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Gene: Acer1 MGI:2181962

Gene Summary

Name:

alkaline ceramidase 1

Synonyms:

2310024P18Rik, Asah3, Cer1

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
abnormal retina morphology		Acer1^{tm1a(EUCOMM)Wtsi}	HOM		Early adult	7.97×10^-05
abnormal hair growth		Acer1^{tm1a(EUCOMM)Wtsi}	HOM		Early adult	2.17×10^-17

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Forepaw

14 Images

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Eye Morphology

Images Ophthalmoscopy

12 Images

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Anti-nuclear antibody assay

Images

6 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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DSS Histology

Images

6 Images

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Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images

Acer1^{tm1a(EUCOMM)Wtsi}
HOM, Female, WTSI

View all 70 images

Acer1^{tm1a(EUCOMM)Wtsi}
HOM, Female, WTSI

Acer1^{tm1a(EUCOMM)Wtsi}
HOM, Male, WTSI

Acer1^{tm1a(EUCOMM)Wtsi}
HOM, Female, WTSI

View all 27 images

Acer1^{tm1a(EUCOMM)Wtsi}
sparse hair, patchy fur, abnormal coat appearance, HOM, Female, WTSI

Acer1^{tm1a(EUCOMM)Wtsi}
patchy fur, abnormal coat appearance, sparse hair, HOM, Male, WTSI

Acer1^{tm1a(EUCOMM)Wtsi}
sparse hair, patchy fur, abnormal coat appearance, HOM, Female, WTSI

View all 16 images

Acer1^{tm1a(EUCOMM)Wtsi}
abnormal sebaceous gland morphology, HOM, Male, WTSI

Acer1^{tm1a(EUCOMM)Wtsi}
abnormal hair follicle infundibulum morphology, HOM, Male, WTSI

