| Diseases |
Alias |
|
| Albinism, Oculocutaneous, Type Ia |
|
Oculocutaneous Albinism Type 1
|
OCA1A
|
|
Oca1
|
Oculocutaneous Albinism, Tyrosinase-Negative
|
|
Atn
|
Tyrosinase-Negative Oculocutaneous Albinism
|
|
Albinism I
|
Oculocutaneous Albinism Type Ia
|
|
Oculocutaneous Albinism Type 1a
|
Oculocutaneous Albinism, Type I
|
|
Albinism 1
|
Oculocutaneous Albinism, Tyrosinase Negative
|
|
Albinism, Oculocutaneous, 1a
|
Albinism Oculocutaneous Ia
|
|
Oca-1a
|
Oca-Ia
|
|
Oculocutaneous Albinism Tyrosinase Negative
|
Albinism, Oculocutaneous, Type I
|
|
|
| Albinism, Oculocutaneous, Type Ib |
|
OCA1B
|
Oculocutaneous Albinism Type 1b
|
|
Albinism, Yellow Mutant Type
|
Yellow Albinism
|
|
Oculocutaneous Albinism Type Ib
|
Temperature-Sensitive Oculocutaneous Albinism Type 1
|
|
Oculocutaneous Albinism, Type Ib
|
Yellow Mutant Albinism
|
|
Oca1-Ts
|
Ts Oca Type 1
|
|
Oculocutaneous Albinism, Amish Type
|
Platinum Oculocutaneous Albinism
|
|
Yellow Oculocutaneous Albinism
|
Albinism, Oculocutaneous, 1b
|
|
Albinism Yellow Mutant Type
|
Oca-Ib
|
|
Oca-Its
|
Oculocutaneous Albinism Type I Temperature-Sensitive
|
|
Albinism, Oculocutaneous, Type I, Temperature-Sensitive
|
Minimal Pigment Oculocutaneous Albinism
|
|
|
| Skin/Hair/Eye Pigmentation, Variation In, 3 |
|
Skin/Hair/Eye Pigmentation 3, Blue/Green Eyes
|
SHEP3
|
|
Skin/Hair/Eye Pigmentation 3, Light/Dark Skin
|
Skin/Hair/Eye Pigmentation 3, Blue/Green Eye Color
|
|
Eye Color 1
|
Eycl1
|
|
Eye Color, Green/Blue
|
Gey
|
|
Skin/Hair/Eye Pigmentation 3, Light/Dark/Freckling Skin
|
Melanoma, Cutaneous Malignant, Susceptibility To, 8
|
|
Melanoma, Cutaneous Malignant 8
|
Skin/Hair/Eye Pigmentation 3, Freckling
|
|
|
| Albinism |
|
|
| Oculocutaneous Albinism |
|
Albinism, Oculocutaneous
|
Oca
|
|
Albinism Oculocutaneous
|
Oca - [Oculocutaneous Albinism]
|
|
|
| Ocular Albinism |
|
Albinism, Ocular
|
Oa
|
|
Xloa
|
Albinism Ocular
|
|
|
| Strabismus |
|
Strabismus, Susceptibility To
|
Strabismus, Susceptibility To, 1
|
|
Strabismus 1
|
|
|
| Albinism, Ocular, With Late-Onset Sensorineural Deafness |
|
Ocular Albinism With Sensorineural Deafness
|
OASD
|
|
Deafness And Ocular Albinism
|
Ocular Albinism With Late-Onset Sensorineural Deafness
|
|
Albinism, Ocular, With Sensorineural Deafness
|
Autosomal Recessive Waardenburg Syndrome Type 2 With Ocular Albinism
|
|
Digenic Waardenburg Syndrome/Albinism
|
Digenic Waardenburg Syndrome/Ocular Albinism
|
|
Ws2-Oa
|
Albinism Ocular Late Onset Sensorineural Deafness
|
|
Ocular Albinism With Late-Onset Sensorineural Hearing Loss
|
Waardenburg Syndrome/Ocular Albinism, Digenic
|
|
Waardenburg Syndrome/Albinism, Digenic
|
Ocular Albinism And Sensorineural Deafness
|
|
|
| Optic Nerve Disease |
|
Optic Neuropathy
|
Disorder Of The Second Nerve
|
|
Optic Nerve Disorder
|
Optic Nerve
|
|
Abnormality Of The Optic Nerve
|
Optic Nerve Disorders
|
|
Neuropathy, Optic
|
Disorder Of The Optic Nerve
