| 疾病名称 |
别名 |
|
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Pcwh Syndrome
|
PCWH
|
|
Neurologic Waardenburg-Shah Syndrome
|
Waardenburg-Shah Syndrome, Neurologic Variant
|
|
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Hirschsprung Disease-Waardenburg Syndrome
|
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
|
|
Ws4 Plus
|
Peripheral Demyelinating Neuropathy, Central Dysmyelinating Leukodystrophy, Waardenburg Syndrome And Hirschsprung Disease
|
|
Waardenburg-Shah Syndrome Neurologic Variant
|
|
|
| Waardenburg Syndrome, Type 2e |
|
Waardenburg Syndrome Type 2
|
Waardenburg Syndrome Type 2e
|
|
WS2E
|
Waardenburg Syndrome, Type 2e, With Or Without Neurologic Involvement
|
|
Waardenburg Syndrome, Type Iie
|
Hypogonadotropic Hypogonadism With Anosmia And Deafness With Or Without Hypopigmentation
|
|
Waardenburg Syndrome Type 2e With Or Without Neurologic Involvement
|
Waardenburg Syndrome Type Iie
|
|
Hypogonadotropic Hypogonadism With Anosmia And Deafness, With Or Without Hypopigmentation
|
Ws2e, With Or Without Neurologic Involvement
|
|
Ws2e With Or Without Neurological Involvement
|
Ws 2
|
|
Ws Type 2
|
Ws2
|
|
Waardenburg Syndrome Type Ii
|
Waardenburg Syndrome 2e
|
|
Kallmann Syndrome And Deafness With Or Without Hypopigmentation
|
Ws2e With Or Without Neurologic Involvement
|
|
Waardenburg Syndrome Type 2e, Without Neurologic Involvement
|
Ws-2
|
|
|
| Waardenburg Syndrome, Type 4c |
|
Waardenburg Syndrome Type 4c
|
WS4C
|
|
Waardenburg Syndrome Type Ivc
|
Waardenburg Syndrome With Hirschsprung Disease Type 4c
|
|
Waardenburg Syndrome With Hirschsprung Disease, Type 4c
|
Waardenburg Syndrome, Type Ivc
|
|
Waardenburg Syndrome 4c
|
Hirschsprung Disease With Pigmentary Anomaly
|
|
Shah-Waardenburg Syndrome
|
Waardenburg-Shah Syndrome
|
|
Waardenburg Syndrome, Type 4a
|
|
|
| Waardenburg Syndrome, Type 4a |
|
Waardenburg-Shah Syndrome
|
Shah-Waardenburg Syndrome
|
|
Waardenburg Syndrome Type 4a
|
WS4A
|
|
Ws4
|
Waardenburg Syndrome Type 4
|
|
Waardenburg Syndrome Type Iva
|
Waardenburg Syndrome With Hirschsprung Disease Type 4a
|
|
Hirschsprung Disease With Pigmentary Anomaly
|
Waardenburg-Hirschsprung Syndrome
|
|
Waardenburg Syndrome, Type Iva
|
Waardenburg Syndrome With Hirschsprung Disease, Type 4a
|
|
Waardenburg-Hirschsprung Disease
|
Waardenburg Syndrome, Type 4
|
|
Waardenburg Syndrome 4a
|
|
|
| Hirschsprung Disease 1 |
|
Hirschsprung Disease
|
Aganglionic Megacolon
|
|
Hscr
|
Hirschsprung'S Disease
|
|
Congenital Megacolon
|
Congenital Intestinal Aganglionosis
|
|
Colonic Aganglionosis
|
Hirschsprung Disease, Susceptibility To, 1
|
|
Hirschsprung Disease, Protection Against
|
HSCR1
|
|
Mgc
|
Pelvirectal Achalasia
|
|
Total Intestinal Aganglionosis
|
Megacolon, Aganglionic
|
|
Macrocolon
|
Hscr 1
|
|
Hirschsprung Disease Type 1
|
Hirschsprung Disease, Type 1
|
|
Congenital Dilatation Of Colon
|
Aganglionosis
|
|
Congenital Aganglionic Megacolon
|
Aganglionosis Of Colon
|
|
Bowel Aganglionosis
|
Colon Aganglionosis
|
|
Hirschsprung Megacolon
|
|
|
| Waardenburg Syndrome, Type 1 |
|
Waardenburg Syndrome Type 1
|
WS1
|
|
Waardenburg Syndrome Type I
|
Waardenburg Syndrome With Dystopia Canthorum
|
|
Waardenburg'S Syndrome Type 1
|
Waardenburg Syndrome 1
|
|
Waardenburg Syndrome, Type I
|
Waardenburg Syndrome
|
|
|
| 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
|
|
|
| Rare Genetic Deafness |
|
Rare Genetic Hearing Loss
|
|
|
| Megacolon |
|
|
| Waardenburg Syndrome, Type 2a |
|
Waardenburg Syndrome Type 2a
|
WS2A
|
|
Waardenburg Syndrome, Type Iia
|
Waardenburg Syndrome Without Dystopia Canthorum
|
|
Ws2
|
Waardenburg Syndrome Type Iia
|
|
Waardenburg Syndrome 2a
|
|
|
| Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Warburg-Thomsen Syndrome
|
Warburg Thomsen Syndrome
|
|
Yemenite Deaf-Blind Hypopigmentation Syndrome
|
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
|
|
YDBHS
|
|
|
| Malignant Peripheral Nerve Sheath Tumor |
|
Mpnst
|
Malignant Neurilemmoma
|
|
Neurofibrosarcoma
|
Malignant Neurofibroma
|
|
Malignant Schwannoma
|
Neurogenic Sarcoma
|
|
Schwannoma, Malignant
|
Malignant Neoplasm Of The Peripheral Nerve Sheath
|
|
Malignant Peripheral Nerve Sheath Tumors
|
|
|
| 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
|
|
|
| Waardenburg'S Syndrome |
|
Waardenburg Syndrome
|
Van Der Hoeve Halbertsma Waardenburg Gualdi Syndrome
|
|
Van Der Hoeve Halbertsona Waardenburg Syndrome
|
Waardenburg Shah Syndrome
|
|
Waardenburg, Types I And/Or Ii
|
Mende Syndrome
|
|
Waardenburgs Syndrome
|
Waardenburg Syndrome, Type 4a
|
|
|
| Mammary Analogue Secretory Carcinoma |
|
|
| Intestinal Pseudo-Obstruction |
|
Chronic Intestinal Pseudoobstruction
|
Chronic Intestinal Pseudo-Obstruction
|
|
Cipo
|
Neuronal Intestinal Dysplasia
|
|
Hollow Visceral Myopathy
|
Familial Visceral Neuropathy
|
|
Paralytic Ileus
|
Intestinal Pseudoobstruction
|
|
Chronic Idiopathic Intestinal Pseudo-Obstruction
|
Ciip
|
|
Congenital Short Bowel Syndrome
|
Enteric Neuropathy
|
|
Familial Visceral Myopathy
|
Ipo
|
|
Pseudo-Obstruction Of Intestine
|
Pseudointestinal Obstruction Syndrome
|
|
Pseudoobstructive Syndrome
|
Congenital Idiopathic Intestinal Pseudoobstruction
|
|
Visceral Myopathy, Familial
|
|
|
| Leukodystrophy |
|
|
| Pilocytic Astrocytoma |
|
Juvenile Pilocytic Astrocytoma
|
Grade I Astrocytic Tumor
|
|
Piloid Astrocytoma
|
|
|
| Inner Ear Disease |
|
Labyrinthine Dysfunction
|
Diseases Of Inner Ear
|
|
Labyrinthine Disease
|
Abnormality Of The Inner Ear
|
|
Labyrinth Diseases
|
Labyrinthine Disorder
|
|
Nonfunctioning Labyrinth
|
Labyrinthine Loss Of Function
|
|
Labyrinthine Syndrome
|
Labyrinthine Disorder Nos
|
|
|
| Cellular Schwannoma |
|
|
| Epithelioid Malignant Peripheral Nerve Sheath Tumor |
|
Epithelioid Mpnst
|
Malignant Epithelioid Neoplasm Of The Peripheral Nerve Sheath
|
|
|
| Malignant Spindle Cell Melanoma |
|
Spindle Cell Melanoma
|
Desmoplastic Melanoma
|
|
Spindle Cell Malignant Melanoma
|
Spitzoid Malignant Melanoma
|
|
|
| Waardenburg Syndrome, Type 3 |
|
Waardenburg Syndrome Type 3
|
Klein-Waardenburg Syndrome
|
|
WS3
|
Waardenburg Syndrome With Upper Limb Anomalies
|
|
Waardenburg Syndrome Type Iii
|
Waardenburg Syndrome, Type Iii
|
|
White Forelock Syndrome With Multiple Congenital Malformations
|
Waardenburg Syndrome With Limb Anomalies
|
|
Waardenburg Syndrome 3
|
White Forelock With Malformations
|
|
Klein'S Syndrome
|
|
|
| Tietz Albinism-Deafness Syndrome |
|
Tietz Syndrome
|
Albinism-Deafness Of Tietz
|
|
Hypopigmentation/Deafness Of Tietz
|
Tietze'S Syndrome
|
|
TADS
|
Costochondral Junction Syndrome
|
|
Costochondritis
|
Tietze Syndrome
|
|
Hypopigmentation-Deafness Syndrome
|
Costalchondritis
|
|
Slipping Rib Syndrome
|
Tietze'S Disease
|
|
Chondropathia Tuberosa
|
Albinism And Complete Nerve Deafness
|
|
Tietz'S Syndrome
|
Hypopigmentation-Hearing Loss Syndrome
|
|
Costal Chondritis
|
Abnormality Of The Costochondral Junction
|
|
|
| Cellular Neurofibroma |
|
|
| Neurofibroma Of The Esophagus |
|
|
| Waardenburg Syndrome, Type 2c |
|
Waardenburg Syndrome Type 2c
|
WS2C
|
|
Waardenburg Syndrome, Type Iic
|
Waardenburg Syndrome Type Iic
|
|
|
| Spinal Cord Melanoma |
|
Melanoma Of The Spinal Cord
|
|
|
| Waardenburg Syndrome, Type 2b |
|
Waardenburg Syndrome Type 2b
|
WS2B
|
|
Waardenburg Syndrome, Type Iib
|
Waardenburg Syndrome Type Iib
|
|
|
| Neurilemmoma |