Acer1^{tm1a(EUCOMM)Wtsi}
dilated hair follicle infundibulum, HOM, Male, WTSI

View all 15 images

Acer1^{tm1a(EUCOMM)Wtsi}
abnormal retinal pigmentation, HOM, Male, WTSI

Acer1^{tm1a(EUCOMM)Wtsi}
abnormal retinal pigmentation, HOM, Female, WTSI

View all 13 images

Human diseases caused by Acer1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Acer1 (0 diseases)
Human diseases predicted to be associated with Acer1 (1265 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Acer1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Stargardt Disease 1	Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy	OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole	Drusen, Reticular pigmentary degeneration, Retinal dystrophy	OMIM:267800
Alopecia Areata 2	Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis	OMIM:610753
Hypotrichosis Simplex Of The Scalp	Abnormal eyebrow morphology, Sparse scalp hair, Parakeratosis, Epidermal acanthosis, Absent facia...	ORPHA:90368
Hypotrichosis 1	Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai...	OMIM:605389
Hypotrichosis Simplex	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair	ORPHA:55654
Hypotrichosis 9	Sparse scalp hair, Sparse body hair	OMIM:614237
Hypotrichosis 4	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair	OMIM:146550
Hypotrichosis 11	Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo...	OMIM:615059
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Sparse hair, Macular dystrophy, Reduced terminal:vellus ratio, Pili torti	OMIM:601553
Macular Degeneration, Age-Related, 13	Drusen, Macular degeneration, Choroidal neovascularization, Macular scar	OMIM:615439
Palmoplantar Keratoderma And Congenital Alopecia 2	Alopecia totalis, Camptodactyly of finger, Palmoplantar hyperkeratosis, Facial erythema, Hyperker...	OMIM:212360
Erythrokeratodermia Variabilis	Alopecia, Skin rash, Abnormal hair morphology, Erythema, Patchy palmoplantar hyperkeratosis, Dry ...	ORPHA:317
Dissecting Cellulitis Of The Scalp	Recurrent skin infections, Edema, Abnormal hair morphology, Pruritus, Cellulitis	ORPHA:345
Erythrokeratodermia Variabilis Et Progressiva 5	Abnormal hair morphology, Hyperkeratosis, Onychogryposis, Palmoplantar hyperkeratosis	OMIM:617756
Graham Little-Piccardi-Lassueur Syndrome	Sparse scalp hair, Alopecia, Sparse axillary hair, Pruritus, Sparse pubic hair	ORPHA:505
Alopecia Universalis Congenita	Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis	OMIM:203655
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Bathing Suit Ichthyosis	Alopecia, Parakeratosis, Epidermal acanthosis, Multiple joint contractures, Thickened skin, Palmo...	ORPHA:100976
Classic Mycosis Fungoides	Alopecia, Skin rash, Eczema, Edema, Pruritus, Splenomegaly, Erythema, Skin ulcer, Hyperkeratosis,...	ORPHA:2584
Bazex Syndrome	Parakeratosis, Edema, Yellow nails, Pruritus, Anemia, Hyperkeratosis, Palmoplantar keratoderma, N...	ORPHA:166113
Ulerythema Ophryogenesis	Acne, Facial erythema, Hyperkeratotic papule, Follicular hyperkeratosis, Dry skin, Contact dermat...	ORPHA:3406
Alopecia-Intellectual Disability Syndrome 1	Alopecia, Alopecia universalis	OMIM:203650
Alopecia Totalis	Alopecia, Alopecia of scalp	ORPHA:700
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Congenital onychodystrophy, Eczema, Absent eyelashes, Gen...	ORPHA:2890
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Ridged nail, Abnormal fingernail morphology, Pruritus, Palmoplantar hyperkeratosis, Hyperkeratosi...	ORPHA:89838
Anonychia With Flexural Pigmentation	Abnormal hair morphology, Hyperkeratosis, Alopecia of scalp, Follicular hyperkeratosis, Anonychia	ORPHA:69125
Alopecia Universalis	Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis	ORPHA:701
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Abnormal fingernail morphology, Sparse eyebrow, Hypoplastic toenails, Palmoplantar kera...	ORPHA:2722
Insulin-Resistance Syndrome Type A	Hyperkeratosis, Generalized hirsutism	ORPHA:2297
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration	OMIM:617572
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Congenital alopecia totalis, Epidermal acanthosis, Sparse eyebrow, Dry skin, Absent pubic hair, C...	ORPHA:2269
Macular Degeneration, Age-Related, 11	Macular degeneration	OMIM:611953
Macular Degeneration, Age-Related, 4	Macular degeneration	OMIM:610698
Macular Degeneration, Age-Related, 7	Macular degeneration	OMIM:610149
Macular Degeneration, Age-Related, 2	Macular degeneration	OMIM:153800
Macular Degeneration, Age-Related, 6	Macular degeneration	OMIM:613757
Macular Degeneration, Age-Related, 15	Macular degeneration	OMIM:615591
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Perifolliculitis, Alopecia of scalp	OMIM:260910
Phenylketonuria	Maternal hyperphenylalaninemia, Hyperactivity, Eczema, Aggressive behavior, Dry skin, Compulsive ...	OMIM:261600
Ichthyosis With Confetti	Pruritus, Palmoplantar hyperkeratosis, Ichthyosis, Scaling skin, Hypoplastic nipples, Erythroderm...	OMIM:609165
Alopecia Areata 1	Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis	OMIM:104000
Ichthyosis Hystrix Of Curth-Macklin	Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Flexion contracture, Hyperkeratos...	ORPHA:79503
Lipoid Proteinosis Of Urbach And Wiethe	Scarring, Aggressive behavior, Thickened skin, Hyperkeratosis, Patchy alopecia, Reduced epidermal...	OMIM:247100
Kerion Celsi	Alopecia, Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent ...	ORPHA:499
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Concave nail, Diffuse palmoplantar hyperkeratosis, Nonepidermolytic palmoplantar hyperkeratosis, ...	ORPHA:530838
Exudative Vitreoretinopathy 3	Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold	OMIM:605750
Peeling Skin Syndrome 3	Abnormal hair morphology, Erythema, White scaling skin, Pruritus	OMIM:616265
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Parana Hard Skin Syndrome	Hyperkeratosis, Generalized hirsutism, Thickened skin	ORPHA:2812
Ectodermal Dysplasia 6, Hair/Nail Type	Sparse hair, Alopecia, Thin toenail, Dystrophic toenail	OMIM:614928
Schopf-Schulz-Passarge Syndrome	Ridged nail, Narrow nail, Thin nail, Poroma, Hyperkeratosis, Palmoplantar keratoderma, Onycholysi...	OMIM:224750
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Alopecia, Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia, Pruritus, Recurrent pne...	OMIM:618282
Keratoderma Hereditarium Mutilans With Ichthyosis	Alopecia, Parakeratosis, Epidermal acanthosis, Scaling skin on fingertip, Hypergranulosis, Palmop...	ORPHA:79395
Woolly Hair, Autosomal Recessive 3	Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa	OMIM:616760
Centrifugal Lipodystrophy	Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Alopecia, Lipoatrophy,...	ORPHA:90156
Congenital Disorder Of Glycosylation, Type Iq	Failure to thrive, Eczema, Microcytic anemia, Cutis laxa, Hyperkeratosis, Ichthyosis, Dysphagia, ...	OMIM:612379
Ichthyosis, Annular Epidermolytic, 1	Abnormal hair morphology, Erythema, Hyperparakeratosis, Palmoplantar hyperkeratosis, Congenital b...	OMIM:607602
Familial Reactive Perforating Collagenosis	Inflammatory abnormality of the skin, Perifolliculitis, Maculopapular exanthema, Abnormal fingern...	ORPHA:79147
Netherton Syndrome	Hypernatremic dehydration, Sparse scalp hair, Parakeratosis, Brittle hair, Recurrent skin infecti...	OMIM:256500
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula...	OMIM:312700
Hidrotic Ectodermal Dysplasia	Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p...	ORPHA:189
Idiopathic Localized Lipodystrophy	Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lipoatrophy, Pruritus,...	ORPHA:90158
Candidiasis, Familial, 1	Alopecia, Chronic mucocutaneous candidiasis	OMIM:114580
Hypertrichosis, Anterior Cervical	Anterior cervical hypertrichosis	OMIM:600457
Omenn Syndrome	Alopecia, Failure to thrive, Pneumonia, Edema, Eosinophilia, Pruritus, Thickened skin, Leukocytos...	ORPHA:39041
Hypertrichosis Universalis Congenita, Ambras Type	Congenital, generalized hypertrichosis	OMIM:145701
Retinal Degeneration And Epilepsy	Retinal degeneration	OMIM:267740
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Keratitis, Facial erythema, Follicu...	OMIM:308800
Lamellar Ichthyosis	Pruritus, Lack of skin elasticity, Dehydration, Hyperkeratosis, Ichthyosis, Abnormality of the na...	ORPHA:313
Epidermolysis Bullosa Dystrophica, Pretibial	Pruritus, Hyperkeratosis, Atrophic scars, Nail dystrophy	OMIM:131850
Late-Onset Retinal Degeneration	Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ...	OMIM:605670
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Alopecia of scalp, Spa...	OMIM:617294
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def...	ORPHA:71526
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Eczema, Pruritus, Palmoplantar keratoderm...	OMIM:618535
L-Ferritin Deficiency	Decreased circulating ferritin concentration, Restless legs, Alopecia	OMIM:615604
Microcephalic Primordial Dwarfism, Montreal Type	Abnormal hair quantity, Lipoatrophy, Cryptorchidism, Dry skin, Low posterior hairline, Premature ...	ORPHA:2617
Tooth Agenesis, Selective, 8	Sparse eyebrow, Dry skin, Sparse hair	OMIM:617073
Sorsby Pseudoinflammatory Fundus Dystrophy	Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro...	ORPHA:59181
Peeling Skin Syndrome 1	Brittle hair, Eosinophilia, Pruritus, Onycholysis, Scaling skin, Nail dystrophy, Erythroderma	OMIM:270300
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Pruritus, Alopecia, Plantar hyperkeratosis, Nail dystrophy	OMIM:616487
Ectodermal Dysplasia/Skin Fragility Syndrome	Absent eyebrow, Absent eyelashes, Palmoplantar hyperkeratosis, Nail dystrophy, Scaling skin, Spar...	OMIM:604536
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Hypohidrosis, Abno...	ORPHA:248
Incontinentia Pigmenti	Ridged nail, Uveitis, Coarse hair, Pallor, Sparse hair, Atrophic, patchy alopecia, Alopecia, Macu...	OMIM:308300
Kid Syndrome	Angular cheilitis, Scarring alopecia of scalp, Posterior blepharitis, Recurrent cutaneous fungal ...	ORPHA:477
Congenital Disorder Of Glycosylation, Type Im	Alopecia, Inflammatory abnormality of the skin, Sparse eyelashes, Failure to thrive, Increased ci...	OMIM:610768
Ectodermal Dysplasia 9, Hair/Nail Type	Concave nail, Absent eyelashes, Atrichia, Nail dystrophy, Nail dysplasia, Sparse hair, Absent hair	OMIM:614931
Ichthyosis, Congenital, Autosomal Recessive 14	Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbu...	OMIM:617571
Quinquaud Folliculitis Decalvans	Recurrent skin infections, Scarring, Abnormal hair morphology, Scarring alopecia of scalp, Pustul...	ORPHA:346
Cervical Hypertrichosis With Underlying Kyphoscoliosis	Anterior cervical hypertrichosis, Sacral hypertrichosis, Lumbar hypertrichosis, Thoracic hypertri...	OMIM:117850
Acrokeratosis Verruciformis	Ridged nail, Epidermal acanthosis, Acrokeratosis, Punctate palmoplantar hyperkeratosis, Hyperkera...	OMIM:101900
Trichothiodystrophy 1, Photosensitive	Brittle hair, Trichoschisis, Small for gestational age, Flexion contracture, Absence of subcutane...	OMIM:601675
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat...	OMIM:180210
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Epidermal acanthosis, Angular cheilitis, Acantholysis, Pruritus, Punctate palmoplantar hyperkerat...	OMIM:616295
Acquired Ichthyosis	Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyos...	ORPHA:454
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Chronic oral candidiasis, Hemolytic anemia, Psoriasiform dermatitis, Failure to thrive in infancy...	OMIM:606367
Ichthyosis, Congenital, Autosomal Recessive 1	Alopecia, Parakeratosis, Epidermal acanthosis, Flexion contracture, Palmoplantar hyperkeratosis, ...	OMIM:242300
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormal retinal morphology, Abnormali...	ORPHA:170
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Peeling Skin Syndrome 4	Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Scaling skin, Ich...	OMIM:607936
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Alopecia, Parakeratosis, Sparse eyelashes, Thick hair, Epidermal acanthosis, Sparse eyebrow, Prur...	OMIM:607626
Parc Syndrome	Absent eyelashes, Absent eyebrow, Alopecia	OMIM:600331
Sézary Syndrome	Alopecia, Edema, Pruritus, Splenomegaly, Palmoplantar keratoderma, Nail dystrophy, Erythroderma, ...	ORPHA:3162
Congenital Ichthyosiform Erythroderma	Alopecia, Pruritus, Hypohidrosis, Erythroderma, Failure to thrive, Abnormality of the nail	ORPHA:79394
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Verrucous Hemangioma	Inflammatory abnormality of the skin, Hyperkeratotic papule, Epidermal acanthosis	ORPHA:464318
