| Diseases |
Alias |
|
| Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism |
|
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
|
Intellectual Developmental Disorder, X-Linked, With Isolated Growth Hormone Deficiency
|
|
Mrgh
|
Mental Retardation, X-Linked, With Panhypopituitarism
|
|
MRXGH
|
Mental Retardation, X-Linked, With Isolated Growth Hormone Deficiency
|
|
|
| Panhypopituitarism, X-Linked |
|
PHPX
|
X-Linked Panhypopituitarism
|
|
Pituitary Dwarfism Iv
|
Panhypopituitarism X-Linked
|
|
Pituitary Dwarfism Iv, Formerly
|
Panhypopituitarism - X-Linked
|
|
|
| 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
|
|
|
| Hypertrichosis Universalis Congenita, Ambras Type |
|
Ambras Syndrome
|
Hypertrichosis, Congenital Generalized
|
|
HTC1
|
HTC2
|
|
Chromosome Xq27.1 Interchromosomal Insertion Syndrome
|
Cgh
|
|
Hcg
|
Ambras Type Hypertrichosis Universalis Congenita
|
|
X-Linked Congenital Generalized Hypertrichosis
|
Congenital Generalized Hypertrichosis, Macias-Flores Type
|
|
Macias Flores-Garcia Cruz-Rivera Syndrome
|
Htc 1
|
|
Hypertrichosis Universalis Congenita Ambras Type
|
Hypertrichosis Congenital Generalized X-Linked
|
|
Macias-Flores Garcia-Cruz Rivera Syndrome
|
Congenital Generalized Hypertrichosis, Ambras Type
|
|
|
| Non-Acquired Panhypopituitarism |
|
Genetic Panhypopituitarism
|
|
|
| 46,Xx Sex Reversal 1 |
|
46,Xx Testicular Disorder Of Sex Development
|
46,Xx Gonadal Dysgenesis
|
|
SRXX1
|
46,Xx Gonadal Dysgenesis, Complete, Sry-Positive
|
|
46,Xx Testicular Dsd
|
Xx Male Syndrome
|
|
46,Xx Complete Gonadal Dysgenesis
|
46,Xx Pure Gonadal Dysgenesis
|
|
Follicular Stimulating Hormone-Resistant Ovaries
|
Hypergonadotropic Ovarian Dysgenesis
|
|
Ovotesticular Disorder Of Sex Development
|
46,Xx Sex Reversal, Sry-Positive
|
|
Xx Male, Sry-Positive
|
46xx Sex Reversal 1
|
|
46, Xx Gonadal Sex Reversal
|
Xx Sex Reversal
|
|
46,Xx Ovarian Dysgenesis
|
Fsh-Ro
|
|
Xx Female Gonadal Dysgenesis
|
Xx-Gd
|
|
46,Xx Ovotesticular Disorder Of Sex Development
|
46,Xx Ovotesticular Dsd
|
|
De La Chapelle Syndrome
|
Xx, Male Syndrome
|
|
46,Xx Gonadal Dysgenesis Complete Sry-Positive
|
46,Xx Sex Reversal Sry-Positive
|
|
46,Xx True Hermaphroditism Sry-Positive
|
Ovotesticular Dsd
|
|
Xx Male Sry-Positive
|
Ovotesticular Disorders Of Sex Development
|
|
46, Xx Testicular Disorders Of Sex Development
|
Resistant Ovary Syndrome
|
|
Dysgenetic Ovaries
|
Fsh-Ro - [Follicular Stimulating Hormone-Resistant Ovaries]
|
|
True Hermaphroditism
|
Ovotestis
|
|
True Hermaphrodite
|
|
|
| 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
|
|
|
| Growth Hormone Deficiency |
|
Somatotropin Deficiency
|
Isolated Somatotropin Deficiency
|
|
|
| Hypopituitarism |
|
Pituitary Hypofunction
|
Pituitary Insufficiency
|
|
Pituitary Hormone Deficiency
|
Subpituitarism
|
|
Hypophyseal Dystrophy
|
Hypohypophysism
|
|
Anterior Pituitary Insufficiency
|
Deficient Secretion Of One Or More Pituitary Hormones
|
|
Hypopituitarism Syndrome
|
Pituitary Deficiency
|
|
Pituitary Failure