|
Schwannoma
|
Benign Schwannoma
|
|
Neurilemoma
|
Peripheral Fibroblastoma
|
|
Psammomatous Schwannoma
|
Neurolemmoma
|
|
Schwannomas
|
|
|
| Waardenburg Syndrome, Type 2d |
|
Waardenburg Syndrome Type 2d
|
WS2D
|
|
Waardenburg Syndrome, Type Iid
|
Waardenburg Syndrome Type Iid
|
|
Waardenburg Syndrome 2d
|
|
|
| Neurofibroma |
|
Neurofibromas
|
Neurofibromatoses
|
|
Nerve Sheath Tumors
|
|
|
| Charcot-Marie-Tooth Disease |
|
Cmt
|
Hmsn
|
|
Hereditary Motor And Sensory Neuropathy
|
Pma
|
|
Cmt - Charcot-Marie-Tooth Disease
|
Charcot Marie Tooth Disease
|
|
Charcot-Marie-Tooth Hereditary Neuropathy
|
Charcot-Marie-Tooth Syndrome
|
|
Peroneal Muscular Atrophy
|
Hereditary Motor And Sensory Neuropathies
|
|
|
| Neuropathy |
|
Peripheral Neuropathy
|
Peripheral Neuropathies
|
|
|
| Salivary Gland Carcinoma |
|
Salivary Gland Cancer
|
Malignant Neoplasm Of Salivary Gland
|
|
Salivary Gland Neoplasms
|
|
|
| Oligodendroglioma |
|
Oligodendroglial Neoplasm
|
Oligodendroglial Tumor
|
|
Oligodendroglial Tumors
|
Well Differentiated Oligodendroglioma
|
|
|
| Plexiform Schwannoma |
|
Plexiform Neurilemmoma
|
Plexiform Neurinoma
|
|
|
| Atypical Neurofibroma |
|
|
| Myoepithelial Carcinoma |
|
Malignant Myoepithelioma
|
Myoepithelioma Carcinoma
|
|
|
| Large Congenital Melanocytic Nevus |
|
Giant Pigmented Hairy Nevus
|
Giant Congenital Melanocytic Nevus
|
|
Gmn
|
Congenital Pigmented Nevus
|
|
Lcmn
|
Gphn
|
|
Giant Congenital Nevus
|
Bathing Trunk Nevus
|
|
Congenital Giant Pigmented Nevus
|
Congenital Hairy Nevus
|
|
Giant Hairy Nevus
|
Giant Pigmented Nevus
|
|
Congenital Giant Pigmented Nevus Of Skin
|
Congenital Melanocytic Nevus Syndrome
|
|
Giant Congenital Melanocytic Nevi
|
Giant Congenital Pigmented Nevus
|
|
Melanocytic Nevus Syndrome, Congenital
|
|
|
| Lipofibromatosis-Like Neural Tumor |
|
|
| Conjunctival Pigmentation |
|
|
| Intraneural Perineurioma |
|
|
| Malignant Giant Cell Tumor Of The Tendon Sheath |
|
Giant Cell Tumour Of Tendon Sheath, Malignant
|
Malignant Giant Cell Neoplasm Of The Tendon Sheath
|
|
|
| Bilateral Hypoactive Labyrinth |
|
Hypoactive Bilateral Labyrinthine Dysfunction
|
Hypoactive Labyrinth, Bilateral
|
|
|
| Melanotic Neurilemmoma |
|
Melanotic Schwannoma
|
Pigmented Neurilemmoma
|
|
Pigmented Schwannoma
|
|
|
| Endobronchial Lipoma |
|
|
| Malignant Triton Tumor |
|
Malignant Peripheral Nerve Sheath Neoplasm With Rhabdomyosarcoma
|
Malignant Triton Tumour
|
|
Mpnst With Rhabdomyoblastic Differentiation
|
Mpnst With Rhabdomyosarcoma
|
|
Mpnst With Rhabdomyosarcomatous Differentiation
|
Mtt
|
|
Malignant Peripheral Nerve Sheath Tumor With Rhabdomyosarcomatous Differenciation
|
Malignant Peripheral Nerve Sheath Tumor With Rhabdomyoblastic Differentiation
|
|
|
| Sarcomatoid Basal Cell Carcinoma |
|
Skin Sarcomatoid Basal Cell Carcinoma
|
|
|
| Malignant Granular Cell Myoblastoma |
|
Malignant Granular Cell Tumor
|
Granular Cell Tumor, Malignant
|
|
Malignant Granular Cell Neoplasm
|
|
|
| Spiradenoma |
|
Eccrine Spiradenoma
|
Benign Eccrine Spiradenoma
|
|
Eccrine Spiradenoma Of Skin
|
Es
|
|
Eccrine Spiradenoma, Benign
|
|
|
| Gallbladder Melanoma |
|
Malignant Melanoma Of Gallbladder
|
|
|
| Demyelinating Polyneuropathy |
|
Peripheral Demyelinating Neuropathy
|
Demyelinating Peripheral Neuropathy
|
|
|
| Microphthalmia |
|
Microphthalmos
|
Isolated Anophthalmia-Microphthalmia Syndrome
|
|
Isolated Microphthalmia-Anophthalmia-Coloboma
|
Simple Microphthalmos
|
|
Clinical Anophthalmia
|
Isolated Anophthalmia - Microphthalmia
|
|
Isolated Pure Microphthalmia
|
Mac Spectrum
|
|
Microphthalmia-Anophthalmia-Coloboma Spectrum
|
Primitive Anophthalmia
|
|
Globe Of Eye Small
|