|
|
|
| Hypopigmentation Of The Skin |
|
|
| Minimal Pigment Oculocutaneous Albinism Type 1 |
|
|
| Myopia |
|
Near-Sightedness
|
Short-Sightedness
|
|
Nearsightedness
|
Nearsighted
|
|
Near Vision
|
Close Sighted
|
|
Myopic
|
Short-Sighted
|
|
Near Sighted
|
|
|
| Skin Disease |
|
Skin Diseases
|
Genodermatosis
|
|
Abnormality Of The Skin
|
Skin Diseases, Genetic
|
|
Skin And Subcutaneous Tissue Disease
|
Dermatologic Disorders
|
|
|
| Amelanotic Melanoma |
|
Melanoma, Amelanotic
|
Melanoma Amelanotic
|
|
Amelanotic Skin Melanoma
|
|
|
| Melanoma, Cutaneous Malignant 8 |
|
Melanoma, Cutaneous Malignant, Susceptibility To, 8
|
CMM8
|
|
Melanoma And Renal Cell Carcinoma
|
Melanoma And Renal Cell Carcinoma, Susceptibility To
|
|
Mitf-Related Melanoma And Renal Cell Carcinoma Predisposition Syndrome
|
Cutaneous Malignant Melanoma 8
|
|
Susceptibility To Melanoma And Renal Cell Carcinoma
|
Melanoma, Cutaneous, Malignant, Susceptibility To, Type 8
|
|
|
| Pigmentation Disease |
|
Pigmentation Disorders
|
Skin Pigmentation Disorder
|
|
|
| Chediak-Higashi Syndrome |
|
CHS
|
Chédiak-Higashi Syndrome
|
|
Chediak - Steinbrinck Anomaly
|
Chediak Higashi Syndrome
|
|
Chediak-Steinbrinck-Higashi Syndrome
|
Oculocutaneous Albinism With Leukocyte Defect
|
|
Chediak-Higashi Disease
|
Chediak-Higashi-Steinbrink Syndrome
|
|
|
| Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 |
|
Vitiligo
|
VAMAS1
|
|
Slev1
|
Vtlg
|
|
Systemic Lupus Erythematosus, Vitiligo-Related
|
Vitiligo-Associated Multiple Autoimmune Disease 1
|
|
Systemic Lupus Erythematosus Vitiligo-Related
|
|
|
| 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
|
|
|
| Eye Disease |
|
Eye Diseases
|
Abnormality Of The Eye
|
|
Toxoplasma Oculopathy
|
|
|
| Angiomyolipoma |
|
|
| Dowling-Degos Disease 1 |
|
Reticular Pigment Anomaly Of Flexures
|
DDD1
|
|
Ddd
|
Hyperpigmentation
|
|
Dowling-Degos Disease
|
|
|
| Hermansky-Pudlak Syndrome |
|
Hps
|
Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells
|
|
Hermanski-Pudlak Syndrome
|
Hermansky Pudlak Syndrome
|
|
Platelet Storage Pool Deficiency
|
|
|
| Vogt-Koyanagi-Harada Disease |
|
Uveomeningoencephalitic Syndrome
|
Uveomenigitic Syndrome
|
|
Vogt-Koyanagi-Harada Syndrome
|
Harada'S Disease
|
|
Vogt-Koyanagi Syndrome
|
Vkh Disease
|
|
Vkh Syndrome
|
Vkh
|
|
|
| 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
|
|
|
| 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
|
|
|
| Skin Carcinoma |
|
Skin Cancer
|
Carcinoma Of Skin
|
|
Ca - Skin Cancer
|
Cancer Of Skin
|
|
Malignant Neoplasm Of Skin
|
Melanoma And Non-Melanoma Skin Cancer
|
|
Skin Cancers
|
Cancer, Skin
|
|
|
| Melanoma In Congenital Melanocytic Nevus |
|
Malignant Melanoma In Congenital Melanocytic Nevus
|
Melanocytic Nevi
|
|
Nevi Melanocytic
|
|
|
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Homocystinuria With Or Without Response To Pyridoxine
|