|
Pituitary Insufficiency Nos
|
|
Anterior Pituitary Hypofunction
|
Deficient Secretion Of All Pituitary Hormones
|
|
Hypopituitary Dwarfism
|
Hyposomatotropic Dwarfism
|
|
Hypophyseal Dwarfism
|
Hypopituitary Cachexia
|
|
Hypophyseal Short Stature
|
Panhypopituitarism Syndrome
|
|
Pituitary Cachexia
|
Juvenile Hypopituitarism
|
|
Pituitary Dwarfism
|
Pituitary Gland Hypofunction
|
|
Primary Hypopituitarism
|
Secondary Hypogonadism
|
|
Prepubertal Panhypopituitarism
|
Prepubertal Dwarfism
|
|
Postpartum Panhypopituitary Syndrome
|
Postpartum Hypopituitarism
|
|
Pituitary Short Stature
|
Pituitary Infantilism
|
|
Pituitary Hypogonadism
|
Pituitary Hypoadrenocorticism
|
|
|
| Pituitary Hypoplasia |
|
Hypoplasia Of The Pituitary Gland
|
|
|
| Hypoparathyroidism, X-Linked |
|
HYPX
|
X-Linked Hypoparathyroidism
|
|
Parathyroid Glands, Agenesis Of
|
Agenesis Of Parathyroid Glands
|
|
Hypoparathyroidism X-Linked
|
Hypoparathyroidism - X-Linked
|
|
|
| 46,Xx Sex Reversal 3 |
|
SRXX3
|
Chromosome Xq26 Duplication Syndrome
|
|
46,Xx Sex Reversal, Sox3-Related
|
46xx Sex Reversal 3
|
|
46,Xx Male Sex Reversal Sox3-Related
|
|
|
| Hypoparathyroidism |
|
Hypoparathyroidism, Idiopathic
|
Parathyroid, Underactivity Of
|
|
Syndrome With Hypoparathyroidism
|
Deficiency Of Parathyroid Hormone
|
|
Parathyroid Gland Insufficiency
|
Parathyroid Insufficiency
|
|
Hypoparathyroidism Due To Impaired Pth - [Parathyroid Hormone] Secretion
|
|
|
| Complex Chromosomal Rearrangement |
|
|
| Isolated Growth Hormone Deficiency |
|
Congenital Ighd
|
Congenital Isolated Gh Deficiency
|
|
Congenital Isolated Growth Hormone Deficiency
|
Non-Acquired Isolated Growth Hormone Deficiency
|
|
Pituitary Dwarfism
|
Dwarfism, Pituitary
|
|
Isolated Somatotropin Deficiency
|
Isolated Congenital Growth Hormone Deficiency
|
|
Familial Isolated Growth Hormone Deficiency
|
Ighd
|
|
Dwarfism, Growth Hormone Deficiency
|
Growth Hormone Deficiency Dwarfism
|
|
Isolated Gh Deficiency
|
Isolated Hgh Deficiency
|
|
Isolated Human Growth Hormone Deficiency
|
Isolated Somatotropin Deficiency Disorder
|
|
Dwarfism Pituitary
|
|
|
| Isolated Growth Hormone Deficiency Type Iii |
|
Congenital Ighd Type Iii
|
Congenital Isolated Gh Deficiency Type Iii
|
|
Congenital Isolated Growth Hormone Deficiency Type Iii
|
Fleisher Syndrome
|
|
Growth Hormone Deficiency With Hypogammaglobulinemia
|
Ighd Iii
|
|
X-Linked Ighd
|
X-Linked Isolated Growth Hormone Deficiency
|
|
Isolated Growth Hormone Deficiency Type 3
|
X-Linked Agammaglobulinemia And Isolated Growth Hormone Deficiency
|
|
X-Linked Hypogammaglobulinemia And Isolated Growth Hormone Deficiency
|
Agammaglobulinemia And Isolated Growth Hormone Deficiency, X-Linked
|
|
Hypogammaglobulinemia And Isolated Growth Hormone Deficiency, X-Linked
|
Ighd3
|
|
Growth Hormone Deficiency, Isolated, Type Iii )
|
|
|
| Lambert-Eaton Myasthenic Syndrome |
|
Lambert-Eaton Syndrome
|
Eaton-Lambert Syndrome
|
|
Lems
|
Lambert Eaton Myasthenic Syndrome
|
|
Eaton Lambert Syndrome
|
Lambert Eaton Syndrome