Small Eyeball
|
|
Hypoplasia Of Eye
|
Isolated Nanophthalmos
|
|
Rudimentary Eye
|
Dysplasia Of Eye
|
|
|
| Small Intestine Leiomyosarcoma |
|
Leiomyosarcoma Of The Small Bowel
|
Smooth Muscle Connective Tissue Tumor
|
|
Leiomyosarcoma Of Small Intestine
|
|
|
| Sweat Gland Benign Neoplasm |
|
Neoplasm Of Sweat Gland
|
Sweat Gland Tumor
|
|
Tumor Of The Sweat Gland
|
Sweat Gland Neoplasms
|
|
Sweat Gland Neoplasm
|
|
|
| Epithelial-Myoepithelial Carcinoma |
|
Clear Cell Adenoma
|
Adenomyo-Epithelioma
|
|
Clear Cell Carcinoma
|
Emc
|
|
Epithelial Myoepithelial Carcinoma
|
Glycogen-Rich Adenocarcinoma
|
|
Glycogen-Rich Adenoma
|
Monomorphic Clear Cell Tumor
|
|
Tubular Solid Adenoma
|
Adenocarcinoma, Clear Cell
|
|
|
| Solitary Fibrous Tumor/Hemangiopericytoma |
|
|
| Combined Oxidative Phosphorylation Deficiency 13 |
|
COXPD13
|
Combined Oxidative Phosphorylation Defect Type 13
|
|
Combined Oxidative Phosphorylation Deficiency, Type 13
|
|
|
| Sarcomatoid Squamous Cell Skin Carcinoma |
|
Spindle Cell Squamous Cell Carcinoma
|
Spindle Cell Squamous Cell Carcinoma
|
|
Spindle Cell Squamous Cell Skin Carcinoma
|
Spindle Cell Squamous Carcinoma Of Skin
|
|
Squamous Cell Carcinoma, Sarcomatoid
|
|
|
| Paraganglioma |
|
Chemodectoma
|
Glomus Body Tumor
|
|
Paragangliomas
|
Carotid Body Paraganglioma
|
|
Extra-Adrenal Paraganglioma
|
|
|
| Amelanotic Melanoma |
|
Melanoma, Amelanotic
|
Melanoma Amelanotic
|
|
Amelanotic Skin Melanoma
|
|
|
| Malignant Glandular Tumor Of Peripheral Nerve Sheath |
|
Glandular Mpnst
|
Glandular Malignant Peripheral Nerve Sheath Tumor
|
|
|
| Breast Granular Cell Tumor |
|
|
| Mowat-Wilson Syndrome |
|
MOWS
|
Microcephaly, Mental Retardation, And Distinct Facial Features, With Or Without Hirschsprung Disease
|
|
Hirschsprung Disease-Mental Retardation Syndrome
|
Mowat-Wilson Syndrome Due To Monosomy 2q22
|
|
Hirschsprung Disease Mental Retardation Syndrome
|
Microcephaly, Mental Retardation, And Distinct Facial Featrues, With Or Without Hirschprung Disease
|
|
Hirschsprung Disease - Intellectual Disability Syndrome
|
Hirschsprung Disease Intellectual Disability Syndrome
|
|
Intellectual Disability, Microcephaly, And Distinct Facial Features With Or Without Hirschsprung Disease
|
Mws
|
|
Hirschsprung Disease-Intellectual Disability Syndrome
|
Hirschsprung Disease And Intellectual Disability Due To 2q22 Microdeletion
|
|
Hirschsprung Disease And Intellectual Disability Due To Del(2)(Q22)
|
Hirschsprung Disease And Intellectual Disability Due To Monosomy 2q22
|
|
Mowat-Wilson Syndrome Due To 2q22 Microdeletion
|
Mowat-Wilson Syndrome Due To Del(2)Q(22)
|
|
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
|
Hirschsprung Disease And Intellectual Disability Due To A Zeb2 Point Mutation
|
|
|
| Pericytoma With T(7;12) |
|
|
| Charcot-Marie-Tooth Disease And Deafness |
|
Charcot-Marie-Tooth Disease Type 1e
|
CMT1E
|
|
Charcot-Marie-Tooth Disease Type 1
|
Hereditary Motor And Sensory Neuropathy Type 1
|
|
Charcot-Marie-Tooth Disease, Demyelinating, Type 1e
|
Charcot-Marie-Tooth Disease, Type I
|
|
Charcot-Marie-Tooth Neuropathy And Deafness, Autosomal Dominant
|
Charcot-Marie-Tooth Disease, Type 1e
|
|
Charcot-Marie-Tooth Disease Demyelinating Type 1e
|
Autosomal Dominant Demyelinating Charcot-Marie-Tooth Disease
|
|
Cmt1
|
Charcot-Marie-Tooth Neuropathy Type 1
|
|
Autosomal Dominant Charcot-Marie-Tooth Neuropathy And Deafness
|
Charcot-Marie-Tooth Disease-Deafness
|
|
Charcot-Marie-Tooth Type 1
|
Hmsn1
|
|
Hereditary Motor And Sensory Neuropathy 1
|
Cmt 1e
|
|
Charcot Marie Tooth Disease Type 1e
|
Charcot-Marie-Tooth Disease-Deafness Syndrome
|
|
Charcot-Marie-Tooth Disease-Hearing Loss Syndrome
|