Cystathionine Beta-Synthase Deficiency
|
|
Cbs Deficiency
|
Homocystinuria, B6-Responsive And Nonresponsive Types
|
|
Hyperhomocysteinemia, Thrombotic, Cbs-Related
|
Thrombosis, Hyperhomocysteinemic
|
|
Homocystinuria Due To Cbs Deficiency
|
Classic Homocystinuria
|
|
Homocystinuria Due To Cystathionine Beta-Synthase
|
CBSD
|
|
Hyperhomocysteinemia Thrombotic Cbs-Related
|
Cystathionine Beta-Synthase Deficiency Disease
|
|
|
| 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
|
|
|
| Diffuse Meningeal Melanocytosis |
|
Diffuse Melanocytosis
|
Diffuse Melanosis
|
|
|
| Acute Contagious Conjunctivitis |
|
Pink Eye
|
Contagious Opthalmia
|
|
Pinkeye
|
Conjunctivitis
|
|
Keratoconjunctivitis Due To Mycoplasma Conjunctivae
|
|
|
| Albinism, Oculocutaneous, Type Ii |
|
OCA2
|
Oculocutaneous Albinism Type 2
|
|
Oculocutaneous Albinism Type Ii
|
Albinoidism
|
|
Tyrosinase-Positive Oculocutaneous Albinism
|
Brown Oculocutaneous Albinism
|
|
Oculocutaneous Albinism, Tyrosinase-Positive
|
Albinism Ii
|
|
Albinism, Brown Oculocutaneous
|
Oculocutaneous Albinism, Type Ii, Modifier Of
|
|
Oculocutaneous Albinism, Type Ii
|
Albinism, Oculocutaneous, Type Ii, Modifier Of
|
|
Albinism 2
|
Albinism, Oculocutaneous, Type 2
|
|
Oculocutaneous Albinism Tyrosinase Positive
|
Oculocutaneous Albinism, Tyrosinase Positive
|
|
Albinism, Oculocutaneous, 2
|
Boca
|
|
Oca-2
|
Oculocutaneous Albinism Tyrosinase-Positive
|
|
|
| Albinism, Oculocutaneous, Type Iv |
|
OCA4
|
Oculocutaneous Albinism Type 4
|
|
Oculocutaneous Albinism, Type Iv
|
Oculocutaneous Albinism Type Iv
|
|
Albinism, Oculocutaneous, 4
|
|
|
| Melanoacanthoma |
|
|
| Malignant Spindle Cell Melanoma |
|
Spindle Cell Melanoma
|
Desmoplastic Melanoma
|
|
Spindle Cell Malignant Melanoma
|
Spitzoid Malignant Melanoma
|
|
|
| Melanoma, Uveal |
|
Uveal Melanoma
|
Choroidal Melanoma
|
|
Melanoma Of Uvea
|
Iris Melanoma
|
|
Malignant Melanoma Of Choroid
|
Malignant Melanoma Of Iris
|
|
|
| Ochronosis |
|
|
| Albinism, Oculocutaneous, Type Iii |
|
Rufous Oculocutaneous Albinism
|
Oculocutaneous Albinism Type 3
|
|
OCA3
|
Roca
|
|
Xanthism
|
Oculocutaneous Albinism Type Iii
|
|
Albinism Iii
|
Oculocutaneous Albinism, Type Iii
|
|
Albinism 3
|
Albinism, Oculocutaneous, Type 3
|
|
Rufous Oca
|
Red Oculocutaneous Albinism
|
|
Xanthous Oculocutaneous Albinism
|
Albinism, Oculocutaneous, 3
|
|
Oca-Iii
|
|
|
| Acute Conjunctivitis |
|
|
| Neurofibroma |
|
Neurofibromas
|
Neurofibromatoses
|
|
Nerve Sheath Tumors
|
|
|
| Lymphangioleiomyomatosis |
|
Lymphangiomyomatosis
|
LAM
|
|
Lung Lymphangioleiomyomatosis
|
Pulmonary Lymphangioleiomyomatosis
|
|
Lymphangioleiomyomatosis, Somatic
|
Lymphangio-Myomatosis
|
|
|
| Lentigines |
|
|
| Homocystinuria |
|
Cystathionine Beta Synthase Deficiency
|
Homocysteinemia
|
|
Cbs Deficiency
|
Cystathionine Synthase Deficiency
|
|
Cystathionine Beta-Synthase Deficiency Disease
|
|
|
| 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