|
|
Myasthenic Syndrome Of Lambert-Eaton
|
Myasthenic-Myopathic Syndrome Of Lambert-Eaton
|
|
Lems - [Lambert-Eaton Myasthenic Syndrome]
|
|
|
| Gonadal Dysgenesis |
|
Gonadal Dysgenesis Syndrome
|
Turner Syndrome
|
|
|
| Aniseikonia |
|
|
| Neural Tube Defects |
|
Spina Bifida
|
Neural Tube Defect
|
|
NTD
|
Neural Tube Defects, Susceptibility To
|
|
Spinal Dysraphism
|
Spina Bifida, Susceptibility To
|
|
Rachischisis
|
Cleft Spine
|
|
Open Spine
|
Hydrocele Spinalis
|
|
Neural Tube Defect Nos
|
Sb - [Spina Bifida]
|
|
Spinal Hernia Nos
|
Spinal Fissure Nos
|
|
|
| Hypertrichosis |
|
|
| Hyperphosphatemia |
|
|
| Pituitary Hormone Deficiency, Combined, 2 |
|
Panhypopituitarism
|
Combined Pituitary Hormone Deficiency
|
|
CPHD2
|
Ateliotic Dwarfism With Hypogonadism
|
|
Pituitary Dwarfism Iii
|
Hanhart Dwarfism
|
|
Simmond'S Disease
|
Simmonds' Disease
|
|
Cphd
|
Pituitary Hormone Deficiency, Combined
|
|
Hormone Deficiency, Pituitary, Combined, Type 2
|
Pituitary Dwarfism Type 3
|
|
Sheehan Syndrome
|
|
|
| Spastic Paraplegia 52, Autosomal Recessive |
|
SPG52
|
Hereditary Spastic Paraplegia 52
|
|
Cpsq6
|
Cerebral Palsy, Spastic Quadriplegic, 6, Formerly
|
|
Cpsq6, Formerly
|
Autosomal Recessive Spastic Paraplegia 52
|
|
Spastic Quadriplegic Cerebral Palsy 6
|
Cerebral Palsy, Spastic Quadriplegic 6
|
|
|
| Partington Syndrome |
|
X-Linked Reticulate Pigmentary Disorder
|
PRTS
|
|
Partington X-Linked Mental Retardation Syndrome
|
Mrxs1
|
|
Mrx36
|
Intellectual Developmental Disorder, X-Linked, Syndromic 1
|
|
Partington Disease
|
Pdr
|
|
Partington-Mulley Syndrome
|
Russell-Silver Syndrome, X-Linked
|
|
Mental Retardation, X-Linked, Syndromic 1
|
Mental Retardation, X-Linked, With Dystonic Movements, Ataxia, And Seizures
|
|
Mental Retardation, X-Linked 36
|
X-Linked Reticulate Pigmentary Disorder With Systemic Manifestations
|
|
X-Linked Russell-Silver Syndrome
|
Intelectual Disability-Dystonic Movements-Ataxia-Seizures Syndrome
|
|
Intellectual Disability, X-Linked, Syndromic 1
|
Intellectual Disability, X-Linked, With Dystonic Movements, Ataxia, And Seizures
|
|
Partington X-Linked Intellectual Disability Syndrome
|
X-Linked Intellectual Deficit-Dystonia-Dysarthria
|
|
X-Linked Mental Retardation With Dystonic Movements, Ataxia, And Seizures
|
Familial Cutaneous Amyloidosis
|
|
X-Linked Cutaneous Amyloidosis
|
Xlpdr
|
|
X-Linked Intellectual Disability-Dystonia-Dysarthria Syndrome
|
Pigmentary Disorder, Reticulate, With Systemic Manifestations
|
|
|
| Tracheal Cancer |
|
Tracheal Carcinoma
|
Malignant Neoplasm Of Trachea
|
|
Tracheal Neoplasms
|
Pancoast Tumor
|
|
Pulmonary Sulcus Neoplasm
|
Pancoast Syndrome
|
|
|
| Hermaphroditism |
|
|
| 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
|
|
|
| Isolated Growth Hormone Deficiency, Type Ii |
|
Ighd Ii
|
Isolated Growth Hormone Deficiency Type Ii
|
|
IGHD2
|
Growth Hormone Deficiency, Isolated, Type Ii
|
|
Congenital Ighd Type Ii
|
Congenital Isolated Gh Deficiency Type Ii
|
|
Congenital Isolated Growth Hormone Deficiency Type Ii