Charcot-Marie-Tooth Disease 1e
|
|
Charcot-Marie-Tooth Disease And Deafness Autosomal Dominant
|
Charcot-Marie-Tooth Neuropathy Type 1e
|
|
Charcot-Marie-Tooth Disease, Type Ie
|
Hereditary Motor And Sensory Neuropathy Type I
|
|
|
| Syringocystadenoma Papilliferum |
|
Fistulous Vegetative Verrucous Hydradenoma
|
Papillary Syringadenoma
|
|
Naevus Syringocystadenomatosus Papilliferus
|
Papillary Syringocystadenoma
|
|
Scap
|
Syringadenoma Papilliferum
|
|
Papillary Hidradenoma
|
|
|
| Monophasic Synovial Sarcoma |
|
Monophasic Sarcoma Of Synovium
|
|
|
| Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Charcot-Marie-Tooth Disease Type 4
|
Charcot-Marie-Tooth Disease Type 4e
|
|
Hereditary Motor And Sensory Neuropathy
|
Cmt4e
|
|
CHN1
|
Hypomyelinating Neuropathy, Congenital, 1
|
|
Charcot-Marie-Tooth Neuropathy Type 4e
|
Neuropathy, Congenital Hypomyelinating, 1
|
|
Ar-Cmt1
|
Autosomal Recessive Demyelinating Charcot-Marie-Tooth
|
|
Cmt4
|
Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive
|
|
Hypomyelination, Severe Congenital
|
Charcot-Marie-Tooth Disease, Type 4e
|
|
Charcot-Marie-Tooth Neuropathy, Type 4e
|
Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy
|
|
Autosomal Recessive Congenital Hypomyelinating Neuropathy
|
Congenital Amyelinating Neuropathy
|
|
Congenital Hypomyelinating Neuropathy Autosomal Recessive
|
Neuropathy, Congenital Hypomyelinating Or Amyelinating
|
|
Severe Congenital Hypomyelination
|
Hereditary Sensory Motor Neuropathy
|
|
Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive
|
Neuropathy, Hypomyelinating, Congenital, Type 1
|
|
Neuropathy, Motor And Sensory, Hereditary
|
Congenital Hypomyelinating Neuropathy
|
|
Hereditary Motor And Sensory Neuropathies
|
Hereditary Sensorimotor Neuropathy
|
|
Hmsn - [Hereditary Motor And Sensory Neuropathy]
|
Hsmn - [Hereditary Sensory And Motor Neuropathy]
|
|
Hereditary Motor And Sensory Neuropathy, Types I-Iv
|
|
|
| Apocrine Sweat Gland Neoplasm |
|
Apocrine Tumor
|
Apocrine Neoplasm
|
|
|
| Peripheral Nervous System Benign Neoplasm |
|
|
| Autonomic Nervous System Benign Neoplasm |
|
|
| Myoblastoma |
|
Benign Granular Cell Tumor
|
|
|
| Nodular Malignant Melanoma |
|
|
| Fibrous Histiocytoma |
|
Benign Fibrous Histiocytoma
|
Histiocytoma, Benign Fibrous
|
|
Fibroxanthoma
|
Histiocytoma Fibrous
|
|
|
| Gallbladder Signet Ring Cell Adenocarcinoma |
|
Signet Ring Cell Carcinoma Of The Gallbladder
|
|
|
| Clear Cell Sarcoma |
|
Sarcoma, Clear Cell
|
Adult Soft Part Clear Cell Sarcoma
|
|
Clear Cell Sarcoma Of Soft Parts
|
Malignant Melanoma Of Soft Parts
|
|
Malignant Melanoma Of Soft Tissues
|
Melanoma, Malignant, Of Soft Parts
|
|
Sarcoma Clear Cell
|
|
|
| Salivary Gland Adenoid Cystic Carcinoma |
|
|
| Perivascular Tumor |
|
Malignant Perivascular Cancer
|
|
|
| Cutaneous Fibrous Histiocytoma |
|
Dermatofibroma
|
Fibrohistiocytic Tumor
|
|
Benign Cutaneous Fibrous Histiocytoma
|
Fibrous Histiocytoma Of Skin
|
|
Fibrous Xanthoma Of Skin
|
Pleomorphic Fibroma
|
|
Sclerosing Angioma
|
Sclerosing Angioma Of Skin
|
|
Fibrous Histiocytoma
|
|
|
| Mucosal Melanoma |
|
|
| Plexiform Neurofibroma |
|
Neurofibroma Plexiform
|
Neurofibroma, Plexiform
|
|
|
| Pelizaeus-Merzbacher Disease |
|
PMD
|
HLD1
|
|
Pelizaeus-Merzbacher Brain Sclerosis
|
Leukodystrophy, Hypomyelinating, 1
|
|
Diffuse Familial Brain Sclerosis
|
Pelizaeus Merzbacher Brain Sclerosis
|
|
Sudanophilic Leukodystrophy, Paelizeus-Merzbacher Type
|
Cockayne-Pelizaeus-Merzbacher Disease
|
|
Hypomyelinating Leukodystrophy 1
|
Leukodystrophy, Sudanophilic
|
|
Pelizaeus Merzbacher Disease
|
Hypomyelinating Leukodystrophy, 1
|
|
Sudanophilic Leukodystrophy
|
Pelizaeus-Merzbacher Disease, Connatal Form
