| Diseases |
Alias |
|
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Collodion Fetus
|
Autosomal Recessive Congenital Ichthyosis 1
|
|
ARCI1
|
Ichthyosis Congenita
|
|
Lamellar Exfoliation Of Newborn
|
Desquamation Of Newborn
|
|
Ichthyosis Congenita Ii
|
Shcb
|
|
Icr2
|
Bathing Suit Ichthyosis
|
|
Li1
|
Self-Healing Collodion Baby
|
|
Ichthyosis, Congenital, Autosomal Recessive 1, With Bathing Suit Distribution
|
Collodion Baby, Self-Healing
|
|
Ichthyosis, Lamellar, 1, Formerly
|
Li1, Formerly
|
|
Ichthyosis Lamellar 1
|
Lamellar Ichthyosis, Type 1
|
|
Bsi
|
Autosomal Recessive Congenital Ichthyosis 1 With Bathing Suit Distribution
|
|
Autosomal Recessive Congenital Ichthyosis Tgm1-Related
|
Lamellar Ichthyosis 1
|
|
Non-Erythrodermic Ichthyosis
|
Ichthyosis, Congenital, Autosomal Recessive, Type 1
|
|
Congenital Ichthyosis
|
|
|
| Autosomal Recessive Congenital Ichthyosis |
|
Lamellar Ichthyosis
|
Congenital Ichthyosiform Erythroderma
|
|
Li
|
Congenital Nonbullous Ichthyosiform Erythroderma
|
|
Arci
|
Congenital Lamellar Ichthyosis
|
|
Nonbullous Congenital Ichthyosiform Erythroderma
|
Cie
|
|
Congenital Non-Bullous Ichthyosiform Erythroderma
|
Erythrodermic Ichthyosis
|
|
Nbcie
|
Ncie
|
|
Non-Bullous Congenital Ichthyosiform Erythroderma
|
Collodion Baby
|
|
Ichthyosis, Lamellar
|
Non Bullous Congenital Ichthyosiform Erythroderma
|
|
Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form
|
Ichthyosiform Erythroderma, Congenital, Nonbullous, 1
|
|
Collodion Baby Syndrome
|
Ichthyoses, Lamellar
|
|
Nbie
|
Nonbullous Ichthyosiform Erythroderma
|
|
Classic Lamellar Ichthyosis
|
Ichthyosiform Erythroderma Nonbullous Congenital
|
|
Ichthyosiform Erythroderma Congenital
|
Ichthyosis, Congenital, Autosomal Recessive
|
|
Ichthyosiform Erythroderma, Congenital
|
Collodion Fetus
|
|
Non-Bullous Ichthyosiform Erythroderma
|
|
|
| Ichthyosis |
|
Ichthyoses
|
Non-Syndromic Ichthyosis
|
|
Congenital Ichthyosis
|
|
|
| Acral Self-Healing Collodion Baby |
|
|
| Skin Disease |
|
Skin Diseases
|
Genodermatosis
|
|
Abnormality Of The Skin
|
Skin Diseases, Genetic
|
|
Skin And Subcutaneous Tissue Disease
|
Dermatologic Disorders
|
|
|
| Self-Improving Collodion Baby |
|
Self-Healing Collodion Baby
|
Shcb
|
|
Sici
|
Self-Improving Congenital Ichthyosis
|
|
|
| Ectropion |
|
Ectropion Of Eyelid
|
Everted Margin
|
|
Eversion Of The Eyelid
|
Eyelashes Turned Out
|
|
Eyelid Everted
|
Eyelid Turned Out
|
|
Unspecified Ectropion Of Unspecified Eye
|
|
|
| Netherton Syndrome |
|
NETH
|
Ns
|
|
Netherton Disease
|
Comel-Netherton Syndrome
|
|
Erythroderma, Ichthyosiform, With Hypotrichosis And Hyper-Ige
|
Bamboo Hair Syndrome
|
|
Ichthyosis Linearis Circumflexa
|
Ichthyosiform Erythroderma With Hypotrichosis And Hyper-Ige
|
|
Ilc
|
Nts
|
|
N Syndrome
|
|
|
| Ichthyosis, Congenital, Autosomal Recessive 4b |
|
Harlequin Ichthyosis
|
Autosomal Recessive Congenital Ichthyosis 4b
|
|
Hi
|
Harlequin Fetus
|
|
ARCI4B
|
Ichthyosis Congenita, Harlequin Fetus Type
|
|
Harlequin Type Ichthyosis
|
'Harlequin Fetus'
|
|
Harlequin Type Ichthyosis Congenita
|
Harlequin Type Ichthyosis Fetalis