Autosomal Dominant Hyper-Ige Syndrome	Osteomyelitis, Skin rash, Eczema, Eosinophilia, Abnormal hair morphology, Pruritus, Paronychia, S...	ORPHA:2314
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Plantar hyperkeratosis, Pruritus, Hyperkeratosis, Nail dystrophy, Palmar hyperkeratosis	ORPHA:79399
Dystrophic Epidermolysis Bullosa Pruriginosa	Scarring, Pruritus, Hyperkeratosis, Atrophic scars, Nail dystrophy, Abnormal toenail morphology	ORPHA:89843
Macular Degeneration, Age-Related, 1	Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg...	OMIM:603075
X-Linked Dominant Chondrodysplasia Punctata	Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Flexion cont...	ORPHA:35173
Coffin-Siris Syndrome 8	Sparse scalp hair, Hyperactivity, Inguinal hernia, Eczema, Aggressive behavior, Cryptorchidism, S...	OMIM:618362
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Sparse scalp hair, Alopecia, Sparse eyebrow, Hypothyroidism, Fine hair, Hypohidrosis, Dystrophic ...	ORPHA:1882
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyelashes, Edema, Acantholysis, Sparse eyebrow, Palmoplantar hyperkeratosis, Pal...	OMIM:605676
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Lymphopenia, Alopecia, Psoriasiform lesion, Eosinophilia, Autoimmune thrombocytopenia, Decreased ...	ORPHA:169154
Incontinentia Pigmenti	Uveitis, Abnormal toenail morphology, Infectious encephalitis, Abnormality of the nail, Alopecia,...	ORPHA:464
Ichthyosis, Hystrix-Like, With Deafness	Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow...	OMIM:602540
Porphyria Cutanea Tarda	Recurrent bacterial skin infections, Viral hepatitis, Decreased circulating hepcidin concentratio...	ORPHA:101330
Moynahan Syndrome	Sparse hair, Hyperkeratosis, Alopecia, Cachexia	ORPHA:2574
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Alopecia, Camptodactyly of finger, Palmoplantar keratoderma, Fingernail dysplasia, Sparse hair, O...	ORPHA:2251
Netherton Syndrome	Sparse scalp hair, Sparse eyelashes, Eczema, Skin rash, Sparse eyebrow, Abnormal hair morphology,...	ORPHA:634
Olmsted Syndrome 2	Parakeratosis, Epidermal acanthosis, Pruritus, Perioral hyperkeratosis, Cheilitis, Palmoplantar h...	OMIM:619208
Dermoodontodysplasia	Dry skin, Nail dysplasia, Trichodysplasia	OMIM:125640
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	Ridged nail, Nail pits, Congenital alopecia totalis	ORPHA:169095
Prolidase Deficiency	Abnormal fingernail morphology, Pruritus, Splenomegaly, Erythema, Low anterior hairline, Crusting...	ORPHA:742
Ectodermal Dysplasia 4, Hair/Nail Type	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod...	OMIM:602032
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Failure to thrive, Sinusitis, Slow-growing hair, Eczema, Trichorrhexis no...	ORPHA:238468
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Alopecia, Plantar hyperkeratosis, Nail dystrophy, Nail dysplasia, Palmar hyperkeratosis, Hyperker...	ORPHA:79397
Rothmund-Thomson Syndrome, Type 1	Absent eyebrow, Thin nail, Absent eyelashes, Hyperkeratosis, Recurrent otitis media, Nail dystrop...	OMIM:618625
Keratoderma Hereditarium Mutilans	Alopecia, Honeycomb palmoplantar hyperkeratosis, Self-injurious behavior, Hyperkeratosis, Ichthyo...	ORPHA:494
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair, Dry skin	OMIM:129490
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl...	ORPHA:284426
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Psoriasiform dermatitis, Eosinophilia...	OMIM:617237
Ichthyosis Hystrix, Curth-Macklin Type	Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin	OMIM:146590
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Alopecia totalis	ORPHA:1014
Marie Unna Hereditary Hypotrichosis	Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e...	ORPHA:444
Palmoplantar Keratoderma, Norrbotten Recessive Type	Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections	OMIM:244850
Trichothiodystrophy 6, Nonphotosensitive	Brittle hair, Small for gestational age, Slow-growing hair, Ichthyosis, Tiger tail banding, Dry skin	OMIM:616943
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Sparse scalp hair, Abnormal eyelash morphology, Periodontitis, Sparse body hair, Alopecia univers...	ORPHA:1008
Birdshot Chorioretinopathy	Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz...	ORPHA:179
Oliver-Mcfarlane Syndrome	Alopecia, Small for gestational age, Decreased response to growth hormone stimulation test, Long ...	OMIM:275400
Leopard Syndrome 3	Curly hair, Epidermal hyperkeratosis, Low posterior hairline, Hyperkeratosis, Dry skin	OMIM:613707
Amelo-Onycho-Hypohidrotic Syndrome	Abnormal fingernail morphology, Abnormal dental enamel morphology, Hypoplastic toenails, Fine hai...	ORPHA:1028
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Inguinal hernia, Erythema, Hyperkeratosis, Scaling skin, Congenital nonbullous ichthyosiform eryt...	OMIM:614457
Angioma Serpiginosum, X-Linked	Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair	OMIM:300652
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Alopecia, Sparse eyelashes, Sparse eyebrow, Hypohidrosis, Nail dysplasia, Erysipelas	OMIM:615704
Hypotrichosis 6	Brittle hair, Sparse eyelashes, Sparse eyebrow, Pruritus, Erythema, Follicular hyperkeratosis, Sp...	OMIM:607903
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Ridged nail, Absent eyebrow, Sparse scalp hair, Flexion contracture of finger, Sparse eyelashes, ...	ORPHA:1010
Ichthyosis Vulgaris	Eczematoid dermatitis, Absent keratohyalin granules, Dry skin, Ichthyosis	OMIM:146700
Congenital Panfollicular Nevus	Pruritus, Hyperkeratosis	ORPHA:139414
Aicardi-Goutieres Syndrome 5	Chilblains, Flexion contracture, Scaling skin, Dry skin, Thrombocytopenia	OMIM:612952
Dermoodontodysplasia	Sparse scalp hair, Fingernail dysplasia, Trichodysplasia, Dry skin, Toenail dysplasia, Sparse bod...	ORPHA:1660
Congenital Heart Defects And Ectodermal Dysplasia	Medial flaring of the eyebrow, Sparse scalp hair, Attention deficit hyperactivity disorder, High ...	OMIM:617364
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Recurrent skin infections, Scarring, Pruritus, Recurrent pneumonia, Cheilitis, Palmo...	ORPHA:158668
Ichthyosis, Lamellar, Autosomal Dominant	Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:146750
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	Elbow hypertrichosis, Eczema, Aggressive behavior, Pica, Obesity, Long eyelashes, Dry skin	OMIM:620191
Erosive Pustular Dermatosis Of The Scalp	Abnormal hair morphology, Scarring alopecia of scalp, Erythema, Pustule	ORPHA:222
Flynn-Aird Syndrome	Hyperkeratosis, Alopecia, Alopecia of scalp	OMIM:136300
Porokeratosis Of Mibelli	Pruritus, Hyperkeratosis, Porokeratosis	ORPHA:735
Thumb Deformity And Alopecia	Alopecia	OMIM:188150
Odontoonychodermal Dysplasia	Ridged nail, Dry hair, Palmoplantar hyperkeratosis, Dystrophic fingernails, Thin nail, Sparse eye...	OMIM:257980
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Keratitis, Facial erythem...	OMIM:612843
Squalene Synthase Deficiency	Failure to thrive in infancy, Increased circulating farnesol concentration, Bilateral cryptorchid...	OMIM:618156
Atrophoderma Vermiculata	Pruritus, Abnormal epidermal morphology, Erythema, Atrophic scars, Follicular hyperkeratosis, Hyp...	ORPHA:79100
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Aggressive behavior, Abnormal hair whorl, Synophrys, Increased body weight, Low posterior hairlin...	OMIM:300860
Roifman Syndrome	Hip contracture, Eczema, Hyperconvex nail, Eosinophilia, Recurrent pneumonia, Prominent eyelashes...	ORPHA:353298
Hatipoglu Immunodeficiency Syndrome	Failure to thrive, Fair hair, Inguinal hernia, Eczema, Pancytopenia, Cryptorchidism, Thickened sk...	OMIM:620331
Congenital Disorder Of Glycosylation, Type If	Flexion contracture, Dry skin, Hyperkeratosis, Scaling skin, Erythroderma, Failure to thrive	OMIM:609180
Sjögren-Larsson Syndrome	Abnormal dental enamel morphology, Erythema, Hyperkeratosis, Ichthyosis, Dry skin, Inflammatory a...	ORPHA:816
Palmoplantar Keratoderma, Nagashima Type	Orthokeratotic hyperkeratosis, Epidermal acanthosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:615598
Cortisone Reductase Deficiency 1	Alopecia, Acne, Obesity, Hirsutism	OMIM:604931
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia...	OMIM:304790
Dermatitis, Atopic	Recurrent skin infections, Eczema, Allergic rhinitis, Pruritus, Atopic dermatitis, Facial erythem...	OMIM:603165
Aquagenic Palmoplantar Keratoderma	Edema, Excessive skin wrinkling on dorsum of hands and fingers, Atopic dermatitis, Orthokeratotic...	ORPHA:498359
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Multinodular goiter, Dry skin, Palmoplantar keratoderma, Nail dystrophy, Scaling skin, ...	OMIM:618373
Immunodeficiency 7	Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Neutropenia, Patchy alopecia, Chron...	OMIM:615387
Roifman Syndrome	Hip contracture, Eczema, Eosinophilia, Splenomegaly, Recurrent pneumonia, Prominent eyelashes, Re...	OMIM:616651
Ichthyosis, Congenital, Autosomal Recessive 6	Parakeratosis, Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Gene...	OMIM:612281
Lipoid Proteinosis	Acne, Scarring, Pustule, Thickened skin, Hyperkeratosis, Dysphagia, Alopecia of scalp	ORPHA:530
Bullous Dystrophy, Hereditary Macular Type	Alopecia totalis, Abnormality of the nail	OMIM:302000
Ectodermal Dysplasia-Syndactyly Syndrome 1	Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h...	OMIM:613573
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Alopecia, Small for gestational age, Decreased response to growth hormone stimulation test, Crypt...	ORPHA:3363
Mucoepithelial Dysplasia, Hereditary	Alopecia, Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Kerato...	OMIM:158310
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Retinitis Pigmentosa 70	Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615922
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Brittle hair, Plantar hyperkeratosis, Epidermal hyperkeratosis, Sparse eyebrow, Leukony...	OMIM:104100
Nicolaides-Baraitser Syndrome	Alopecia, Eczema, Curly eyelashes, Highly arched eyebrow, Abnormal hair pattern, Cryptorchidism, ...	ORPHA:3051
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:158000
Peeling Skin Syndrome 5	Hyperkeratosis, Epidermal acanthosis, Scaling skin	OMIM:617115
Ichthyosis, Congenital, Autosomal Recessive 13	Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Ichthyosis	OMIM:617574
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Lupus Erythematosus Tumidus	Scarring, Deep dermal perivascular inflammatory infiltrate, Scaling skin	ORPHA:90283
Omenn Syndrome	Alopecia, Severe B lymphocytopenia, Pneumonia, Eosinophilia, Thickened skin, Splenomegaly, Thromb...	OMIM:603554
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Osteomyelitis, Skin rash, Thrombocyto...	ORPHA:47
Acrodermatitis Enteropathica	Ridged nail, Abnormal eyebrow morphology, Alopecia, Failure to thrive, Anorexia, Pustule, Paronyc...	ORPHA:37
Retinitis Pigmentosa 50	Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal...	OMIM:613194
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Parakeratosis, Pruritus, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Nail dy...	OMIM:615821
Bjornstad Syndrome	Anhidrosis, Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular int...	OMIM:262000
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1	Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ...	OMIM:613000
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Pruritus, Weight loss, Hyperhidrosis	ORPHA:86893
Lichen Planopilaris	Alopecia, Abnormal fingernail morphology, Pruritus, Hepatitis, Skin ulcer, Hyperkeratosis, Onycho...	ORPHA:525
Immunodeficiency 58	Recurrent cutaneous abscess formation, Psoriasiform lesion, Eczema, Allergic rhinitis, Seborrheic...	OMIM:618131
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Increased adipose tissue, Obesity, Acanthosis nigricans, Polyphagia, Childh...	ORPHA:71529
Rhizomelic Chondrodysplasia Punctata	Alopecia, Dry skin, Sparse body hair, Ichthyosis	ORPHA:177
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Olmsted Syndrome 1	Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos...	OMIM:614594
Distal Duplication 6P	Abnormal hair quantity, Abnormal eyelash morphology, Fine hair, Hernia, Dry skin	ORPHA:1745
Mal De Meleda	Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Ep...	ORPHA:87503
Porphyria Cutanea Tarda	Facial hypertrichosis, Alopecia, Onycholysis, Reduced uroporphyrinogen decarboxylase activity	OMIM:176100
Acral Peeling Skin Syndrome	Eczema, Erythema, Scaling skin, Ichthyosis, Excessive wrinkling of palmar skin	ORPHA:263534
Rapp-Hodgkin Syndrome	Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Dry skin, Fine hair, P...	OMIM:129400