|
|
Connatal Pmd
|
Pelizaeus-Merzbacher Disease Type Ii
|
|
Severe Pmd
|
Null Syndrome
|
|
Plp1 Null Syndrome
|
Pelizaeus-Merzbacher Disease, Null Syndrome
|
|
Brain Sclerosis Diffuse Familial
|
Sudanophilic Leukodystrophy Paelizeus-Merzbacher Type
|
|
Leukodystrophy Hypomyelinating 1
|
Diffuse Cerebral Sclerosis Of Schilder
|
|
|
| Melanoma In Congenital Melanocytic Nevus |
|
Malignant Melanoma In Congenital Melanocytic Nevus
|
Melanocytic Nevi
|
|
Nevi Melanocytic
|
|
|
| Infantile Myofibromatosis |
|
Lipofibromatosis
|
Myofibromatosis
|
|
|
| Piebald Trait |
|
Piebaldism
|
PBT
|
|
Partial Albinism
|
Albinoidism, Oculocutaneous, Autosomal Dominant
|
|
|
| Tonsil Cancer |
|
Tonsillar Neoplasms
|
Malignant Neoplasm Of Faucial Tonsil
|
|
Malignant Neoplasm Of Palatine Tonsil
|
Malignant Neoplasm Of Tonsil, Faucial
|
|
Malignant Tonsillar Tumor
|
Malignant Tumor Of Tonsil
|
|
Tonsillar Carcinoma
|
Malignant Neoplasm Tonsil
|
|
|
| Melanoma |
|
Malignant Melanoma
|
Cutaneous Melanoma
|
|
Naevocarcinoma
|
Malignant Melanomas
|
|
|
| Sensorineural Hearing Loss |
|
Sensory Hearing Loss
|
Sensorineural Deafness
|
|
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
|
Hearing Loss Sensorineural
|
|
Deafness Sensorineural
|
Hearing Loss High-Frequency
|
|
Hearing Loss, Central
|
Hearing Loss, High-Frequency
|
|
|
| Spindle Cell Sarcoma |
|
Sarcoma
|
Sarcoma Spindle Cell
|
|
Sarcoma, Spindle Cell
|
Sarcoma - Category
|
|
|
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1a |
|
Charcot-Marie-Tooth Disease Type 1a
|
CMT1A
|
|
Charcot-Marie-Tooth Disease, Type Ia
|
Hmsn1a
|
|
Hereditary Motor And Sensory Neuropathy Ia
|
Hmsn Ia
|
|
Charcot-Marie-Tooth Neuropathy, Type 1a
|
Charcot-Marie-Tooth Disease, Type 1a
|
|
Charcot-Marie-Tooth Neuropathy Type 1a
|
Hereditary Motor And Sensory Neuropathy 1a
|
|
Microduplication 17p12
|
Charcot-Marie-Tooth Disease, Autosomal Dominant, With Focally Folded Myelin Sheaths, Type 1a
|
|
Autosomal Dominant Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 1a
|
Cmt 1a
|
|
Charcot Marie Tooth Disease Type 1a
|
Hmsn 1a
|
|
Charcot-Marie-Tooth Disease 1a
|
Charcot-Marie-Tooth Disease Demyelinating Type 1a
|
|
Charcot-Marie-Tooth Disease Slow Nerve Conduction Type Unlinked To Duffy
|
|
|
| Mixed Lacrimal Gland Cancer |
|
Carcinoma Ex Pleomorphic Adenoma Of Lacrimal Gland
|
Carcinoma Ex Pleomorphic Adenoma Of The Lacrimal Gland
|
|
Malignant Mixed Neoplasm Of Lacrimal Gland
|
|
|
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
SMDCD
|
Spondylometaphyseal Dysplasia-Corneal Dystrophy Syndrome
|
|
Smd-Corneal Dystrophy Syndrome
|
|
|
| Intravascular Fasciitis |
|
Intravascular Pseudosarcomatous Fasciitis
|
|
|
| Neurofibrosarcoma |
|
Neurosarcoma
|
Malignant Peripheral Nerve Sheath Tumor
|
|
|
| Glioblastoma |
|
Glioblastoma Multiforme
|
Gbm
|
|
Adult Glioblastoma Multiforme
|
Grade Iv Adult Astrocytic Tumor
|
|
Primary Glioblastoma Multiforme
|
Spongioblastoma Multiforme
|
|
Adult Glioblastoma
|
Primary Glioblastoma
|
|
|
| Middle Ear Adenocarcinoma |
|
Adenocarcinoma Of Middle Ear
|
Adenocarcinoma Of The Middle Ear
|
|
|
| Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss, Autosomal Recessive |
|
Split Hand-Foot Malformation 1 With Sensorineural Hearing Loss
|
SHFM1D
|
|
Deafness, Congenital, With Split Hands And Feet
|
Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss
|
|
Congenital Deafness With Split Hands And Feet
|
Split Hand-Split Foot-Deafness Syndrome
|
|
Split Hand-Split Foot-Hearing Loss Syndrome
|
Congenital Deafness And Split Hands And Feet
|
|
Split-Hand/Foot Malformation, Type 1 With Sensorineural Hearing Loss
|
