subunit Deficiency
|
|
Lch
|
Hypoplasia, Leydig Cell
|
|
|
| X-Linked Nephrogenic Diabetes Insipidus |
|
Nephrogenic Diabetes Insipidus Type 1
|
Doid:0081060
|
|
|
| Endometriosis |
|
Endometriosis, Site Unspecified
|
Endometrial Ectopia
|
|
|
| Cleft Palate, Isolated |
|
Cleft Palate
|
Isolated Cleft Palate
|
|
CPI
|
Cp
|
|
Palatoschisis
|
Cleft Palate Isolated
|
|
Uranostaphyloschisis
|
Congenital Fissure Of Palate
|
|
Cleft Of Secondary Palate
|
|
|
| Disorder Of Sexual Development |
|
Disorder Of Sex Development
|
Sex Development Disorder
|
|
Sex Differentiation Disease
|
Dsd
|
|
Disorders Of Sex Development
|
Sex Differentiation Disorders
|
|
|
| Charge Syndrome |
|
Charge Association
|
Hall-Hittner Syndrome
|
|
Charge Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital And Ear Anomalies
|
Hhs
|
|
Coloboma, Heart Anomaly, Choanal Atresia, Restriction Of Growth And Development, Genital And Ear Anomalies
|
Coloboma-Heart Defects-Atresia Choanae-Retardation Of Growth And Development-Genitourinary Problems-Ear Abnormalities Syndrome
|
|
CHARGES
|
|
|
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Normosmic Idiopathic Hypogonadotropic Hypogonadism
|
Nihh
|
|
|
| Precocious Puberty, Male-Limited |
|
Testotoxicosis
|
Familial Male-Limited Precocious Puberty
|
|
Leydig Cell Adenoma, Somatic, With Precocious Puberty
|
FMPP
|
|
Familial Testotoxicosis
|
Sexual Precocity, Familial, Gonadotropin-Independent
|
|
Familial Gonadotropin-Independent Male-Limited Sexual Precocity
|
Male-Limited Precocious Puberty
|
|
Pubertas Praecox
|
Gonadotropin-Independent Familial Sexual Precocity
|
|
Testotoxicosis, Familial
|
Precocious Puberty, Male
|
|
Precocious Puberty, Male Limited
|
Familial Gonadotrophin-Independent Sexual Precocity
|
|
Gipp
|
Gonadotrophin-Independent Precocious Puberty
|
|
Precocious Pseudopuberty
|
Familial Male Precocious Puberty
|
|
Precocious Puberty In Males
|
Puberty, Precocious
|
|
Precocious Puberty
|
|
|
| 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
|
|
|
| Nephrogenic Diabetes Insipidus |
|
Vasopressin-Resistant Diabetes Insipidus
|
Diabetes Insipidus, Nephrogenic
|
|
Diabetes Insipidus Nephrogenic
|
Congenital Nephrogenic Diabetes Insipidus
|
|
Adh Resistant Diabetes Insipidus
|
Diabetes Insipidus Nephrogenic X-Linked
|
|
Diabetes Insipidus Nephrogenic Type 1
|
Adh-Resistant Diabetes Insipidus
|
|
Diabetes Insipidus Renalis
|
Ndi
|
|
Renal Diabetes Insipidus
|
Familial Nephrogenic Diabetes
|
|
Antidiuretic-Hormone-Resistant Diabetes Insipidus
|
Adiuretin-Resistant Diabetes Insipidus
|
|
Ndi - [Nephrogenic Diabetes Insipidus]
|
Diabetes Tenuifluus
|
|
Adh - [Antidiuretic-Hormone] Resistant Diabetes Insipidus
|
Hereditary Nephrogenic Diabetes Insipidus
|
|
Familial Nephrogenic Diabetes Insipidus
|
Primary Nephrogenic Diabetes Insipidus
|
|
|
| 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
|
|
|
| Prostate Cancer |
|
Prostate Carcinoma
|
Prostate Cancer, Familial
|
|
Prostate Neoplasm
|
Prostate Cancer, Somatic
|
|
Prostate Cancer, Susceptibility To