Bachmann-Bupp Syndrome	Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Polyhydramnios, Large for gestational age, A...	OMIM:619075
Naegeli-Franceschetti-Jadassohn Syndrome	Subungual hyperkeratosis, Flexion contracture of finger, Interphalangeal joint contracture of fin...	ORPHA:69087
Radio-Tartaglia Syndrome	Thick eyebrow, Striae distensae, Highly arched eyebrow, Long eyebrows, Aggressive behavior, Impul...	OMIM:619312
Epidermolytic Hyperkeratosis 1	Epidermal acanthosis, Erythroderma, Palmoplantar hyperkeratosis, Scaling skin, Congenital bullous...	OMIM:113800
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Multiple joint contractures, Overweight, Cryptorchidism, Follicular hyperkeratosis, Dry skin, Mil...	ORPHA:486815
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Hyperkeratosis, Epidermal acanthosis	OMIM:615028
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Abnormal dental enamel morphology, H...	ORPHA:2325
Ichthyosis, Congenital, Autosomal Recessive 2	Alopecia, Epidermal acanthosis, Thin nail, Hypergranulosis, Abnormal hair morphology, Erythema, H...	OMIM:242100
Acute Generalized Exanthematous Pustulosis	Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Acantholysis, Pruritus,...	ORPHA:293173
Autoinflammation With Arthritis And Dyskeratosis	Failure to thrive, Autoimmune hemolytic anemia, Epidermal acanthosis, Elevated circulating C-reac...	OMIM:617388
Epidermolytic Palmoplantar Keratoderma	Epidermal acanthosis, Interphalangeal joint contracture of finger, Abnormal fingernail morphology...	ORPHA:2199
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Parakeratosis, Epidermal acanthosis, Alopecia totalis, Posterior blepha...	OMIM:300918
Recessive X-Linked Ichthyosis	Cryptorchidism, Hyperkeratosis, Attention deficit hyperactivity disorder, Ichthyosis, Dry skin	ORPHA:461
Hypotrichosis 12	Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho...	OMIM:615885
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Skin rash, Eosinophilia, Erythema, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Eczema...	OMIM:147060
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hyperactivity, Hypopigmentation of hair, Obesity, Inappropriate laughter, Polyphagia	ORPHA:411515
Ichthyosis Prematurity Syndrome	Epidermal acanthosis, Allergic rhinitis, Polyhydramnios, Pruritus, Generalized ichthyosis, Follic...	OMIM:608649
Ramon Syndrome	Abnormal dental enamel morphology, Hyperkeratosis, Failure to thrive, Generalized hirsutism	ORPHA:3019
Basan Syndrome	Palmoplantar keratoderma, Epidermal acanthosis, Nail dystrophy, Flexion contracture of digit	OMIM:129200
Hypotrichosis 7	Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor...	OMIM:604379
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Alopecia totalis, Lack of skin elasticity, Atypical scarring of skin, Palmoplantar keratoderma, N...	ORPHA:1366
X-Linked Intellectual Disability, Stocco Dos Santos Type	Hyperactivity, Small for gestational age, Hirsutism	ORPHA:85288
Peeling Skin Syndrome 6	Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin	OMIM:618084
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Pruritus, Hyperkerat...	OMIM:602400
Graft Versus Host Disease	Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Du...	ORPHA:39812
Clouston Syndrome	Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Pa...	OMIM:129500
Noonan Syndrome 8	Curly hair, Eczema, Polyhydramnios, Large for gestational age, Cryptorchidism, Patent ductus arte...	OMIM:615355
Hair Defect With Photosensitivity And Mental Retardation	Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair	OMIM:234030
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Ridged nail, Alopecia, Nail dystrophy, Nail pits	OMIM:601705
Ectodermal Dysplasia-Syndactyly Syndrome 2	Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ichthyosiform erythroderm...	OMIM:613576
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Recurrent skin infections, Pneumonia, Aplastic anemia, Eosinophilia, Pyod...	ORPHA:486
Cutaneous Mastocytoma	Maculopapular exanthema, Pruritus, Thickened skin, Angioedema, Erythema, Scaling skin, Peau d'orange	ORPHA:79455
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce...	OMIM:600059
Isaacs Syndrome	Weight loss, Hyperhidrosis	ORPHA:84142
Alopecia-Intellectual Disability Syndrome	Sparse scalp hair, Alopecia, Flexion contracture, Ichthyosis, Sparse body hair, Aplasia/Hypoplasi...	ORPHA:2850
14Q11.2 Microduplication Syndrome	Highly arched eyebrow, Aggressive behavior, Obesity, Attention deficit hyperactivity disorder, Ac...	ORPHA:261229
Pigmented Nodular Adrenocortical Disease, Primary, 4	Alopecia, Adrenal hyperplasia, Acne, Dorsocervical fat pad, Increased body weight, Increased circ...	OMIM:615830
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h...	ORPHA:573
Pseudoprogeria Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Decreased body weight, Sparse hair, F...	ORPHA:2985
Fibrodysplasia Ossificans Progressiva	Alopecia, Failure to thrive, Anemia	ORPHA:337
Psoriasis 2	Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Hyperkeratosis, Scaling skin	OMIM:602723
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Melanonychia, Edema, Lymphedema, Abnormal eyelash morphology, Abnormal hair morphology, Thickened...	ORPHA:2526
Dowling-Degos Disease 4	Pruritus, Epidermal acanthosis, Hypergranulosis	OMIM:615696
Eosinophilic Gastroenteritis	Allergic rhinitis, Elevated circulating C-reactive protein concentration, Edema, Eosinophilia, Le...	ORPHA:2070
Noonan Syndrome 13	Highly arched eyebrow, Aggressive behavior, Lymphedema, Cryptorchidism, Head-banging, Low posteri...	OMIM:619087
Epidermolysis Bullosa Simplex 1C, Localized	Hyperkeratosis	OMIM:131800
Rhizomelic Chondrodysplasia Punctata, Type 1	Alopecia, Flexion contracture, Elevated circulating phytanic acid concentration, Ichthyosis, Seve...	OMIM:215100
Familial Melanoma	Neoplasm of the pancreas, Dry skin, Abnormal hair morphology	ORPHA:618
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of hair, Polyphagia, Obesity	ORPHA:177910
2Q23.1 Microdeletion Syndrome	Hyperactivity, Highly arched eyebrow, Cryptorchidism, Synophrys, Paroxysmal bursts of laughter, P...	ORPHA:228402
Arthrogryposis And Ectodermal Dysplasia	Absent eyebrow, Abnormal dental enamel morphology, Trichiasis, Atypical scarring of skin, Hyperke...	OMIM:601701
Acute Myelomonocytic Leukemia	Eosinophilia, Thrombocytopenia, Leukocytosis, Weight loss, Pallor, Anemia	ORPHA:517
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Ichthyosis follicularis, Atrichia, Scaling skin, Periungual erythema, Dystrophic fingernails, Abs...	OMIM:308205
Systemic Lupus Erythematosus 17	Lymphopenia, Alopecia, Autoimmune thrombocytopenia, Thrombocytopenia, Leukopenia, Optic neuritis,...	OMIM:301080
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Subungual hyperkeratosis, Eczema, Scarring alopecia of scalp, Hypoplastic sweat glands, Nail dyst...	OMIM:617337
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Eosinophilia, Thin eyebrow, Abnormally low T cell receptor excision circle level	OMIM:618092
Keratosis Palmoplantaris Striata Ii	Palmoplantar keratoderma, Epidermal acanthosis	OMIM:612908
Hidrotic Ectodermal Dysplasia, Halal Type	Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e...	ORPHA:1809
Bacterial Toxic-Shock Syndrome	Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Edema, Increa...	ORPHA:36234
Crandall Syndrome	Alopecia, Brittle hair, Fine hair, Pili torti, Abnormal testis morphology, Sparse body hair, Apla...	ORPHA:202
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Eczema, Eosinophilia, Keratitis, Bronchiectasis, Recurrent otitis media, Joint contracture of the...	OMIM:618523
Adiposis Dolorosa	Recurrent skin infections, Sparse axillary hair, Sparse pubic hair, Xerostomia, Obesity, Arthriti...	ORPHA:36397
Recon Progeroid Syndrome	Thrombocytopenia, Hyperconvex thumb nails, Absent lower eyelashes, Anemia, Keratoconjunctivitis s...	OMIM:620370
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Elevated proportion of C...	OMIM:619802
Eosinophilic Fasciitis	Fasciitis, Myositis, Abnormal eosinophil morphology, Eosinophilia, Edema, Weight loss, Arthritis,...	ORPHA:3165
Obesity And Hypopigmentation	Red hair, Polyphagia, Obesity	OMIM:620195
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Decreased serum iron, Hypereo...	OMIM:212050
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Alopecia, Decreased circulating ceruloplasmin concentration, Decreased circulating copper concent...	OMIM:242150
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis	ORPHA:86923
Trichothiodystrophy 7, Nonphotosensitive	Brittle hair, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkerat...	OMIM:618546
Pili Torti	Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ...	ORPHA:2889
Chilblain Lupus	Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Skin ulcer, Chronic myelomon...	ORPHA:90280
Palmoplantar Keratoderma, Punctate Type Iii	Hyperkeratosis, Acrokeratosis	OMIM:101850
Dermatoleukodystrophy	Hyperkeratosis, Thickened skin	ORPHA:1659
Costello Syndrome	Deep-set nails, Failure to thrive in infancy, Redundant skin, Abnormal dental enamel morphology, ...	ORPHA:3071
Palmoplantar Keratoderma-Deafness Syndrome	Hyperkeratosis, Palmoplantar keratoderma	ORPHA:2202
Noonan Syndrome 5	Curly hair, Polyhydramnios, Large for gestational age, Sparse eyebrow, Cryptorchidism, Fine hair,...	OMIM:611553
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Reduced subcutaneous adipose tissue, Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashe...	OMIM:137940
Senior-Loken Syndrome 7	Retinal degeneration	OMIM:613615
Pseudopelade Of Brocq	Sparse scalp hair, Alopecia, Recurrent skin infections, Abnormal hair morphology, Abnormality of ...	ORPHA:129
Huriez Syndrome	Lack of skin elasticity, Palmoplantar keratoderma, Small nail, Dry skin, Abnormality of the nail,...	ORPHA:384
Ectodermal Dysplasia/Short Stature Syndrome	Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Dysphagia, Enamel...	OMIM:616029
Dowling-Degos Disease 2	Hyperkeratotic papule, Follicular hyperkeratosis	OMIM:615327
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Joint contracture, Dry skin, Follicular hyperkeratosis	OMIM:617066
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Small for gestational age, Onychauxis, Acanthosis nigricans, Dry skin, Hypertrichosis	OMIM:262190
Wells Syndrome	Eosinophilia, Edema, Pruritus, Cellulitis, Skin vesicle	ORPHA:901
Generalized Eruptive Histiocytosis	Maculopapular exanthema, Pruritus, Hypereosinophilia, Leukemia, Histiocytosis	ORPHA:157991
Ichthyosis Hystrix, Lambert Type	Hyperkeratosis, Orthokeratotic hyperkeratosis	OMIM:146600
Cardiofaciocutaneous Syndrome	Brittle hair, Slow-growing hair, Redundant skin, Failure to thrive in infancy, Lymphedema, Abnorm...	ORPHA:1340
Hypotrichosis With Juvenile Macular Degeneration	Sparse scalp hair, Brittle hair, Fine hair, Hyperkeratosis, Pili torti	ORPHA:1573
Idiopathic Trachyonychia	Ridged nail, Thin nail, Concave nail, Autoimmune thrombocytopenia, Atopic dermatitis, Nail pits, ...	ORPHA:79153
Hypotrichosis 13	Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology	OMIM:615896
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Skin ulcer, Hyperkeratosis, Interstitial pneumonitis, Scali...	ORPHA:454831
Hypotrichosis 5	Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs...	OMIM:612841
Darier Disease	Acrokeratosis, Abnormal hair morphology, Pruritus, Thickened skin, Palmoplantar keratoderma, Skin...	ORPHA:218
Linear Atrophoderma Of Moulin	Pruritus, Scleroderma, Inflammatory abnormality of the skin	ORPHA:140933
Amyloidosis, Primary Localized Cutaneous, 3	Pruritus, Dry skin	OMIM:617920
Alopecia-Intellectual Disability Syndrome 4	Alopecia, Bilateral cryptorchidism, Erythroderma, Agitation, Ichthyosis	OMIM:618840
Pachyonychia Congenita	Alopecia, Angular cheilitis, Paronychia, Onychogryposis of toenails, Linear arrays of macular hyp...	ORPHA:2309
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Alopecia, Hypertriglyceridemia, Lipoatrophy, Increa...	ORPHA:2457
Pemphigus Foliaceus	Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Erythema, Crusting erythematous dermati...	ORPHA:79481
Complex Regional Pain Syndrome	Abnormality of hair growth, Edema of the upper limbs, Slow-growing nails, Erythema, Pedal edema, ...	ORPHA:83452
Hyperkeratosis-Hyperpigmentation Syndrome	Hyperkeratosis	ORPHA:1336
Immunodeficiency, Common Variable, 12, With Autoimmunity	Alopecia, Atrophic gastritis, Recurrent skin infections, Autoimmune hemolytic anemia, Recurrent p...	OMIM:616576
Proteus Syndrome	Epidermal acanthosis, Splenomegaly, Hyperkeratosis, Multiple lipomas, Lipoma	OMIM:176920