|
Pituitary Dwarfism Due To Isolated Growth Hormone Deficiency Autosomal Dominant
|
|
Growth Hormone Deficiency, Isolated, Autosomal Dominant
|
Pituitary Dwarfism Due To Isolated Growth Hormone Deficiency, Autosomal Dominant
|
|
Autosomal Dominant Isolated Growth Hormone Deficiency
|
Autosomal Dominant Pituitary Dwarfism Due To Isolated Growth Hormone Deficiency
|
|
Isolated Growth Hormone Deficiency Type 2
|
Growth Hormone Deficiency, Isolated Autosomal Dominant
|
|
Growth Hormone Deficiency, Isolated, 2
|
Growth Hormone Deficiency Isolated Autosomal Dominant
|
|
|
| Hand-Foot-Genital Syndrome |
|
Hand-Foot-Uterus Syndrome
|
Hfgs
|
|
Hfg Syndrome
|
Hfu Syndrome
|
|
HFG
|
Hfu
|
|
Hand Foot Uterus Syndrome
|
Hand Foot Genital Syndrome
|
|
|
| Optic Nerve Hypoplasia, Bilateral |
|
Optic Nerve Hypoplasia
|
Bilateral Optic Nerve Hypoplasia
|
|
Optic Nerve Hypoplasia, Familial Bilateral
|
Familial Bilateral Optic Nerve Hypoplasia
|
|
Isolated Optic Nerve Hypoplasia/Aplasia
|
Optic Nerve Aplasia, Bilateral
|
|
Onh
|
BONH
|
|
Bilateral Optic Nerve Aplasia
|
Hypoplasia, Optic Nerve, Bilateral
|
|
|
| Pituitary Gland Disease |
|
Pituitary Diseases
|
Pituitary Dysfunction
|
|
Pituitary Disease
|
Pituitary Deficiency
|
|
Pituitary Disorders
|
|
|
| Barre-Lieou Syndrome |
|
Cervicocranial Syndrome
|
Posterior Cervical Sympathetic Syndrome
|
|
|
| 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
|
|
|
| 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
|
|
|
| Disorder Of Sexual Development |
|
Disorder Of Sex Development
|
Disorders Of Sex Development
|
|
Sex Development Disorder
|
Sex Differentiation Disease
|
|
Dsd
|
Sex Differentiation Disorders
|
|
|
| 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
|
|
|
| Holoprosencephaly |
|
Holoprosencephaly Sequence
|
Hpe
|
|
Hpe - [Holoprosencephaly]
|
|
|
| Spermatogenic Failure |
|
Azoospermia
|
Spgf
|
|
Spermatogenic Failure, Susceptibility To
|
Absent Sperm
|
|
Aspermatogenesis
|
Infertility Due To Azoospermia
|
|
Hypospermatogenesis
|
Azoospermatism
|
|
|
| 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
|
|
|
| Cleft Palate, Isolated |
|
Cleft Palate
|
Isolated Cleft Palate
|
|
CPI
|
Cp
|
|
Palatoschisis
|
Cleft Palate Isolated
|
|
Uranostaphyloschisis
|
Congenital Fissure Of Palate
|
|
Cleft Of Secondary Palate
|
|
|
| Aniridia 1 |
|
Aniridia
|
Congenital Aniridia
|
|
AN1
|
An
|
|
Cataract With Late-Onset Corneal Dystrophy
|
Aplasia Of Iris
|
|
Absent Iris
|
Irideremia
|
|
Aniridia Ii, Formerly
|
An2, Formerly
|
|
An2
|
Aniridia Type Ii
|
|
Aniridia, Type 1
|
An-1
|
|
Absence Of Iris
|
Agenesis Of Iris
|
|
Congenital Absence Of Iris
|
Hereditary Aniridia
|
|
Sporadic Aniridia
|
|
|
| Microcephaly |
|
Microencephaly
|
Microcephalus
|
|
Microcephalic
|
Nanocephaly
|
|
Congenital Microcephaly
|
Brain Hypoplasia
|
|
Brain Nondevelopment
|
Cephalic Hypoplasia
|
|
Undeveloped Cerebrum
|
Undeveloped Brain
|
|
Micrencephalon
|
Micrencephaly
|
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