|
Prostatic Cancer
|
|
Prostatic Neoplasms
|
Hereditary Prostate Cancer
|
|
Prostatic Neoplasm
|
Cancer Of Prostate
|
|
Carcinoma Of Prostate
|
Familial Prostate Cancer
|
|
Familial Prostate Carcinoma
|
Malignant Tumor Of Prostate
|
|
Malignant Neoplasm Of Prostate
|
Prostate Cancer, Familial, Susceptibility To
|
|
Malignant Tumor Of The Prostate
|
Ngp - New Growth Of Prostate
|
|
Tumor Of The Prostate
|
Prostate Cancer, Hereditary
|
|
Cancer Of The Prostate
|
Malignant Neoplasm Of The Prostate
|
|
Prostatic Carcinoma
|
PC
|
|
Prca
|
Cancer, Prostate
|
|
Malignant Prostatic Tumour
|
Malignant Tumour Of Prostate
|
|
Primary Prostate Cancer
|
Primary Malignant Neoplasm Of Prostate
|
|
Prostate Gland Cancer
|
|
|
| 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
|
|
|
| Ovarian Cancer |
|
Ovarian Carcinoma
|
Ovarian Neoplasm
|
|
Malignant Tumour Of Ovary
|
Epithelial Ovarian Cancer
|
|
Neoplasm Of Ovary
|
Ovarian Neoplasms
|
|
Ovarian Cancers
|
Malignant Neoplasm Of Ovary
|
|
Primary Malignant Neoplasm Of Ovary
|
Ovarian Cancer, Somatic
|
|
Malignant Ovarian Tumor
|
Ovary Neoplasm
|
|
Primary Ovarian Cancer
|
Tumor Of The Ovary
|
|
Cancer Of The Ovary
|
Malignant Neoplasm Of The Ovary
|
|
Malignant Tumor Of The Ovary
|
Ovarian Malignant Tumor
|
|
OC
|
Ovarian Carcinomas
|
|
Cancer, Ovarian
|
Cancer Of Ovary
|
|
Ovary Cancer
|
Ca Ovary
|
|
|
| Oligospermia |
|
|
| Renal Hypodysplasia/Aplasia 1 |
|
Renal Agenesis
|
Renal Adysplasia
|
|
Renal Aplasia
|
RHDA1
|
|
Hereditary Renal Aplasia
|
Hra
|
|
Hereditary Urogenital Adysplasia
|
Hypodysplasia/Aplasia, Renal, Type 1
|
|
Congenital Absence Of Kidneys Syndrome
|
Congenital Absence Of Kidney
|
|
Aplastic Kidney
|
|
|
| Infertility |
|
|
| Endometrial Cancer |
|
Endometrial Carcinoma
|
Endometrial Neoplasm
|
|
Malignant Neoplasm Of Endometrium
|
Endometrioid Carcinoma
|
|
Endometrial Neoplasms
|
Carcinoma, Endometrioid
|
|
Endometrial Cancer, Familial
|
Endometrial Carcinoma, Somatic
|
|
Endometrial Cancer, Susceptibility To
|
Endometrial Ca
|
|
Malignant Endometrial Neoplasm
|
Neoplasm Of Endometrium
|
|
Primary Malignant Neoplasm Of Endometrium
|
Tumor Of Endometrium
|
|
Carcinoma Of The Endometrium
|
Endometrioid Carcinoma Of Female Reproductive System
|
|
ENDMC
|
Carcinoma Endometrioid
|
|
Endometrial Cancers
|
Cancer, Endometrial
|
|
Uterine Corpus Cancer
|
|
|
| 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
|
|
|
| Pseudohermaphroditism |
|
Indeterminate Sex And Pseudohermaphroditism
|
|
|
| Choanal Atresia, Posterior |
|
Choanal Atresia
|
Atresia Of Nares
|
|
Posterior Choanal Atresia
|
PCA
|
|
Imperforate Nares
|
Choanal Fusion
|
|
Congenital Stenosis Of Nares
|
Congenital Stenosis Of Choanae
|
|
Nasal Atresia Nos
|
|
|
| Glucocorticoid Deficiency 1 |
|
Acth Resistance
|
Glucocorticoid Deficiency, Due To Acth Unresponsiveness
|
|
GCCD1
|
Familial Glucocorticoid Deficiency 1
|
|
Fgd1
|
Adrenal Unresponsiveness To Acth
|
|
Hereditary Unresponsiveness To Adrenocorticotropic Hormone
|
Isolated Glucocorticoid Deficiency
|
|
|