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Sparse hair, Dry skin, Acanthosis nigricans, Polycystic ovaries	OMIM:268020
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Epidermal acanthosis, Hypergranulosis, Yellow nails, Palmoplantar hyperkeratosis, Orthokeratotic ...	OMIM:148700
Iga Pemphigus	Neutrophilic infiltration of the skin, Eosinophilia, Acantholysis, Pustule, Pruritus, Ulcerative ...	ORPHA:555905
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Eosinophilia, Atopic dermatitis, Bronchiectasis, Ulcerative colitis, Colonic eosinophi...	OMIM:617638
Reticulate Acropigmentation Of Kitamura	Hyperkeratosis	OMIM:615537
21Q22.11Q22.12 Microdeletion Syndrome	Hyperactivity, Failure to thrive in infancy, Thrombocytopenia, Tongue thrusting, Anemia, Self-inj...	ORPHA:261323
Psoriasis 14, Pustular	Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Cholangitis, Elevated circulating C...	OMIM:614204
19Q13.11 Microdeletion Syndrome	Failure to thrive, Supernumerary nipple, Cachexia, Cryptorchidism, Fine hair, Sparse or absent ey...	ORPHA:217346
Hypotrichosis And Recurrent Skin Vesicles	Sparse scalp hair, Sparse eyelashes, Epidermal acanthosis, Sparse axillary hair, Angular cheiliti...	OMIM:613102
Congenital Disorder Of Glycosylation, Type Iil	Failure to thrive, Pancytopenia, Elevated circulating creatine kinase concentration, Splenomegaly...	OMIM:614576
Chromosome 19Q13.11 Deletion Syndrome, Distal	Reduced subcutaneous adipose tissue, Failure to thrive, Inguinal hernia, Sparse eyelashes, Sparse...	OMIM:613026
Atelis Syndrome 1	Eczema, Thrombocytopenia, Bronchiectasis, Leukopenia, Attention deficit hyperactivity disorder, D...	OMIM:620184
Trichothiodystrophy	Ridged nail, Congenital exfoliative erythroderma, Brittle hair, Multiple joint contractures, Conj...	ORPHA:33364
Ichthyosis, Congenital, Autosomal Recessive 5	Parakeratosis, Epidermal acanthosis, Acanthocytosis, Palmoplantar keratoderma, Congenital nonbull...	OMIM:604777
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Brittle hair, Camptodactyly of finger, Hyperkeratosis, Coarse hair, Joint contracture of the 5th ...	ORPHA:1883
Erythrokeratoderma ''En Cocardes''	Hyperkeratosis	ORPHA:315
Epidermolysis Bullosa, Junctional 1A, Intermediate	Plantar hyperkeratosis, Camptodactyly of finger, Patchy alopecia, Nail dystrophy, Enamel hypoplas...	OMIM:226650
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cryptorchidism, Obesity, Polycystic ovaries, Acanthosis nigricans, Keloids, Dry skin, Decreased t...	ORPHA:3085
Cronkhite-Canada Syndrome	Alopecia, Abnormal fingernail morphology, Cachexia, Anorexia, Hypoplastic toenails, Lymphedema, S...	ORPHA:2930
Ichthyosis, Annular Epidermolytic, 2	Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok...	OMIM:620148
Juvenile Dermatomyositis	Calcinosis, Alopecia, Myositis, Pericarditis, Skin rash, Elevated circulating creatine kinase con...	ORPHA:93672
Schöpf-Schulz-Passarge Syndrome	Alopecia, Ovarian neoplasm, Palmoplantar keratoderma, Sparse hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:50944
Sabinas Brittle Hair Syndrome	Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:211390
Leopard Syndrome 2	Curly hair, Dry skin	OMIM:611554
Man1B1-Cdg	Long eyebrows, Sparse eyebrow, Abnormal position of hair whorl, Cutis laxa, Truncal obesity, Long...	ORPHA:397941
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Highly arched eyebrow, Aggressive behavior, Cryptorchidism, Low anterior hairline, Hirsutism, Woo...	OMIM:619244
Hypereosinophilic Syndrome, Idiopathic	Pruritus, Splenomegaly, Eosinophilia, Myeloproliferative disorder	OMIM:607685
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Pneumonia, Anorexia, Eosinophilia, Recurrent pneumonia, Hepatitis, Hepa...	ORPHA:169160
Woolly Hair, Autosomal Dominant	Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai...	OMIM:194300
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome	Dry skin, Ichthyosis	ORPHA:2271
Bone Marrow Failure Syndrome 3	Aplastic anemia, Pancreatic steatosis, Hernia, Neutropenia, Sparse hair, Amelogenesis imperfecta,...	OMIM:617052
Schaaf-Yang Syndrome	Failure to thrive in infancy, Impulsivity, Cryptorchidism, Flexion contracture, Obesity, Skin-pic...	OMIM:615547
Erythrokeratodermia Variabilis Et Progressiva 4	Epidermal acanthosis, Erythema, Palmoplantar hyperkeratosis, Hyperkeratosis, Congenital nonbullou...	OMIM:617526
Myoectodermal Gonadal Dysgenesis Syndrome	Omphalocele, Accessory spleen, Small for gestational age, Elevated circulating luteinizing hormon...	OMIM:618419
Ectodermal Dysplasia With Mental Retardation And Syndactyly	Sparse eyebrow, Dry skin, Onychogryposis of toenails	OMIM:600906
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Generalized hypoplasia of dental enamel, Alopecia, Flexion contracture	OMIM:203550
Holocarboxylase Synthetase Deficiency	Alopecia, Eczema, Anorexia, Hyperammonemia, Keratoconjunctivitis, Weight loss, Thrombocytopenia, ...	ORPHA:79242
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Arthritis, Lymphopenia, Eosinophilia, Thickened skin	ORPHA:2582
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Alazami-Yuan Syndrome	Thick eyebrow, Hyperactivity, Highly arched eyebrow, Cryptorchidism, Synophrys, Low anterior hair...	OMIM:617126
Anonychia With Flexural Pigmentation	Anonychia, Dry skin	OMIM:106750
Pulmonary Blastoma	Weight loss	ORPHA:64741
Congenital Lethal Erythroderma	Congenital exfoliative erythroderma, Dry skin, Hypoalbuminemia, Ichthyosis, Failure to thrive	ORPHA:1954
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Parakeratosis, Hyperconvex nail, Linear arrays of macular hyperkeratoses in flexural areas, Honey...	OMIM:601952
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Poikiloderma With Neutropenia	Plantar hyperkeratosis, Skin rash, Elevated circulating creatine kinase concentration, Edema, Spa...	OMIM:604173
Immunodeficiency 51	Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic mucocutaneous candidiasis, Recurre...	OMIM:613953
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Abnormal fingernail morphology, Pruritus, Gastrointestinal inflammation, Atypical scarring of ski...	ORPHA:79410
Ectodermal Dysplasia 7, Hair/Nail Type	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa...	OMIM:614929
Lipodystrophy, Familial Partial, Type 7	Loss of subcutaneous adipose tissue in limbs, Sparse scalp hair, Failure to thrive, Hypertriglyce...	OMIM:606721
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Nail dystrophy, Erythema migrans, Skin vesicle	ORPHA:158681
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Neutropenia, Chronic otitis media, Decreas...	ORPHA:443811
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots	OMIM:193230
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Failure to thrive, Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration ...	OMIM:615508
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate...	OMIM:305390
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Alopecia, Striae distensae, Acne, Paradoxical increased cortisol secretion on dexamethasone suppr...	ORPHA:189427
Hypothyroidism, Congenital, Nongoitrous, 6	Omphalocele, Increased body mass index, Increased body weight, Dry skin, Anemia	OMIM:614450
Hypotrichosis 14	Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair	OMIM:618275
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Xerostomia,...	OMIM:614941
Autism Spectrum Disorder Due To Auts2 Deficiency	Hyperactivity, Inguinal hernia, Small for gestational age, Eczema, Highly arched eyebrow, Cryptor...	ORPHA:352490
Elastosis Perforans Serpiginosa	Hyperkeratotic papule, Epidermal acanthosis, Crusting erythematous dermatitis, Cutis laxa	ORPHA:79148
6Q16 Microdeletion Syndrome	Abnormal temper tantrums, Polyphagia, Obesity, Thick eyebrow	ORPHA:171829
Ichthyosis-Prematurity Syndrome	Eosinophilia, Ichthyosis	ORPHA:88621
Rabson-Mendenhall Syndrome	Reduced subcutaneous adipose tissue, Enlarged ovaries, Thick hair, Onychauxis, Low anterior hairl...	ORPHA:769
Diffuse Cutaneous Mastocytosis	Pruritus, Thickened skin, Abnormality of the spleen, Scaling skin, Lymphocytosis, Erythroderma, P...	ORPHA:79456
Alpha-Heavy Chain Disease	Alopecia, Splenomegaly, Hypocalcemia, Ascites, Anemia	ORPHA:100025
Werner Syndrome	Sparse scalp hair, Lipodystrophy, Lipoatrophy, Abnormal hair whorl, Lack of skin elasticity, Skin...	ORPHA:902
Erythrokeratodermia Variabilis Et Progressiva 3	Epidermal acanthosis, Hypergranulosis, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar kerato...	OMIM:617525
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Recurrent bacterial skin infections, Sparse eyelashes, Trichiasis, Sparse eyebrow, Keratitis, Elb...	OMIM:148210
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Inguinal hernia, Abnormal dental enamel morphology, Supernumerary nipple, Polyhydramnios, Cryptor...	ORPHA:1812
Donohue Syndrome	Adipose tissue loss, Acanthosis nigricans, Hyperkeratosis, Ovarian cyst, Nail dysplasia, Severe f...	OMIM:246200
Adult Syndrome	Sparse scalp hair, Absent nipple, Fair hair, Eczema, Sparse axillary hair, Dry skin, Nail pits, C...	OMIM:103285
Diencephalic Syndrome	Decreased body weight, Cachexia, Hyperhidrosis	ORPHA:1672
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hyperactivity, Hypertriglyceridemia, Reduced intraabdominal ...	ORPHA:363400
Late-Onset Isolated Acth Deficiency	Hypoparathyroidism, Hyponatremia, Decreased circulating cortisol level, Failure to thrive, Normoc...	ORPHA:199299
Koolen-De Vries Syndrome	Failure to thrive, Hyperactivity, Small for gestational age, Eczema, Impulsivity, Abnormality of ...	OMIM:610443
Cinca Syndrome	Skin rash, Eosinophilia, Elevated circulating C-reactive protein concentration, Lymphedema, Leuko...	OMIM:607115
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Alopecia, Autoimmune hemolytic ...	OMIM:615559
Central Precocious Puberty In Male	Acne, Abnormality of the testis size, Aggressive behavior, Pituitary microadenoma, Abnormality of...	ORPHA:649929
9P13 Microdeletion Syndrome	Hyperconvex nail, Highly arched eyebrow, Hypoplastic toenails, Attention deficit hyperactivity di...	ORPHA:324313
H Syndrome	Abnormal eyebrow morphology, Alopecia, Psoriasiform dermatitis, Hypertriglyceridemia, Lipodystrop...	ORPHA:168569
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Fetal ascites, Synophrys, Flexion contract...	OMIM:619503
Koolen-De Vries Syndrome	Hypopigmentation of hair, Abnormal dental enamel morphology, Abnormality of hair texture, Cryptor...	ORPHA:96169
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Lymphopenia, Aplasia of the thymus, Pneumonia, Eosinophilia, Splenomegaly, Alopecia of scalp, B l...	OMIM:602450
Neonatal Inflammatory Skin And Bowel Disease	Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Erythema, Hor...	ORPHA:294023
Graves Disease, Susceptibility To, 1	Increased circulating free T4 concentration, Increased circulating free T3, Weight loss, Hyperhid...	OMIM:275000
Hereditary Mucoepithelial Dysplasia	Sparse hair, Hyperkeratosis, Alopecia, Fine hair	ORPHA:1839
Eec Syndrome	Slow-growing hair, Decreased response to growth hormone stimulation test, Abnormal dental enamel ...	ORPHA:1896
Drug Reaction With Eosinophilia And Systemic Symptoms	Skin rash, Eosinophilia, Pustule, Myocarditis, Angioedema, Erythema, Hepatitis, Thyroiditis, Weig...	ORPHA:139402
Cebalid Syndrome	Thick eyebrow, Congenital diaphragmatic hernia, Polyphagia, Highly arched eyebrow	OMIM:618774
Cardiofaciocutaneous Syndrome 3	Hyperkeratosis, Curly hair, Failure to thrive	OMIM:615279
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin...	OMIM:133780
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Eczema, Eosinophilic infiltration of the esophagus, Eosinophilia, Recurrent pneumonia, Decreased ...	OMIM:243700
Amyloidosis, Primary Localized Cutaneous, 1	Pruritus, Dry skin, Scaling skin	OMIM:105250
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre...	OMIM:609734
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Failure to thrive, Perianal erythema, Splenomegaly, Paronychia, Alopecia of scalp, Decreased seru...	OMIM:201100
Den Hoed-De Boer-Voisin Syndrome	Overweight, Widow's peak, Obesity, Stereotypical hand wringing, Dysphagia, Oligohydramnios, Agita...	OMIM:619229
Acrokeratosis Verruciformis Of Hopf	Parakeratosis, Epidermal acanthosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperke...	ORPHA:79151
Mpdu1-Cdg	Eczema, Decreased response to growth hormone stimulation test, Elevated circulating creatine kina...	ORPHA:79323
Luscan-Lumish Syndrome	Aggressive behavior, Obesity, Polycystic ovaries, Recurrent otitis media, High anterior hairline,...	OMIM:616831
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Skin ulcer, Fine hair, Nail pits, Hypoplastic nipples...	ORPHA:978