|
|
|
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic Aciduria And Homocystinuria Type Cblf
|
MAHCF
|
|
Methylmalonic Aciduria Due To Vitamin B12-Release Defect
|
Vitamin B12 Lysosomal Release Defect
|
|
Cobalamin F Disease
|
Cblf
|
|
Methylmalonic Acidemia And Homocystinuria, Cblf Type
|
Cobalamin, Defect In Lysosomal Release Of
|
|
Vitamin B12 Storage Disease
|
Cobalamin F Deficiency
|
|
Methylmalonic Acidemia With Homocystinuria Type Cblf
|
Cblf Defect
|
|
Cobalamin F Defect
|
Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cblf
|
|
Lysosomal Membrane Cobalamin Transporter Deficiency
|
Methylmalonic Aciduria With Homocystinuria, Type Cblf
|
|
Methylcobalamin Deficiency Tape F
|
Methylmalonic Acidemia And Homocystinuria Cblf Type
|
|
Vitamin B12 Storage Defect
|
Aciduria, Methylmalonic, And Homocystinuria, Cblf Type
|
|
|
| Malignant Ciliary Body Melanoma |
|
Malignant Melanoma Of Ciliary Body
|
Melanoma Of The Ciliary Body
|
|
|
| Ciliary Body Cancer |
|
Malignant Neoplasm Of Ciliary Body
|
Malignant Tumor Of Ciliary Body
|
|
Malignant Tumor Of The Ciliary Body
|
Neoplasm Of Ciliary Body
|
|
Tumor Of The Ciliary Body
|
Primary Malignant Neoplasm Of Ciliary Body
|
|
Malignant Neoplasm Of Eyeball
|
Malignant Neoplasm Of Uveal Tract
|
|
Primary Malignant Neoplasm Of Sclera
|
Primary Malignant Neoplasm Of Uveal Tract
|
|
|
| Hypopigmentation Of Eyelid |
|
|
| Melanoma |
|
Malignant Melanoma
|
Cutaneous Melanoma
|
|
Naevocarcinoma
|
Malignant Melanomas
|
|
|
| Nodular Malignant Melanoma |
|
|
| Skin Melanoma |
|
Cutaneous Melanoma
|
Malignant Ear Melanoma
|
|
Malignant Lip Melanoma
|
Malignant Lower Limb Melanoma
|
|
Malignant Melanoma Of Ear And/Or External Auricular Canal
|
Malignant Melanoma Of Skin Of Lower Limb
|
|
Malignant Melanoma Of Skin Of Trunk Except Scrotum
|
Malignant Melanoma Of Skin Of Upper Limb
|
|
Malignant Neck Melanoma
|
Malignant Scalp Melanoma
|
|
Malignant Trunk Melanoma
|
Malignant Upper Limb Melanoma
|
|
Melanoma, Cutaneous Malignant
|
Melanoma
|
|
Malignant Melanoma Of Skin
|
Melanoma Nos
|
|
Malignant Mole, Meaning Melanoma Of Unspecified Site
|
Melanoma Of Unspecified Site
|
|
Cutaneous Malignant Melanoma
|
Mm - [Malignant Melanoma]
|
|
|
| Epithelioid Cell Melanoma |
|
|
| Mucosal Melanoma |
|
|
| Piebald Trait |
|
Piebaldism
|
PBT
|
|
Partial Albinism
|
Albinoidism, Oculocutaneous, Autosomal Dominant
|
|
|
| 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
|
|
|
| Chronic Endophthalmitis |
|
|
| Acral Lentiginous Melanoma |
|
Acral Lentiginous Melanoma, Malignant
|
Malignant Acral Lentiginous Melanoma
|
|
Alm
|
Acral Lentiginous Malignant Melanoma Of Skin
|
|
Palmar/Plantar Melanoma
|
Subungual Melanoma
|
|
Acral Lentiginous Malignant Melanoma
|
|
|
| Central Nervous System Melanocytic Neoplasm |
|
Primary Melanocytic Lesion Of Meninges
|
Central Nervous System Primary Melanocytic Lesion
|
|