Split-Hand-Foot Malformation With Sensorineural Hearing Loss
|
|
|
| Neurilemmomatosis |
|
Schwannomatosis
|
Neurofibromatosis Type 3
|
|
Nf3
|
Neurilemmomatosis Congenital Cutaneous
|
|
Neurinomatosis
|
Congenital Cutaneous Neurilemmomatosis
|
|
Multiple Neurilemmomas
|
Multiple Schwannomas
|
|
Neurilemmomatosis, Congenital Cutaneous
|
Schwannomatosis 1
|
|
Neurofibromatosis 3
|
Mixed Central And Peripheral Neurofibromatosis
|
|
Nf3 - [Neurofibromatosis Type 3]
|
|
|
| Sweat Gland Disease |
|
|
| Dermatofibrosarcoma Protuberans |
|
DFSP
|
Dermatofibrosarcoma
|
|
Giant Cell Fibroblastoma
|
Metastatic Dermatofibrosarcoma Protuberans
|
|
Familial Dermatofibrosarcoma Protuberans
|
Darier-Ferrand Tumor
|
|
Darier-Hoffmann Tumor
|
|
|
| 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
|
|
|
| Cervix Melanoma |
|
|
| 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
|
|
|
| Branchiooculofacial Syndrome |
|
Branchio-Oculo-Facial Syndrome
|
BOFS
|
|
Bof Syndrome
|
Hemangiomatous Branchial Clefts-Lip Pseudocleft Syndrome
|
|
Lip Pseudocleft-Hemangiomatous Branchial Cyst Syndrome
|
Branchial Clefts With Characteristic Facies, Growth Retardation, Imperforate Nasolacrimal Duct, And Premature Aging
|
|
Branchial Clefts With Characteristic Facies Growth Retardation Imperforate Nasolacrimal Duct And Premature Aging
|
Bofs Syndrome
|
|
Lip Pseudocleft-Hemagiomatous Branchial Cyst Syndrome
|
|
|
| Meningioma, Familial |
|
Meningioma
|
Familial Meningioma
|
|
Meningioma, Familial, Susceptibility To
|
Meningeal Neoplasm
|
|
Meningeal Neoplasms
|
Meningiomas
|
|
Meningioma, Nf2-Related, Somatic
|
Meningioma, Sis-Related
|
|
Meningothelial Cell Tumor
|
Neoplasm Of The Meninges
|
|
Primary Meningeal Tumor
|
Familial Multiple Meningioma
|
|
MNGMA
|
Meningioma, Benign, No Icd-O Subtype
|
|
Intracranial Meningioma
|
Meningothelial Cell Neoplasm
|
|
Supratentorial Meningioma
|
Primary Neoplasm Of Spinal Meninges
|
|
Benign Intracranial Meningioma
|
Benign Meningioma
|
|
Meningeal Tumours
|
Meningeal Sarcoma Of Unspecified Site
|
|
Meningothelial Sarcoma Of Unspecified Site
|
|
|
| Myxofibrosarcoma |
|
Fibromyxosarcoma
|
Fibromyxoid Sarcoma
|
|
Myxoid Malignant Fibrous Histiocytoma
|
Dermatofibrosarcoma Protuberans, Myxoid
|
|
|
| Chondrosarcoma, Extraskeletal Myxoid |
|
Extraskeletal Myxoid Chondrosarcoma
|
Emc
|
|
Myxoid Extraosseous Chondrosarcoma
|
|
|
| Salivary Gland Disease |
|
Salivary Gland Disorders
|
Salivary Gland Diseases
|
|
Non-Neoplastic Salivary Gland Disease
|
Non-Neoplastic Salivary Gland Disorder
|
|
Disorder Of Salivary Gland
|
Lesion Of Salivary Gland Nos
|
|
|
| Schizophrenia |
|
SCZD
|
Schizophrenia With Or Without An Affective Disorder
|
|
Schizophrenia 12
|
Schizophrenia, Susceptibility To
|
|
Schizophrenia-1
|
Dementia Praecox
|
|
Schizophrenia 1
|
|
|
| Hypomyelinating Leukodystrophy |
|
Hld
|
Leukodystrophy, Hypomyelinating
|
|
|
| Leukodystrophy, Hypomyelinating, 2 |
|
Pmld1
|
Hypomyelinating Leukodystrophy 2
|
|
HLD2
|
Pelizaeus-Merzbacher-Like Disease 1
|
|
Pelizaeus-Merzbacher-Like Disease Due To Gjc2 Mutation
|
Pelizaeus-Merzbacher-Like Disease Type 1
|
|
Pelizaeus-Merzbacher-Like Disease, 1
|
Pelizaeus Merzbacher Like Disease
|
|
Pelizaeus-Merzbacher-Like Disease
|
Pmld - Pelizaeus Merzbacher Like Disease
|
|
Pelizaeus-Merzbacher-Like Disease Autosomal Recessive Type 1
|
Pmldar1
|
|
Leukodystrophy, Hypomyelinating, Type 2
|
|
|
| Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Dejerine-Sottas Disease
|
Dejerine-Sottas Syndrome
|
|
Charcot-Marie-Tooth Disease Type 3
|
DSS
|
|
Hereditary Motor And Sensory Neuropathy Type Iii
|
Hmsn3
|
|
Dejerine-Sottas Neuropathy
|
Hmsn Iii
|
|
Charcot-Marie-Tooth Disease, Type 3
|
Cmt3