X-Linked Intellectual Disability, Nascimento Type	Lumbar hypertrichosis, Recurrent cutaneous abscess formation, Neonatal hyperbilirubinemia, Aggres...	ORPHA:163956
Autosomal Dominant Epidermolytic Ichthyosis	Skin ulcer, Weight loss, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmoplan...	ORPHA:312
Ddost-Cdg	Failure to thrive, Dry skin, Lipodystrophy	ORPHA:300536
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Reduced subcutaneous adipose tissue, Alopecia, Limb joint contracture, Small pituitary gland	OMIM:612079
Pressure-Induced Localized Lipoatrophy	Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lipoatrophy, Erythema,...	ORPHA:90160
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Curly hair, Sparse scalp hair, Hyperactivity, Inguinal hernia, Eczema, Polyhydramnios, Large for ...	OMIM:607721
Dermatomyositis	Abnormal hair quantity, Pericarditis, Abnormal eosinophil morphology, Edema, Pruritus, Myocarditi...	ORPHA:221
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Alopecia, Brittle hair, Decreased adipose tissue ar...	OMIM:608612
Grubben-De Cock-Borghgraef Syndrome	Dry skin, Eczema	ORPHA:2101
Cushing Disease	Sparse scalp hair, Striae distensae, Adrenal hyperplasia, Acne, Paradoxical increased cortisol se...	ORPHA:96253
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Increas...	OMIM:603909
Immunodeficiency 32B	Sinusitis, Neutrophilia, Pneumonia, Eosinophilia, Thrombocytopenia, Splenomegaly, Bronchiectasis,...	OMIM:226990
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis, Psoria...	OMIM:614700
Johnson Neuroectodermal Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Hypohidrosis, Sparse hair, Failure to thrive	ORPHA:2316
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Alopecia, Abnormal fingernail morphology, Thickened skin, Erythema, Skin ulcer, Palmoplantar kera...	ORPHA:659
Sheehan Syndrome	Hyponatremia, Decreased circulating cortisol level, Sparse axillary hair, Reduced circulating pro...	ORPHA:91355
Dyskeratosis Congenita, Autosomal Dominant 3	Alopecia, Pancytopenia, Aplastic anemia, Cryptorchidism, Fine hair, Premature graying of hair, Le...	OMIM:613990
Agel Amyloidosis	Edema, Pruritus, Xerostomia, Cutis laxa, Keratoconjunctivitis sicca, Blepharochalasis, Abnormal s...	ORPHA:85448
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Intellectual Developmental Disorder, Autosomal Dominant 54	Small for gestational age, Eczema, Thin nail, Aggressive behavior, Neutropenia, Bruxism, Sparse h...	OMIM:617799
Lymphatic Malformation 4	Lymphedema, Pedal edema, Hydrocele testis, Hyperkeratosis, Cellulitis, Toenail dysplasia	OMIM:615907
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Eosinophi...	ORPHA:911
Tuberculosis	Weight loss	ORPHA:3389
Rat-Bite Fever	Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca...	ORPHA:31205
Inflammatory Skin And Bowel Disease, Neonatal, 2	Epidermal acanthosis, Polyhydramnios, Pustule, Recurrent pneumonia, Dehydration, Long eyelashes, ...	OMIM:616069
Eosinophilic Granulomatosis With Polyangiitis	Increased inflammatory response, Myositis, Sinusitis, Skin rash, Eosinophilia, Myocarditis, Endoc...	ORPHA:183
Restrictive Dermopathy	Multiple joint contractures, Short nail, Camptodactyly of finger, Epidermal hyperkeratosis, Spars...	ORPHA:1662
Linear Verrucous Nevus Syndrome	Hyperkeratosis, Sparse scalp hair, Hypophosphatemia	ORPHA:2611
Papillon-Lefèvre Syndrome	Recurrent cutaneous abscess formation, Liver abscess, Severe periodontitis, Recurrent skin infect...	ORPHA:678
Benign Cephalic Histiocytosis	Inflammatory abnormality of the skin, Skin rash, Histiocytosis	ORPHA:157997
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Eczema, Concave nail, Absent eyela...	OMIM:305100
Acute Adrenal Insufficiency	Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Failure to thrive, Salt cr...	ORPHA:95409
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperlipidemia, Polyphagia, Obesity, Aggressive behavior	ORPHA:329249
Noonan Syndrome 14	Curly hair, Lymphopenia, Polyhydramnios, Sparse eyebrow, Cryptorchidism, Low posterior hairline, ...	OMIM:619745
Immunodeficiency 23	Hemolytic anemia, Lymphopenia, Membranoproliferative glomerulonephritis, Allergic rhinitis, Eczem...	OMIM:615816
Pruritic Urticarial Papules And Plaques Of Pregnancy	Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Increased body weight, Facial ery...	ORPHA:64745
Myopia 3, Autosomal Dominant	Retinal detachment	OMIM:603221
Myopia 25, Autosomal Dominant	Retinal detachment	OMIM:617238
Myopia 2, Autosomal Dominant	Retinal detachment	OMIM:160700
Myopia 5, Autosomal Dominant	Retinal detachment	OMIM:608474
Syndromic Diarrhea	Lymphopenia, Hypopigmentation of hair, Brittle hair, Gastritis, Small for gestational age, Inguin...	ORPHA:84064
Subacute Cutaneous Lupus Erythematosus	Psoriasiform lesion, Discoid lupus rash, Cheilitis, Hyperkeratosis, Malar rash	ORPHA:163525
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Failure to thrive in infancy, Recurrent pneumonia, Bronchiectasis, Corneal scarring, Hyperkeratos...	OMIM:301220
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Lymphopenia, Abnormal B cell count, Abnormal T cell count, Skin rash, Autoimmune hemolytic anemia...	ORPHA:331206
Huntington Disease	Oral-pharyngeal dysphagia, Aggressive behavior, Weight loss, Abnormal circulating cholesterol con...	ORPHA:399
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Patent ductus arteriosus, Fine hair, Anemia, Truncal obesity, Attention deficit hyperactivity dis...	ORPHA:2637
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Iron deficiency anemia,...	ORPHA:37042
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Recurrent skin infections, Scarring, Erythema, Anemia, Atrophic scars, Palmoplantar ker...	ORPHA:79396
Peeling Skin Syndrome 2	Erythema, Scaling skin	OMIM:609796
Nestor-Guillermo Progeria Syndrome	Sparse scalp hair, Alopecia, Failure to thrive, Sparse eyelashes, Lipoatrophy, Sparse eyebrow, Fl...	OMIM:614008
Acral Self-Healing Collodion Baby	Edema of the dorsum of feet, Edema of the dorsum of hands, Erythema, Lack of skin elasticity, Pal...	ORPHA:281127
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Parakeratosis, Epidermal acanthosis, Xerostomia, Hyperkeratosis, Ichthyosis, Acanthosis nigricans...	OMIM:618527
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Recurrent skin infections, Decreased serum iron, Overweight, Repetitive compulsive behavior, Flex...	ORPHA:391372
Macs Syndrome	Alopecia, Palpebral edema, Redundant skin, Sparse eyebrow, Cryptorchidism, Bronchiectasis, Cutis ...	OMIM:613075
Hyperinsulinism Due To Hnf1A Deficiency	Small for gestational age, Large for gestational age, Decreased circulating free fatty acid level...	ORPHA:324575
Mantle Cell Lymphoma	Weight loss	ORPHA:52416
Juvenile Temporal Arteritis	Eosinophilia, Leukocytosis, Conjunctivitis, Allergic rhinitis	ORPHA:26137
Classic Hodgkin Lymphoma	Pruritus, Weight loss, Skin rash, Hyperhidrosis	ORPHA:391
Ataxia-Photosensitivity-Short Stature Syndrome	Dry skin	ORPHA:1184
Craniosynostosis-Mental Retardation-Clefting Syndrome	Dry skin	OMIM:218650
Ectodermal Dysplasia-Blindness Syndrome	Abnormal fingernail morphology, Skin ulcer, Fine hair, Hyperkeratosis, Keratoconjunctivitis sicca...	ORPHA:1806
Beta-Mercaptolactate Cysteine Disulfiduria	Umbilical hernia, Dry skin, Obesity	ORPHA:1035
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Sparse scalp hair, Alopecia, Loss of subcutaneous adipose tissue in limbs, Lipodystro...	OMIM:248370
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Inguinal hernia, Highly arched eyebrow, Large for gestational age, Palmoplantar hyperkeratosis, F...	OMIM:280000
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Alopecia, Abnormal dental enamel morphology, Highly arched eyebrow, Synophrys, Palmoplantar hyper...	ORPHA:3253
Lipodystrophy, Congenital Generalized, Type 1	Reduced subcutaneous adipose tissue, Acute pancreatitis, Hypertriglyceridemia, Lipodystrophy, Red...	OMIM:608594
Thyrotropin-Releasing Hormone Deficiency	Dry skin	OMIM:275120
Hypotonia-Cystinuria Syndrome	Decreased response to growth hormone stimulation test, Long eyelashes, Hypocalcemia, Failure to t...	OMIM:606407
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Alopecia, Abnormal dental enamel morphology, Hyperkeratosis, Ichthyosis, Sparse hair, Abnormal to...	ORPHA:1005
Flynn-Aird Syndrome	Cachexia, Alopecia, Skin ulcer	ORPHA:2047
Night Blindness, Congenital Stationary, Type 1C	Dry skin	OMIM:613216
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po...	OMIM:193235
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Alopecia, Flexion contracture, Camptodactyly	ORPHA:88630
Renpenning Syndrome	Abnormal hairshaft morphology, Alopecia, Cachexia, Thin eyebrow, Decreased testicular size	ORPHA:3242
Celiac Disease, Susceptibility To, 1	Alopecia, Macrocytic anemia, Eczema, Thyroiditis, Weight loss, Iron deficiency anemia, Recurrent ...	OMIM:212750
Immunodeficiency 88	Eosinophilia	OMIM:619630
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Pruritus, Splenomegaly, Le...	ORPHA:98849
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Eosinophilia, Myositis, Flexion contracture, Elevated circulating creatine kinase concentration	OMIM:253600
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Intellectual Developmental Disorder, Autosomal Recessive 5	Small for gestational age, Elevated circulating creatine kinase concentration, Eczema, Synophrys,...	OMIM:611091
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Myeloproliferative disorder	OMIM:131440
Hyperinsulinism Due To Ucp2 Deficiency	Large for gestational age, Decreased circulating free fatty acid level, Agitation, Pallor, Polyph...	ORPHA:276556
Bone Marrow Failure Syndrome 4	Eczema, Thrombocytopenia, Leukopenia, Bone marrow hypocellularity, Dry skin, Anemia	OMIM:618116
Jung Syndrome	Dry skin, Low posterior hairline	ORPHA:2321
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Brittle hair, Absent nipple, Sparse hair, Dry skin, Absent hair	OMIM:614940
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Atrophic scars, Hernia, Elevated circulating creatine kinase concentration, Follicular hyperkerat...	ORPHA:300179
Ichthyosis, Congenital, Autosomal Recessive 12	White scaling skin	OMIM:617320
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Inguinal hernia, Polyhydramnios, L...	ORPHA:544488
Panniculitis-Induced Localized Lipodystrophy	Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lipoatrophy, Erythema,...	ORPHA:90159
Addison Disease	Hypoparathyroidism, Hyponatremia, Decreased circulating cortisol level, Primary testicular failur...	ORPHA:85138
Short Syndrome	Alopecia, Inguinal hernia, Lipodystrophy, Abnormal dental enamel morphology, Weight loss, Excessi...	ORPHA:3163
Lipodystrophy, Congenital Generalized, Type 2	Reduced subcutaneous adipose tissue, Acute pancreatitis, Hypertriglyceridemia, Lipodystrophy, Ele...	OMIM:269700
Naxos Disease	Curly hair, Subungual hyperkeratosis, Epidermal acanthosis, Acantholysis, Sparse eyebrow, Diffuse...	OMIM:601214
Xeroderma Pigmentosum	Alopecia, Failure to thrive, Keratitis, Cryptorchidism, Thickened skin, Erythema, Hyperkeratosis,...	ORPHA:910
Barber-Say Syndrome	Dermal translucency, Absent nipple, Sparse eyelashes, Redundant skin, Lipodystrophy, Sparse eyebr...	OMIM:209885
Ichthyosis, Congenital, Autosomal Recessive 10	Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General...	OMIM:615024
Epidermolytic Hyperkeratosis 2	Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato...	OMIM:620150
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Large for gestational age, Decreased circulating free fatty acid level, Agitation, Pallor, Polyph...	ORPHA:276575
Dubowitz Syndrome	Hypoparathyroidism, Sparse scalp hair, Abnormal fingernail morphology, Eczema, Abnormality of neu...	ORPHA:235
Björnstad Syndrome	Alopecia, Brittle hair	ORPHA:123
Idiopathic Hypereosinophilic Syndrome	Cholangitis, Colitis, Pallor, Neutrophilia, Angioedema, Leukocytosis, Chronic hepatitis, Hepatosp...	ORPHA:3260
Autosomal Dominant Hypocalcemia	Alopecia, Abnormal fingernail morphology, Eczema, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia...	ORPHA:428
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Low anterior hairline, Horizontal eyebrow, High anterior hairline, Dry skin, Thick eyebrow	OMIM:618797
Chronic Mucocutaneous Candidiasis	Skin rash, Abnormal dental enamel morphology, Abnormal fingernail morphology, Pruritus, Erythema,...	ORPHA:1334
Hypomelanosis Of Ito	Alopecia	OMIM:300337
Rothmund-Thomson Syndrome	Calcinosis, Plantar hyperkeratosis, Porokeratosis, Sparse eyelashes, Alopecia totalis, Skin rash,...	ORPHA:2909