Melanocytic Tumor Of The Cns
|
Primary Melanocytic Lesions Of The Cns
|
|
|
| Alkaptonuria |
|
Homogentisic Acid Oxidase Deficiency
|
Alcaptonuria
|
|
AKU
|
Deficiency Of Homogentisicase
|
|
Homogentisate 1,2-Dioxygenase Deficiency
|
Alkaptonuric Ochronosis
|
|
Homogentisic Acidura
|
Ochronosis, Hereditary
|
|
Hereditary Ochronosis
|
Ochronosis
|
|
Homogentisicaciduria
|
Deficiency Of Homogentisate Oxygenase
|
|
|
| Atypical Teratoid Rhabdoid Tumor |
|
Rhabdoid Tumor Predisposition Syndrome
|
Rtps
|
|
Atypical Teratoid/Rhabdoid Tumor
|
Rhabdoid Predisposition Syndrome
|
|
Familial Posterior Fossa Brain Tumor Of Infancy
|
Familial Rhabdoid Tumor
|
|
At/Rt
|
Atypical Teratoid Rhabdoid Tumour
|
|
Atypical Teratoid/Rhabdoid Tumour
|
Rhabdoid Tumor Of The Cns
|
|
Rhabdoid Tumour Of The Cns
|
Familial Posterior Fossa Brain Tumor Syndrome
|
|
Hereditary Swi/Snf Deficiency Syndrome
|
Atrt
|
|
|
| Gallbladder Melanoma |
|
Malignant Melanoma Of Gallbladder
|
|
|
| Keratosis, Seborrheic |
|
Seborrheic Keratosis
|
Keratosis, Seborrheic, Somatic
|
|
Basal Cell Papilloma
|
Keratosis Seborrheica
|
|
KERSEB
|
|
|
| Tyrosinemia, Type Iii |
|
Tyrosinemia Type Iii
|
4-Hydroxyphenylpyruvate Dioxygenase Deficiency
|
|
TYRSN3
|
4-Hydroxyphenylpyruvic Acid Oxidase Deficiency
|
|
Tyrosinemia Type 3
|
4-Alpha Hydroxyphenylpyruvate Dioxygenase Deficiency
|
|
4-Alpha Hydroxyphenylpyruvic Acid Oxidase Deficiency
|
Tyrosinemia Due To 4-Hydroxyphenylpyruvate Dioxygenase Deficiency
|
|
Tyrosinemia Due To 4-Hydroxyphenylpyruvic Acid Oxidase Deficiency
|
Tyrosinemia Due To Hpd Deficiency
|
|
Tyrosinemia 3
|
|
|
| Meningeal Melanomatosis |
|
Leptomeningeal Melanomatosis
|
|
|
| Gilles De La Tourette Syndrome |
|
Tourette Syndrome
|
Tourette Disorder
|
|
GTS
|
Ts
|
|
Gilles De La Tourette'S Syndrome
|
Motor-Verbal Tic Disorder
|
|
Guinon'S Disease
|
Psychogenic Tics
|
|
Tourette'S Syndrome
|
Chronic Motor And Vocal Tic Disorder
|
|
Td
|
Tourette'S Disease
|
|
Combined Vocal And Multiple Motor Tic Disorder [De La Tourette]
|
Combined Vocal And Multiple Motor Tic Disorder
|
|
Tic De La Tourette
|
|
|
| Skin Benign Neoplasm |
|
Neoplasm Of Skin By Site
|
Tumor Of The Skin
|
|
Skin Tumor
|
Benign Neoplasm Of Skin
|
|
Skin Neoplasms
|
|
|
| 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
|
|
|
| Metagonimiasis |
|
Trematode Infections
|
Infection By Metagonimus Yokogawai
|
|
Metagonimus Yokogawai Infection
|
|
|
| Sympathetic Ophthalmia |
|
Sympathetic Uveitis
|
Ophthalmia, Sympathetic
|
|
Sympathetic Iridocyclitis
|
Sympathetic Endophthalmitis
|
|
|
| Menkes Disease |
|
Copper Transport Disease
|
Menkes Syndrome
|
|
MNK
|
Kinky Hair Disease
|
|
Steely Hair Disease
|
Menkes Kinky-Hair Syndrome
|
|
Mk
|
Steely Hair Syndrome
|
|
Menkea Syndrome
|
Md
|
|
Menkes Kinky Hair Syndrome
|
Hypocupremia, Congenital
|
|
Kinky Hair Syndrome
|
X-Linked Copper Deficiency
|
|
Menkes Kinky Hair Disease
|
|
|
| Neurilemmoma |