|
|
Dsn
|
Hmsn 3
|
|
Hereditary Motor And Sensory Neuropathy Type 3
|
Hereditary Motor And Sensory Neuropathy 3
|
|
Hypertrophic Neuropathy Of Infancy
|
Charcot-Marie-Tooth Disease Demyelinating Type 4f
|
|
Charcot-Marie-Tooth Disease Type 4f
|
Charcot-Marie-Tooth Neuropathy Type 4f
|
|
Cmt4f
|
Hereditary Motor And Sensory Neuropathy Iii
|
|
Charcot-Marie-Tooth Disease, Demyelinating, Type 4f
|
|
|
| Cerebral Degeneration |
|
Brain Degeneration
|
Degenerative Brain Disorder
|
|
|
| Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Mental Retardation, X-Linked 3
|
Methylmalonic Acidemia With Homocystinuria, Type Cblx
|
|
MAHCX
|
Intellectual Developmental Disorder, X-Linked 3
|
|
Xlid3
|
Mrx3
|
|
Methylmalonic Acidemia And Homocysteinemia Cblx Type
|
Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cblx
|
|
Methylmalonic Aciduria With Homocystinuria, Type Cblx
|
Methylmalonic Acidemia And Homocysteinemia, Cblx Type
|
|
Methylmalonic Aciduria And Homocysteinemia, Cblx Type
|
Methylmalonic Aciduria And Homocysteinemia , Cblx Type
|
|
Mental Retardation, X-Linked, Type 3
|
|
|
| Congenital Granular Cell Tumor |
|
|
| Anus Basaloid Carcinoma |
|
Basaloid Carcinoma Of The Anus
|
Anal Basaloid Carcinoma
|
|
|
| Cleft Palate, Isolated |
|
Cleft Palate
|
Isolated Cleft Palate
|
|
CPI
|
Cp
|
|
Palatoschisis
|
Cleft Palate Isolated
|
|
Uranostaphyloschisis
|
Congenital Fissure Of Palate
|
|
Cleft Of Secondary Palate
|
|
|
| Capillary Lymphangioma |
|
Microcystic Lymphatic Malformation
|
Capillary Lymphatic Malformation
|
|
Microcystic Infiltrating Lymphatic Malformation
|
Microcystic Lymphangioma
|
|
Superficial Lymphangioma
|
Cutaneous Lymphangioma Circumscriptum
|
|
Superficial Lymphatic Malformation
|
Cutaneous Lymphangioma
|
|
Lymphangioma Of Skin
|
Lymphangioma Circumscriptum
|
|
|
| Orofacial Cleft |
|
|
| 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
|
|
|
| Adult Malignant Schwannoma |
|
Adult Mpnst
|
Adult Neurofibrosarcoma
|
|
|
| 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
|
|
|
| Melanoma, Cutaneous Malignant 1 |
|
Familial Melanoma
|
Melanoma, Cutaneous Malignant, Susceptibility To, 1
|
|
Melanoma, Malignant
|
CMM1
|
|
Melanoma, Cutaneous Malignant
|
Cmm
|
|
Familial Atypical Mole-Malignant Melanoma Syndrome
|
Fammm
|
|
Melanoma, Familial
|
Mlm
|
|
Dysplastic Nevus Syndrome, Hereditary
|
Dns
|
|
B-K Mole Syndrome
|
Melanoma, Cutaneous Malignant, 1
|
|
Malignant Melanoma, Cutaneous
|
Melanoma, Cutaneous, Malignant, Susceptibility To, Type 1
|
|
Dysplastic Nevus Syndrome
|
Cutaneous Melanoma
|
|
Familial Atypical Mole Melanoma Syndrome
|
Hereditary Melanoma
|
|
|
| Peripheral Nervous System Disease |
|
Peripheral Neuropathy
|
Peripheral Nerve Disease
|
|
Peripheral Nerve Disorders
|
Neuropathy, Peripheral
|
|
Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
|
|
|
| Gastrointestinal Stromal Tumor |
|
GIST
|
Gastrointestinal Stromal Tumors
|
|
Gastrointestinal Stromal Sarcoma
|
Gastrointestinal Stromal Tumor, Familial
|
|
Gant
|
Gastrointestinal Stromal Tumour
|
|
Stromal Tumor Of Gastrointestinal Tract
|
Stromal Tumour Of Gastrointestinal Tract
|
|
Gastrointestinal Stromal Neoplasm
|
Paraganglioma And Gastric Stromal Sarcoma
|
|
Plexosarcoma
|
|
|
| Melanoma, Uveal |
|
Uveal Melanoma
|
Choroidal Melanoma
|
|
Melanoma Of Uvea
|
Iris Melanoma
|
|
Malignant Melanoma Of Choroid
|
Malignant Melanoma Of Iris
|
|
|
| Neuromuscular Disease |
|
Neuromuscular Diseases
|
Neuromuscular Disorders
|
|
Neuromuscular Disorder
|
|
|
| Nervous System Disease |
|
Abnormality Of The Nervous System
|
Nervous System Diseases
|
|
Nervous System Disorder
|
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