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Patent ductus arteriosus, Comedonal acne, Decreased retinol-binding protein level, Follicular hyp...	OMIM:615147
Familial Peripheral Male-Limited Precocious Puberty	Abnormal hair morphology, Macroorchidism, Acne, Attention deficit hyperactivity disorder	ORPHA:3000
Tooth Agenesis, Selective, 4	Sparse scalp hair, Sparse eyebrow, Short eyelashes, Palmar hyperkeratosis, Dry skin, Dystrophic f...	OMIM:150400
Idiopathic Chronic Eosinophilic Pneumonia	Elevated circulating C-reactive protein concentration, Leukocytosis, Hypereosinophilia, Atopic de...	ORPHA:2902
Aspergillosis	Sinusitis, Osteomyelitis, Pneumonia, Eosinophilia, Keratitis, Bronchiectasis, Hepatitis, Neutrope...	ORPHA:1163
Menkes Disease	Alopecia, Brittle hair, Decreased circulating ceruloplasmin concentration, Cutis laxa, Sparse hair	OMIM:309400
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Alopecia, Parakeratosis, Epidermal acanthosis, Elevated 8-dehydrocholesterol, Erythema, Elevated ...	OMIM:308050
Dowling-Degos Disease	Abnormal fingernail morphology, Pruritus, Hyperkeratosis, Arthritis, Skin vesicle, Hyperkeratotic...	ORPHA:79145
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Porphyria Cutanea Tarda, Type I	Eczema, Hypertrichosis	OMIM:176090
Restrictive Dermopathy 1	Sparse eyelashes, Short nail, Limb joint contracture, Epidermal hyperkeratosis, Absent eyelashes,...	OMIM:275210
Scalp-Ear-Nipple Syndrome	Palpebral edema, Sparse axillary hair, Sparse pubic hair, Thickened skin, Fine hair, Pyelonephrit...	OMIM:181270
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Vulvovaginal Gingival Syndrome	Ridged nail, Parakeratosis, Epidermal acanthosis, Pruritus, Erythema	ORPHA:83453
Pediatric Systemic Lupus Erythematosus	Lymphopenia, Alopecia, Myositis, Skin rash, Edema, Discoid lupus rash, Pericardial effusion, Arth...	ORPHA:93552
Weaver Syndrome	Deep-set nails, Inguinal hernia, Thin nail, Cryptorchidism, Patent ductus arteriosus, Cutis laxa,...	OMIM:277590
Isolated Congenital Hypoglossia/Aglossia	Weight loss	ORPHA:141152
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Cachexia, Anorexia, Xerostomia, Hypokalemia, Nail dystrophy, Hypocalcemia, Hypomagnesem...	OMIM:175500
Hypothyroidism, Congenital, Nongoitrous, 4	Omphalocele, Umbilical hernia, Dry skin	OMIM:275100
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Anorexia, Megaloblastic anemia, Cheilitis, Pallor, Failure to thrive,...	ORPHA:90045
Classic Phenylketonuria	Hypopigmentation of hair, Eczema, Lack of skin elasticity, Self-injurious behavior, Attention def...	ORPHA:79254
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p...	OMIM:601859
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Conjugated hyperbilirubinemia, Dry skin, Umbilical hernia, Abnormal circulating thyroglobulin lev...	ORPHA:95715
Aicardi-Goutieres Syndrome 9	Hemolytic anemia, Acute pancreatitis, Pericarditis, Failure to thrive, Chilblains, Edema, Pericar...	OMIM:619487
Milroy Disease	Predominantly lower limb lymphedema, Lymphedema, Erysipelas, Pedal edema, Hydrocele testis, Hyper...	ORPHA:79452
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Failure to thrive, Alopecia, Brittle hair	ORPHA:50812
Mixed Connective Tissue Disease	Hemolytic anemia, Myositis, Alopecia, Pericarditis, Skin rash, Gastritis, Myocarditis, Splenomega...	ORPHA:809
Bleeding Disorder, Platelet-Type, 21	Alopecia, Psoriasiform dermatitis, Eczema, Increased mean platelet volume, Thrombocytopenia	OMIM:617443
Hajdu-Cheney Syndrome	Failure to thrive, Inguinal hernia, Abnormal fingernail morphology, Thickened skin, Synophrys, Sp...	ORPHA:955
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Alopecia, Abnormal hair morphology, Hyperlipidemia, Generalized lipodystrophy, Nail d...	ORPHA:90154
Idiopathic Achalasia	Weight loss	ORPHA:930
Isolated Thyroid-Stimulating Hormone Deficiency	Failure to thrive, Neonatal hyperbilirubinemia, Facial edema, Pituitary hypothyroidism, Abnormal ...	ORPHA:90674
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Alopecia, Adrenal hyperplasia, Abnormal fingernail morphology, Chronic mucocu...	ORPHA:3453
Obesity Due To Sim1 Deficiency	Polyphagia, Obesity, Attention deficit hyperactivity disorder, Increased resting energy expenditure	ORPHA:369873
Kimura Disease	Abnormal salivary gland morphology, Eosinophilia	ORPHA:482
Lichen Planus Pemphigoides	Pruritus, Hyperkeratosis, Conjunctivitis, Skin vesicle, Blepharitis, Abnormality of the nail	ORPHA:254478
Benign Recurrent Intrahepatic Cholestasis	Elevated hepatic transaminase, Pruritus, Jaundice, Weight loss, Cholelithiasis, Pancreatitis	ORPHA:65682
Palmoplantar Carcinoma, Multiple Self-Healing	Parakeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Nail dystrophy, Follicular hyperke...	OMIM:615225
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Predominantly lower limb lymphedema, Palpebral edema...	ORPHA:69735
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Large for gestational age, Agitation, Pallor, Polyphagia, Increased C-peptide level	ORPHA:276580
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Ovarian neoplasm, Fine hair, Weight loss, ...	ORPHA:2221
Hallermann-Streiff Syndrome	Sparse scalp hair, Hyperactivity, Sparse eyelashes, Small for gestational age, Sparse eyebrow, Cr...	OMIM:234100
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation	Alopecia, Ichthyosis	OMIM:242510
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke...	OMIM:613736
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased...	OMIM:620085
Obesity	Increased waist to hip ratio, Obesity, Decreased resting energy expenditure	OMIM:601665
Alstrom Syndrome	Decreased HDL cholesterol concentration, Alopecia, Chronic active hepatitis, Hypertriglyceridemia...	OMIM:203800
Systemic Sclerosis	Alopecia, Pericarditis, Osteomyelitis, Glomerulonephritis, Recurrent skin infections, Elevated ci...	ORPHA:90291
Sulfite Oxidase Deficiency, Isolated	Agitation, Eczema, Elevated circulating creatine kinase concentration, Fine hair	OMIM:272300
Esophagitis, Eosinophilic, 2	Failure to thrive, Eosinophilia, Esophagitis, Dysphagia	OMIM:613412
Porokeratosis 3, Multiple Types	Parakeratosis, Porokeratosis, Nail dystrophy	OMIM:175900
Esophagitis, Eosinophilic, 1	Failure to thrive, Eosinophilia, Esophagitis, Dysphagia	OMIM:610247
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Congenital abnormal hair pattern, Pneumonia, Cryptorchidism, Atrichia, Nail dystrophy, ...	ORPHA:1867
Epidermolysis Bullosa, Lethal Acantholytic	Alopecia totalis, Acantholysis, Absent fingernail, Anonychia, Alopecia universalis	OMIM:609638
Magel2-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Impulsivity, Cryptorchidism, Flexion contracture, Xerostomia, Increased...	ORPHA:398069
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Alopecia, Abnormal dental enamel morphology, Hyperconvex fingernails, Skin vesicle, Hypoplastic f...	ORPHA:257
Trichothiodystrophy 8, Nonphotosensitive	Eczema, Sparse eyebrow, Cutis laxa, Sparse hair, Woolly hair, Trichorrhexis nodosa	OMIM:619691
Abnormal Hair, Joint Laxity, And Developmental Delay	Alopecia, Impulsivity, Aggressive behavior, Fragile nails, Small nail, Recurrent otitis media, Pi...	OMIM:261990
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Eczema, Pruritus, Pustule, Thickened skin, Ichthyosis, Palmoplantar ker...	ORPHA:2897
Menkes Disease	Hypopigmentation of hair, Osteomyelitis, Inguinal hernia, Thickened skin, Atypical scarring of sk...	ORPHA:565
Fg Syndrome 3	Hyperactivity, Cryptorchidism, Fine hair, Frontal upsweep of hair, Sparse hair, Joint contracture	OMIM:300406
Uv-Sensitive Syndrome 3	Dry skin	OMIM:614640
Thyroid Dyshormonogenesis 1	Umbilical hernia, Dry skin, Goiter	OMIM:274400
Uv-Sensitive Syndrome 1	Dry skin	OMIM:600630
Rothmund-Thomson Syndrome Type 1	Calcinosis, Plantar hyperkeratosis, Porokeratosis, Small for gestational age, Alopecia totalis, A...	ORPHA:221008
Lethal Acantholytic Erosive Disorder	Absent eyebrow, Acantholysis, Absent eyelashes, Oligohydramnios, Absent toenail, Absent fingernai...	ORPHA:158687
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Alopecia, Flexion contracture, Corneal scarring, Atrophic scars, Conjunctivitis, Nail dystrophy, ...	OMIM:226600
Kury-Isidor Syndrome	Recurrent otitis media, Alopecia, Attention deficit hyperactivity disorder, Hypertrichosis	OMIM:619762
Tetrasomy 12P	Sparse hair, Cachexia, Sparse eyebrow, Hypohidrosis	ORPHA:884
Trisomy 18P	Bilateral cryptorchidism, Attention deficit hyperactivity disorder, Polyphagia, Highly arched eye...	ORPHA:1715
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Lymphopenia, Inflammatory abnormality of the skin, Sinusitis, Aplasia of the thymus, Pneumonia, S...	OMIM:102700
Ablepharon Macrostomia Syndrome	Omphalocele, Absent eyebrow, Redundant skin, Abnormal hair pattern, Camptodactyly of finger, Abse...	ORPHA:920
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormal eyebrow morphology, Alopecia, Absent eyelashes, Hyperlipidemia, Flexion contracture, Lac...	ORPHA:90153
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilia, Atopic dermatitis, Hepatosplenomegaly, Membranous nephropathy, Colonic eosinophilia...	OMIM:618999
Leptin Deficiency Or Dysfunction	Recurrent pneumonia, Polyphagia, Decreased testicular size, Obesity	OMIM:614962
Angelman Syndrome	Hyperactivity, Aggressive behavior, Tongue thrusting, Obesity, Self-injurious behavior, Inappropr...	ORPHA:72
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Alopecia, Psoriasiform dermatitis, Decreased circulating cortisol level, Alopecia t...	ORPHA:293978
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Anorexia, Increased...	ORPHA:99889
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Recurrent pneumonia, T lymphocytopenia, Erythroderma	OMIM:610163
Gomez-Lopez-Hernandez Syndrome	Hyperactivity, Self-injurious behavior, Alopecia, Decreased response to growth hormone stimulatio...	OMIM:601853
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Enamel hypoplasia, Sparse later...	OMIM:614564
Reactive Arthritis	Pericarditis, Osteomyelitis, Pustule, Enthesitis, Weight loss, Hyperkeratosis, Inflammation of th...	ORPHA:29207
Noonan Syndrome 2	Curly hair, Polyhydramnios, Sparse eyebrow, Cryptorchidism, Increased nuchal translucency, Patent...	OMIM:605275
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Umbilical hernia, Dry skin, Large for gestational age, Goiter	ORPHA:226313
Insulin-Resistance Syndrome Type B	Osteoarthritis, Increased body weight, Leukopenia, Hypoalbuminemia, Acanthosis nigricans, Abnorma...	ORPHA:2298
Platelet-Activating Factor Acetylhydrolase Deficiency	Increased level of platelet-activating factor	OMIM:614278
Coccidioidomycosis	Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Abscess, Eosinophilia, Pruritus, Erythema nodo...	ORPHA:228123
Bazex-Dupre-Christol Syndrome	Eczema, Trichorrhexis nodosa, Atopic dermatitis, Coarse hair, Sparse hair, Trichoepithelioma, Pil...	OMIM:301845
Meige Disease	Recurrent bacterial skin infections, Recurrent skin infections, Predominantly lower limb lymphede...	ORPHA:90186
Oculocerebrocutaneous Syndrome	Cryptorchidism, Alopecia	OMIM:164180
Cyclic Neutropenia	Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Peritonitis, Enteroco...	ORPHA:2686
Sarcoidosis	Increased T cell count, Uveitis, Tubulointerstitial nephritis, Leukopenia, Hemolytic anemia, Alop...	ORPHA:797
Wiedemann-Rautenstrauch Syndrome	Flexion contracture, Hypoplasia of the thymus, Absent eyebrow, Alopecia, Absent eyelashes, Sparse...	OMIM:264090
Pick Disease Of Brain	Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition	OMIM:172700
Zinc Deficiency, Transient Neonatal	Alopecia, Eczema	OMIM:608118
Adams-Oliver Syndrome 2	Alopecia, Low anterior hairline, Small nail, Oligohydramnios	OMIM:614219
Cardiofaciocutaneous Syndrome 1	Absent eyebrow, Curly hair, Slow-growing hair, Polyhydramnios, Absent eyelashes, Splenomegaly, To...	OMIM:115150
Alg11-Cdg	Failure to thrive, Dry skin, Abnormal adipose tissue morphology	ORPHA:280071
Premature Aging Syndrome, Penttinen Type	Flexion contracture of finger, Lipoatrophy, Thickened skin, Palmoplantar hyperkeratosis, Corneal ...	OMIM:601812
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Acne, Hirsutism	OMIM:612847
Fucosidosis	Thick eyebrow, Splenomegaly, Flexion contracture, Vacuolated lymphocytes, Dry skin, Hernia, Failu...	OMIM:230000
Sting-Associated Vasculopathy, Infantile-Onset	Nailfold capillary tortuosity, Lymphopenia, Myositis, Failure to thrive, Skin rash, Elevated circ...	OMIM:615934
Dracunculiasis	Recurrent cutaneous abscess formation, Skin rash, Pruritus, Flexion contracture, Skin ulcer, Arth...	ORPHA:231