|
Schwannoma
|
Benign Schwannoma
|
|
Neurilemoma
|
Peripheral Fibroblastoma
|
|
Psammomatous Schwannoma
|
Neurolemmoma
|
|
Schwannomas
|
|
|
| Tyrosinemia, Type I |
|
Tyrosinemia Type I
|
Hepatorenal Tyrosinemia
|
|
Fumarylacetoacetase Deficiency
|
Fah Deficiency
|
|
TYRSN1
|
Fumarylacetoacetate Hydrolase Deficiency
|
|
Tyrosinemia Type 1
|
Tyrosinemia 1
|
|
Fumarylacetoacetase
|
|
|
| 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
|
|
|
| Acanthoma |
|
|
| Angelman Syndrome |
|
AS
|
Happy Puppet Syndrome
|
|
Happy Puppet Syndrome, Formerly
|
Puppetlike Syndrome
|
|
|
| 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
|
|
|
| Sarcomatoid Transitional Cell Carcinoma |
|
Transitional Cell Carcinoma, Sarcomatoid
|
Transitional Spindle Cell Carcinoma
|
|
Transitional Cell Carcinoma, Spindle Cell
|
|
|
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
HHF1
|
Persistent Hyperinsulinemic Hypoglycemia Of Infancy
|
|
Familial Hyperinsulinemic Hypoglycemia 1
|
Congenital Hyperinsulinism
|
|
Phhi
|
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
|
|
Hypoglycemia, Hyperinsulinemic, Of Infancy
|
Hyperinsulinemic Hypoglycemia Due To Focal Adenomatous Hyperplasia
|
|
Nesidioblastosis Of Pancreas
|
Hyperinsulinism, Familial, With Pancreatic Nesidioblastosis
|
|
Hyperinsulinism, Congenital
|
Autosomal Dominant Hyperinsulinemic Hypoglycemia Due To Sur1 Deficiency
|
|
Diazoxide-Resistant Focal Hyperinsulinism Due To Sur1 Deficiency
|
Hyperinsulinemic Hypoglycemia Due To Sur1 Deficiency, Diazoxide-Resistant Focal Form
|
|
Autosomal Recessive Hyperinsulinism Due To Sur1 Deficiency
|
Autosomal Recessive Hyperinsulinemic Hypoglycemia Due To Sur1 Deficiency
|
|
Hypoglycemia, Hyperinsulinemic, Familial, Type 1
|
|
|
| Uterus Perivascular Epithelioid Cell Tumor |
|
|
| Tyrosinemia |
|
Hypertyrosinemia
|
Tyrosinemias
|
|
Hereditary Tyrosinemia
|
Hypertyrosinaemia
|
|
Tyrosinaemia
|
Hereditary Hypertyrosinemia
|
|
|
| Ocular Melanoma |
|
Intraocular Melanoma
|
Uveal Melanoma
|
|
Eye Melanoma
|
Melanoma Of Eye
|
|
Melanoma Of The Uvea
|
Malignant Melanoma Of Eye
|
|
|
| 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
|
|
|
| Developmental And Epileptic Encephalopathy 60 |
|
DEE60
|
Epileptic Encephalopathy, Early Infantile, 60
|
|
Eiee60
|
Developmental And Epileptic Encephalopathy, 60
|
|
Early Infantile Epileptic Encephalopathy 60
|
|
|
| Spinal Cord Melanoma |
|
Melanoma Of The Spinal Cord
|
|
|
| Advanced Sleep Phase Syndrome, Familial, 3 |
|
Advanced Sleep Phase Syndrome 3
|
FASPS3
|
|
Familial Advanced Sleep Phase Syndrome 3
|
Sleep Phase Syndrome, Advanced, Familial, Type 3
|
|
|
| Autoimmune Disease Of Skin And Connective Tissue |
|
|
| Cervix Melanoma |
|
|
| Uveal Disease |
|
|
| Nystagmus 3, Congenital, Autosomal Dominant |
|
NYS3
|
Congenital Nystagmus 3
|
|
Autosomal Dominant Congenital Nystagmus 3
|
|
|
| Integumentary System Disease |
|
|