|
|
Harlequin Baby Syndrome
|
Ichthyosis Congenita, Harlequin Type
|
|
Ichthyosis Fetalis, Harlequin Type
|
Ichthyosis Congenita Harlequin Fetus Type
|
|
Ichthyosis, Harlequin
|
Ichthyosis, Congenital, Autosomal Recessive, Type 4b
|
|
|
| Ichthyosis, X-Linked |
|
X-Linked Ichthyosis
|
Steroid Sulfatase Deficiency
|
|
Placental Steroid Sulfatase Deficiency
|
Steroid Sulfatase Deficiency Disease
|
|
XLI
|
Sts Deficiency
|
|
Ssdd
|
X-Linked Recessive Ichthyosis
|
|
X-Linked Ichthyosis With Steryl-Sulphatase Deficiency
|
X-Linked Placental Steryl-Sulphatase Deficiency
|
|
Ssd
|
X Linked Ichthyosis
|
|
Recessive X-Linked Ichthyosis
|
Rxli
|
|
Syndromic Recessive X-Linked Ichthyosis
|
Recessive X-Linked Ichthyosis With Extracutaneous Manifestations
|
|
Syndromic Rxli
|
X-Linked Ichthyosis Syndrome
|
|
IXL
|
Ichthyosis X-Linked
|
|
Sex-Linked Ichthyosis
|
X-Linked Ichthyosis With Steryl-Sulfatase Deficiency
|
|
|
| Balanitis Xerotica Obliterans |
|
Penile Lichen Sclerosus
|
Penile Leukoplakia
|
|
|
| Vohwinkel Syndrome |
|
Mutilating Keratoderma
|
Keratoderma Hereditarium Mutilans
|
|
Khm
|
VOWNKL
|
|
Deafness, Congenital, With Keratopachydermia And Constrictions Of Fingers And Toes
|
Mutilating Keratoderma Of Vohwinkel
|
|
Mutilating Keratoderma Plus Deafness
|
Ppk Mutilans And Deafness
|
|
Congenital Deafness With Keratopachydermia And Constrictions Of Fingers And Toes
|
Congenital Deafness With Keratopachydermia And Constrictions Fo Fingers And Toes
|
|
Palmoplantar Keratoderma Mutilans
|
Palmoplantar Keratoderma Mutilans Vohwinkel
|
|
Ppk Mutilans Vohwinkel
|
Mutilating Keratoderma Plus Hearing Loss
|
|
Ppk Mutilans And Hearing Loss
|
|
|
| Elastosis Perforans Serpiginosa |
|
EPS
|
Elastoma Intrapapillare Perforans Verruciformis
|
|
Miescher Elastoma
|
|
|
| Cicatricial Ectropion |
|
|
| Balanitis |
|
|
| Syphilitic Encephalitis |
|
|
| Severe Cutaneous Adverse Reaction |
|
Stevens-Johnson Syndrome
|
Toxic Epidermal Necrolysis
|
|
Drug-Induced Stevens Johnson Syndrome
|
Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum
|
|
Susceptibility To Severe Cutaneous Adverse Reaction
|
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis
|
|
Lyell'S Syndrome
|
Lyell Syndrome
|
|
Severe Cutaneous Adverse Reaction, Susceptibility To
|
Hypersensitivity Syndrome, Carbamazepine-Induced, Susceptibility To
|
|
Hypersensitivity Syndrome, Carbamazepine-Induced
|
Stevens-Johnson Syndrome, Susceptibility To
|
|
Toxic Epidermal Necrolysis, Susceptibility To
|
Sjs/Ten
|
|
Susceptibility To Severe Cutaneous Adverse Reaction Ity To
|
Mycoplasma-Induced Stevens Johnson Syndrome
|
|
Dermatostomatitis, Stevens Johnson Type
|
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
|
|
Sjs-Ten
|
Toxic Epidermolysis
|
|
SJS
|
Dermatostomatitis Stevens Johnson Type
|
|
Ten
|
Sjs/Ten - [Stevens-Johnson Syndrome And Toxic Epidermal Necrolysis]
|
|
Ten - [Toxic Epidermal Necrolysis]
|
|
|
| Keratosis |
|
Actinic Keratosis
|
Hyperkeratosis
|
|
|
| Ichthyosis, Congenital, Autosomal Recessive 4a |
|
Ichthyosis Congenita Iib
|
Icr2b
|
|
Autosomal Recessive Congenital Ichthyosis 4a