| Testicular Cancer |
|
Testis Cancer
|
Testicular Carcinoma
|
|
Testicular Neoplasms
|
Malignant Neoplasm Of Testis
|
|
Childhood Neoplasm Of The Testis
|
Neoplasm Of Testis
|
|
Pediatric Testicular Neoplasm
|
Testicular Tumor
|
|
Testis Neoplasm
|
Testicular Tumors
|
|
Testicular Neoplasm
|
Testicular Malignant Germ Cell Tumor
|
|
Childhood Testicular Neoplasm
|
Carcinoma Of The Testis
|
|
Cancer Of Testis
|
Malignant Neoplasm Of Testis, Nos
|
|
Malignant Neoplasm Of Testis, Unspecified
|
Malignant Tumour Of Testis
|
|
Testicle Cancer
|
Primary Malignant Neoplasm Of Testis
|
|
|
| Orbit Rhabdomyosarcoma |
|
Rhabdomyosarcoma Of The Orbit
|
Rhabdomyosarcoma Of Orbit
|
|
|
| Cataract |
|
Cataracts
|
Cat - [Cataract]
|
|
Cataract Form
|
Lens Opacity
|
|
Lens Opacities
|
|
|
| Basal Cell Carcinoma |
|
Basal Cell Cancer
|
Basal Cell Neoplasm
|
|
Basal Cell Carcinoma Of Skin
|
Malignant Basal Cell Tumor
|
|
Basal Cell Tumor
|
Epithelioma Basal Cell
|
|
Malignant Basal Cell Neoplasm
|
Rodent Ulcer
|
|
Carcinoma Basal Cell
|
Neoplasms, Basal Cell
|
|
Basal Cell Carcinomas
|
Experimental Organism Basal Cell Carcinoma
|
|
Nodulo-Ulcerative Basal Cell Carcinoma
|
Basalioma
|
|
Basal Cell Epithelioma Of Skin
|
Bcc - [Basal Cell Carcinoma] Of Skin
|
|
Rodent Ulcer Of Skin
|
Rodent Ulcer Of Unspecified Site
|
|
Basal Cell Epithelioma Of Unspecified Site
|
|
|
| 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
|
|
|
| Developmental And Epileptic Encephalopathy 11 |
|
Epileptic Encephalopathy, Early Infantile, 11
|
DEE11
|
|
Eiee11
|
Developmental And Epileptic Encephalopathy, 11
|
|
Early Infantile Epileptic Encephalopathy 11
|
Encephalopathy, Developmental And Epileptic, Type 11
|
|
|
| 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
|
|
|
| Alzheimer Disease, Familial, 1 |
|
Alzheimer Disease
|
Alzheimer'S Disease
|
|
Presenile And Senile Dementia
|
AD1
|
|
Alzheimer Disease, Susceptibility To
|
Alzheimer Disease, Late-Onset, Susceptibility To
|
|
Alzheimer Disease 1, Familial
|
AD
|
|
Familial Alzheimer Disease
|
Alzheimer Disease, Late-Onset
|
|
Alzheimers Dementia
|
Alzheimer Dementia
|
|
Alzheimer Sclerosis
|
Alzheimer Syndrome
|
|
Alzheimer-Type Dementia
|
Dat
|
|
Primary Senile Degenerative Dementia
|
Sdat
|
|
Alzheimer Disease 1
|
Autosomal Dominant Alzheimer Disease
|
|
Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy
|
Late Onset Alzheimer Disease
|
|
Alzheimers Disease
|
Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy
|
|
Late-Onset Alzheimers Disease
|
Alzheimer'S Disease Pathway Kegg
|
|
Dementia Due To Alzheimer'S Disease
|
Alzheimer Disease Type 1
|
|
Alzheimers
|
|
|
| Nervous System Disease |
|
Abnormality Of The Nervous System
|
Nervous System Diseases
|
|
Nervous System Disorder
|
|
|
| Fundus Dystrophy |
|
Retinal Dystrophy
|
Retinal Dystrophies
|
|
Dystrophy, Retinal
|
|
|
| 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
|
|
|