|
ARCI4A
|
|
Lamellar Ichthyosis 2
|
Li2
|
|
Ichthyosis, Lamellar, 2, Formerly
|
Li2, Formerly
|
|
Ichthyosis Lamellar 2
|
Lamellar Ichthyosis, Type 2
|
|
Ichthyosis, Lamellar 2
|
Ichthyosis, Congenital, Autosomal Recessive, Type 4a
|
|
|
| Eyelid Disease |
|
Eyelid Diseases
|
Eyelid Disorders
|
|
|
| Epidermolytic Hyperkeratosis |
|
Bullous Congenital Ichthyosiform Erythroderma
|
Bullous Ichthyosiform Erythroderma
|
|
EHK
|
Bullous Erythroderma Ichthyosiformis Congenita Of Brocq
|
|
Bcie
|
Bie
|
|
Epidermolytic Ichthyosis
|
Ichthyosis Bullosa Of Siemens
|
|
Superficial Epidermolytic Ichthyosis
|
Hyperkeratosis, Epidermolytic
|
|
Congenital Bullous Ichthyosiform Erythroderma
|
Bullous Type Ichthyosis
|
|
Epidermolytic Palmoplantar Hyperkeratosis
|
Bullous Ichthyosiform Erythroderma Congenita
|
|
Bullous Erythroderma Ichthyosiforme
|
Sei
|
|
Epidermolytic Hyperkeratosis Late-Onset
|
Epidermolytic Hyperkeratosis, Late-Onset
|
|
|
| Dermatitis Herpetiformis |
|
Duhring'S Disease
|
Duhring-Brocq Disease
|
|
Dermatosis Herpetiformis
|
Brocq-Duhring Disease
|
|
Dh
|
Duhring Brocq Disease
|
|
Dh - [Dermatitis Herpetiformis]
|
|
|
| Lipoma Of Colon |
|
Colonic Lipoma
|
Colon Lipoma
|
|
|
| Large Intestine Lipoma |
|
Lipoma Of Large Intestine
|
Colorectal Lipoma
|
|
|
| Congenital Hypothyroidism |
|
Cretinism
|
Neonatal Hypothyroidism
|
|
Ch
|
Cht
|
|
Congenital Myxedema
|
Myxedema, Congenital
|
|
Endemic Cretinism
|
Congenital Iodine-Deficiency Syndrome
|
|
Fetal Iodine Deficiency Syndrome
|
Congenital Iodine-Deficiency Hypothyroidism Nos
|
|
|
| Peeling Skin Syndrome |
|
Deciduous Skin
|
Familial Continuous Skin Peeling Syndrome
|
|
Idiopathic Deciduous Skin
|
Keratosis Exfoliativa Congenita
|
|
Pss
|
Peeling Skin Disease
|
|
Skin Peeling Syndrome
|
Familial Continuous Skin Peeling
|
|
Keratolysis Exfoliativa Congenita
|
Exfoliation Syndrome
|
|
Keratolysis Exfoliativa
|
|
|
| Trichothiodystrophy 1, Photosensitive |
|
TTD1
|
Tay Syndrome
|
|
Trichothiodystrophy With Congenital Ichthyosis
|
Photosensitive Trichothiodystrophy
|
|
Ibids Syndrome
|
Ttdp
|
|
Ichthyosiform Erythroderma With Hair Abnormality And Mental And Growth Retardation
|
Ichthyosis, Congenital, With Trichothiodystrophy
|
|
Pibids Syndrome
|
Photosensitive Trichothiodystrophy 1
|
|
Trichothiodystrophy, Photosensitive
|
Sulfur-Deficient Brittle Hair Syndrome
|
|
Ttd-P
|
Ichthyosis With Brittle Hair, Intellectual Impairment, Decreased Fertility And Short Stature
|
|
Trichothiodystrophy Photosensitive
|
Trichothiodystrophy, Type 1
|
|
Tricho-Thiodystrophy Disorder
|
Trichothiodystrophy Syndromes
|
|
Amish Brittle Hair Brain Syndrome
|
|
|
| Psoriasis |
|
|
| Ichthyosis Vulgaris |
|
Ichthyosis Simplex
|
Dominant Congenital Ichthyosiform Erythroderma
|
|
Common Ichthyosis
|
Fish Scale Disease
|
|
VI
|
Ichthyoses
|
|
Congenital Ichthyosis
|
|
|
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Kid Syndrome
|
Keratitis-Ichthyosis-Deafness Syndrome
|
|
Senter Syndrome
|
KIDAD
|
|
Kid Syndrome, Autosomal Dominant
|
Autosomal Dominant Keratitis-Ichthyosis-Deafness Syndrome
|
|
Ichthyosis Hystrix Rheydt Type
|
Kid/Hid Syndrome
|
|
Keratitis-Ichthyosis-Deafness/Hystrix-Like Ichthyosis-Deafness Syndrome
|
Keratitis Ichthyosis And Deafness Syndrome
|
|
Autosomal Dominant Kid Syndrome
|
Keratitis, Ichthyosis, And Deafness Syndrome
|
|
Ichthyosiform Erythroderma, Corneal Involvement, And Deafness
|
Keratitis, Ichthyosis, And Deafness
|
|
Keratitis-Ichthyosis-Hearing Loss/Hystrix-Like Ichthyosis-Hearing Loss Syndrome
|
|
|
| X-Linked Chondrodysplasia Punctata 2 |
|
Happle Syndrome
|
Cdpx2
|
|
Conradi-Hünermann Syndrome
|
Chondrodysplasia Punctata 2, X-Linked
|
|
X-Linked Dominant Chondrodysplasia Punctata
|
Conradi-Hunermann Syndrome
|
|
Conradi-Hünermann-Happle Syndrome
|
Cdpxd
|
|
Cpxd
|
Chondrodystrophia Calcificans Congenita
|
|
Conradi-Hunermann-Happle Syndrome
|
X-Linked Chondrodysplasia Punctata Type 2
|
|
Chondrodysplasia Punctata, X-Linked Dominant Type
|
|
|
| Ichthyosis, Congenital, Autosomal Recessive 7 |
|
ARCI7
|
Autosomal Recessive Congenital Ichthyosis 7
|
|
|
| Spastic Paraplegia 17, Autosomal Dominant |
|
Silver Syndrome
|
SPG17
|
|
Silver Spastic Paraplegia Syndrome
|
Spastic Paraplegia With Amyotrophy Of Hands And Feet
|
|
Hereditary Spastic Paraplegia 17
|
Autosomal Dominant Spastic Paraplegia Type 17
|
|
Spastic Paraplegia 17
|
Spastic Paraplegia-Amyotrophy Of Hands And Feet
|
|
Autosomal Dominant Spastic Paraplegia 17
|
Dhmn5b
|
|
Distal Hereditary Motor Neuropathy Type 5b
|
Paraplegia, Spastic, Autosomal Dominant, Type 17
|
|
Russell-Silver Syndrome
|
Neuronopathy, Distal Hereditary Motor, Type Vb
|
|
|
| Holocarboxylase Synthetase Deficiency |
|
HLCS DEFICIENCY
|
Early-Onset Multiple Carboxylase Deficiency
|
|
Biotin- Ligase Deficiency
|
Neonatal Multiple Carboxylase Deficiency
|
|
Multiple Carboxylase Deficiency, Neonatal Form
|
Multiple Carboxylase Deficiency, Early Onset
|
|
Multiple Carboxylase Deficiency - Neonatal Onset
|
Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency
|
|
Early-Onset Combined Carboxylase Deficiency
|
Infantile Multiple Carboxylase Deficiency
|
|
Biotin-Responsive Mcd
|
Biotin-Responsive Multiple Carboxylase Deficiency
|
|
Early-Onset Mcd
|
Mcd Neonatal Form
|
|
|
| Silver-Russell Syndrome 1 |
|
Silver-Russell Syndrome
|
Russell-Silver Syndrome
|
|
Silver-Russell Dwarfism
|
Rss
|
|
SRS1
|
Srs
|
|
Silver Russell Dwarfism
|
Russell Silver Syndrome
|
|
Silver Russell Syndrome
|
|
|
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans
|
KFSD
|
|
|
| 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
|
|
|
| Fraser Syndrome 1 |
|
Fraser Syndrome
|
Cryptophthalmos With Other Malformations
|
|
Cryptophthalmos Syndrome
|
FRASRS1
|
|
Cryptophthalmos-Syndactyly Syndrome
|
Fraser-Francois Syndrome
|
|
Cyclopism
|
Meyer-Schwickerath'S Syndrome
|
|
Ulrich-Feichtiger Syndrome
|
Cryptophthalmos Syndactyly Syndrome
|
|
Fraser'S Syndrome
|
Meyer-Schwickerath Syndrome
|
|
Ullrich-Feichtiger Syndrome
|
|
|
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Image Syndrome
|
IMAGE
|
|
Intrauterine Growth Retardation-Metaphyseal Dysplasia-Adrenal Hypoplasia Congenita-Genital Anomalies Syndrome
|
Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
|
|
Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Abnormalities
|
Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies
|
|
Image Anomaly
|
Image Association
|
|
Fetal Growth Retardation
|
Pyle Metaphyseal Dysplasia
|
|
|
| Omphalocele |
|
Omphalocoele
|
Congenital Omphalocele
|
|
Exomphalos
|
Exumbilication
|
|
|
| Pachyonychia Congenita 1 |
|
Pachyonychia Congenita
|
Jadassohn-Lewandowsky Syndrome
|
|
Pachyonychia Congenita Syndrome
|
PC1
|
|
Pachyonychia Congenita, Jadassohn-Lewandowsky Type
|
Congenital Pachyonychia
|
|
Pachyonychia Congenita, Type 1
|
Pachyonychia Congenita, Jadassohn-Lewandowsky Type, Formerly
|
|
Jadassohn-Lewandowsky Syndrome, Formerly
|
Jackson-Lawler Type Pachyonychia Congenita
|
|
Pachyonychia Congenita Type 1
|
Jackson-Lawler Syndrome
|
|
Jadassohn-Lewandowski Syndrome
|
Pc
|
|
Pachyonychia Congenita Jackson-Lawler Type
|
Pachyonychia Congenita Jadassohn-Lewandowsky Type
|
|
Pachyonychia Congenita Jackson Lawler Type
|
Pc-1
|
|
Pachyonychia Congenita, Jadassohn Lewandowsky Type
|
Pachyonychia Congenita, Type 2
|
|
|
| Beckwith-Wiedemann Syndrome |
|
Wiedemann-Beckwith Syndrome
|
BWS
|
|
Exomphalos-Macroglossia-Gigantism Syndrome
|
Emg Syndrome
|
|
Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation
|
Emg Abnormality
|
|
Wbs
|
Exomphalos Macroglossia Gigantism Syndrome
|
|
Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation
|
Macroglossia Exomphalos Gigantism
|
|
|
| Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Erythrokeratodermia Variabilis
|
Erythrokeratodermia Variabilis Et Progressiva
|
|
Greither Disease
|
Ekv
|
|
Ekvp
|
PSEK
|
|
Erythrokeratodermia Variabilis With Erythema Gyratum Repens
|
Keratosis Palmoplantaris Transgrediens Et Progrediens
|
|
Transgrediens Et Progrediens Palmoplantar Keratoderma
|
EKVP1
|
|
Erythrokeratodermia, Progressive Symmetric
|
Erythrokeratodermia Figurata, Congenital Familial, In Plaques
|
|
Keratoderma Palmoplantaris Transgrediens
|
Keratosis Extremitatum Hereditaria Progrediens
|
|
Erythrokeratodermia Variabilis, Mendes Da Costa Type
|
Progressive Symmetric Erythrokeratodermia
|
|
Erythrokeratodermia Figurata Variabilis
|
Greither'S Disease
|
|
Ekv-P
|
Erythrokeratodermia Variabilis Of Mendes Da Costa
|
|
Progressive Symmetrical Erythrokeratoderma Of Gottron
|
Progressive Diffuse Ppk
|
|
Progressive Diffuse Palmoplantar Keratoderma
|
Transgrediens Et Progrediens Ppk
|
|
Darier-Gottron Disease
|
Erythrokeratodermia Progressiva Symmetrica
|
|
Progressive Symmetric Erythrokeratodermia, Gottron Type
|
Congenital Familial Erythrokeratodermia Figurata In Plaques
|
|
Erythrokeratodermia Progressive Symmetric
|
Erythrokeratodermia Variabilis Mendes Da Costa Type
|
|
|
| Huntington Disease |
|
Huntington'S Disease
|
Huntington Chorea
|
|
Huntington'S Chorea
|
HD
|
|
Huntington Chronic Progressive Hereditary Chorea
|
Juvenile Huntington Disease
|
|
Chronic Progressive Chorea
|
Chronic Progressive Hereditary Chorea
|
|
Hc - [Huntington Chorea]
|
Hereditary Chorea
|
|
Progressive Hereditary Chorea
|
|
|
| Physical Disorder |
|
|