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Recurrent loss of toenails and fingernails, Crusting erythematous dermatitis, Erythema, Palmoplan...	ORPHA:158673
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Hypopigmentation of hair, Small for gestational age, Decreased response to growth hormone stimula...	ORPHA:98793
Cockayne Syndrome B	Reduced subcutaneous adipose tissue, Dry hair, Failure to thrive, Small for gestational age, Abno...	OMIM:133540
Woodhouse-Sakati Syndrome	Alopecia, Streak ovary, Decreased response to growth hormone stimulation test, Hyperlipidemia, Sc...	ORPHA:3464
Ane Syndrome	Alopecia, Multiple joint contractures, Lipoatrophy, Anterior pituitary hypoplasia, Decreased resp...	ORPHA:157954
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteomyelitis, Epidermal acanthosis, Skin rash, Elevated circulating C-reactive protein concentra...	OMIM:612852
Sim1-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Cryptorchidism, Xerostomia, Obesity, Abdominal obesity, Small pituitary...	ORPHA:398079
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Alopecia, Atrophic gastritis, Chronic active hepatitis, Asplenia, Iridocyclit...	OMIM:240300
Hydroa Vacciniforme	Superficial dermal perivascular inflammatory infiltrate, Eczema, Scarring, Keratitis, Erythema, M...	ORPHA:330058
Hypocalcemic Vitamin D-Resistant Rickets	Alopecia, Hyperparathyroidism, Abnormal adipose tissue morphology, Hypocalcemia, Hypophosphatemia	ORPHA:93160
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Predominantly lower limb lymphedema, Nonimmune hydro...	OMIM:607823
Pachyonychia Congenita 2	Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Angular cheilitis, Sparse eyebrow, Palmopl...	OMIM:167210
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Hypopigmentation of hair, Small for gestational age, Decreased response to growth hormone stimula...	ORPHA:177904
Harlequin Ichthyosis	Dehydration, Hyperkeratosis, Self-injurious behavior, Congenital ichthyosiform erythroderma, Icht...	ORPHA:457
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Hypopigmentation of hair, Small for gestational age, Decreased response to growth hormone stimula...	ORPHA:177901
Cranioectodermal Dysplasia 3	Short nail, Broad nail, Cutis laxa, Fine hair, Sparse hair, Dry skin	OMIM:614099
Galactose Epimerase Deficiency	Jaundice, Weight loss	ORPHA:79238
Limb-Mammary Syndrome	Alopecia, Absent nipple, Psoriasiform dermatitis, Chronic irritative conjunctivitis, Sparse eyebr...	ORPHA:69085
Prader-Willi Syndrome	Hypopigmentation of hair, Decreased response to growth hormone stimulation test, Edema, Cryptorch...	ORPHA:739
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Abnormality of neutrophil...	ORPHA:229717
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Small for gestational age, Decreased response to growth hormone stimula...	ORPHA:98754
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Genital edema, Eczema, Increased T cell count, Chronic mucocutaneous candidiasis, Pedal edema, In...	ORPHA:98813
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Uveitis, Hyperconvex fingernails, Conjunctivitis, Sparse hair, Abnormality of the nail, Absent ey...	ORPHA:2273
Laryngeal Neuroendocrine Tumor	Weight loss, Adrenocorticotropic hormone excess	ORPHA:100083
Psoriasis-Related Juvenile Idiopathic Arthritis	Anterior uveitis, Psoriasiform dermatitis, Psoriasiform lesion, Skin rash, Pruritus, Iridocycliti...	ORPHA:85436
Autoimmune Lymphoproliferative Syndrome	Hydrops fetalis, Uveitis, Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of ...	ORPHA:3261
Morgagni-Stewart-Morel Syndrome	Acne, Osteoarthritis, Obesity, Hyperuricemia, Hypercholesterolemia, Hirsutism	ORPHA:77296
Hutchinson-Gilford Progeria Syndrome	Alopecia, Absence of subcutaneous fat	OMIM:176670
Punctate Palmoplantar Keratoderma Type 1	Pancreatic adenocarcinoma, Epidermal acanthosis, Hypergranulosis, Abnormal epidermal morphology, ...	ORPHA:79501
Hemochromatosis, Type 1	Alopecia, Increased circulating ferritin concentration, Splenomegaly, Increased serum iron, Pleur...	OMIM:235200
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Camptodactyly of finger, Aggressive behavior, Cryptorchidism, Patchy alopecia, Decreased testicul...	ORPHA:85279
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Sparse hair, Abnormal fingernail morphology, Eczema, Sparse body hair	ORPHA:1810
Hyperkeratosis Lenticularis Perstans	Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer	ORPHA:409
Temple Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Cryptorchidism,...	ORPHA:254516
Intellectual Developmental Disorder, Autosomal Dominant 39	Self-mutilation, Polyphagia, Obesity, Aggressive behavior	OMIM:616521
Chromomycosis	Predominantly lower limb lymphedema, Edema, Lymphedema, Pruritus, Keratitis, Hyperparakeratosis, ...	ORPHA:182
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia, Obesity	OMIM:613886
Adnp Syndrome	Sparse scalp hair, Inguinal hernia, Oral-pharyngeal dysphagia, Aggressive behavior, Cryptorchidis...	ORPHA:404448
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyebrow, Hypertriglyceridemia, Lipoatrophy, Absent eyelashes, Premature graying of hair, S...	ORPHA:363618
Intellectual Developmental Disorder, Autosomal Dominant 48	Hyperactivity, Eczema, Highly arched eyebrow, Synophrys, Recurrent pneumonia, Patent ductus arter...	OMIM:617751
Syndromic Recessive X-Linked Ichthyosis	Cryptorchidism, Acute leukemia, Hyperkeratosis, Attention deficit hyperactivity disorder, Ichthyo...	ORPHA:281090
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Absent eyebrow, Alopecia, Inguinal hernia, Absent eyelashes, Cryptorchidism, Small nail, Ichthyosis	ORPHA:166035
Erythrokeratodermia Variabilis Et Progressiva 1	Epidermal acanthosis, Hypergranulosis, Patchy palmoplantar hyperkeratosis, Erythroderma, Generali...	OMIM:133200
Pediatric-Onset Graves Disease	Episcleritis, Hyperactivity, Keratitis, Splenomegaly, Oligohydramnios, Neutropenia in presence of...	ORPHA:525731
Dyskeratosis Congenita	Abnormality of neutrophils, White hair, Premature graying of hair, Periodontitis, Skin vesicle, S...	ORPHA:1775
Atypical Werner Syndrome	Abnormal hair whorl, Premature graying of hair, Alopecia, Lack of skin elasticity, Skin ulcer, Ge...	ORPHA:79474
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Bresek Syndrome	Cryptorchidism, Alopecia, Decreased testicular size, Ichthyosis	ORPHA:85284
Intellectual Developmental Disorder, Autosomal Dominant 1	Highly arched eyebrow, Aggressive behavior, Low posterior hairline, Self-injurious behavior, Long...	OMIM:156200
Kikuchi-Fujimoto Disease	Alopecia, Skin rash, Palpebral edema, Elevated circulating C-reactive protein concentration, Anor...	ORPHA:50918
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia, Streak ovary	OMIM:241090
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Acne, Thrombocytosis, Elevated circulating C-reactive protein concentration, Microc...	OMIM:604416
Neonatal Lupus Erythematosus	Hemolytic anemia, Parakeratosis, Pancytopenia, Skin rash, Maculopapular exanthema, Aplastic anemi...	ORPHA:398124
Xfe Progeroid Syndrome	Cachexia, Absence of subcutaneous fat, Dry skin, Corneal scarring, Ascites, Hypoalbuminemia, Enam...	OMIM:610965
Autoimmune Polyendocrinopathy Type 2	Hypoparathyroidism, Alopecia, Primary adrenal insufficiency, Graves disease, Hashimoto thyroiditis	ORPHA:3143
Bardet-Biedl Syndrome 22	Polyphagia, Obesity, Large for gestational age	OMIM:617119
Cln3 Disease	Acne, Aggressive behavior, Vacuolated lymphocytes, Dysphagia, Hirsutism	ORPHA:228346
Intestinal Dysmotility Syndrome	Failure to thrive, Weight loss	OMIM:620045
Adrenoleukodystrophy	Elevated circulating long chain fatty acid concentration, Alopecia, Attention deficit hyperactivi...	OMIM:300100
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypertriglyceridemia, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Sm...	OMIM:610644
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Truncal obesity, Alopecia, Supernumerary nipple	ORPHA:3224
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Abnormal dental enamel morphology, Anorexia, Thickened skin, Weight los...	ORPHA:79430
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Restlessness, Aggressive behavior, Cryptorchidism, Self-mutilation, Fine hair, Sparse hair, Polyp...	ORPHA:251028
Lymphoproliferative Syndrome, X-Linked, 2	Pancytopenia, Hypertriglyceridemia, Acne, Recurrent skin infections, Aplastic anemia, Erythema no...	OMIM:300635
Prolidase Deficiency	Eczema, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Crusting erythematous dermatitis, Sk...	OMIM:170100
Prader-Willi Syndrome	Hypopigmentation of hair, Failure to thrive in infancy, Decreased response to growth hormone stim...	OMIM:176270
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Brittle hair, Abnormality of the anterior pituitary, Coarse hair, Posterior pituitary h...	ORPHA:75389
Rhizomelic Chondrodysplasia Punctata, Type 2	Decreased circulating plasmalogen concentration, Failure to thrive, Flexion contracture, Inguinal...	OMIM:222765
Ameloonychohypohidrotic Syndrome	Onycholysis, Dry skin, Hypocalcification of dental enamel, Seborrheic dermatitis	OMIM:104570
Rothmund-Thomson Syndrome Type 2	Calcinosis, Plantar hyperkeratosis, Porokeratosis, Small for gestational age, Alopecia totalis, A...	ORPHA:221016
Gaucher Disease, Perinatal Lethal	Nonimmune hydrops fetalis, Polyhydramnios, Thrombocytopenia, Splenomegaly, Dysphagia, Hepatosplen...	OMIM:608013
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Iridocyclitis, Alopecia, Pancreatitis, Dysphagia	ORPHA:412057
Progeria-Short Stature-Pigmented Nevi Syndrome	Neoplasm of the pancreas, Alopecia, Multiple joint contractures, Small for gestational age, Lack ...	ORPHA:2959
Hereditary Sensory And Autonomic Neuropathy Type 4	Nail-biting, Fasciitis, Osteomyelitis, Hyperactivity, Abscess, Impulsivity, Tooth abscess, Cornea...	ORPHA:642
Intellectual Developmental Disorder, Autosomal Dominant 43	Hyperactivity, Impulsivity, Aggressive behavior, Synophrys, Umbilical hernia, Failure to thrive, ...	OMIM:616977
Eosinophilopenia	Decreased eosinophil count, Allergic rhinitis	OMIM:131430
Frontotemporal Dementia	Polyphagia, Disinhibition, Inappropriate laughter	OMIM:600274
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Lymphopenia, Eczema, Thrombocytopenia, Reticulocytopenia, Leukopenia, Panniculitis, B lymphocytop...	ORPHA:508542
Pachyonychia Congenita 1	Follicular hyperkeratosis, Nail dystrophy, Palmoplantar hyperkeratosis, Onychogryposis	OMIM:167200
Tangier Disease	Hypertriglyceridemia, Thrombocytopenia, Hepatosplenomegaly, Nail dystrophy, Hypocholesterolemia, ...	ORPHA:31150
Satoyoshi Syndrome	Alopecia, Mildly elevated creatine kinase, Alopecia universalis	OMIM:600705
Classical-Like Ehlers-Danlos Syndrome Type 2	Ventral hernia, Alopecia, Hypertriglyceridemia, Widened atrophic scar, Redundant skin, Inguinal h...	ORPHA:536532
Mucopolysaccharidosis, Type Iiic	Hyperactivity, Splenomegaly, Synophrys, Coarse hair, Hernia, Dysphagia, Hirsutism, Hypertrichosis	OMIM:252930
Bartsocas-Papas Syndrome 1	Omphalocele, Absent eyebrow, Alopecia, Sparse scalp hair, Inguinal hernia, Alopecia totalis, Bila...	OMIM:263650
Monosomy 18P	Lymphedema, Alopecia, Low posterior hairline	ORPHA:1598
Cole Disease	Epidermal acanthosis, Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palm...	OMIM:615522
Lymphatic Malformation 12	Inguinal hernia, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Fetal ascites, Hydrocele ...	OMIM:620014
Ichthyosis, Congenital, Autosomal Recessive 9	Epidermal acanthosis, Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythr...	OMIM:615023
Refsum Disease	Splenomegaly, Dry skin, Nail dysplasia, Ichthyosis	ORPHA:773
Wiedemann-Steiner Syndrome	Elbow hypertrichosis, Brow ptosis, Broad lateral eyebrow, Hyperactivity, Thick hair, Highly arche...	OMIM:605130
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Cryptorchidism, Alopecia, Oligohydramnios, Fine hair	ORPHA:228390
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Sparse scalp hair, Failure to thrive, Hip contracture, Sparse eyelashes, Shoulder flexion contrac...	OMIM:210710
Riddle Syndrome	Dry skin	OMIM:611943
Cockayne Syndrome A	Reduced subcutaneous adipose tissue, Hip contracture, Dry hair, Failure to thrive, Cryptorchidism...	OMIM:216400
Kleine-Levin Syndrome	Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio...	ORPHA:33543
Hypotonia-Cystinuria Syndrome	Failure to thrive, Polyphagia	ORPHA:163690
Osteosarcoma	Increased circulating lactate dehydrogenase concentration, Elevated circulating alkaline phosphat...	ORPHA:668
Neutral Lipid Storage Disease With Ichthyosis	Alopecia, Hypertriglyceridemia, Obesity, Abnormal granulocyte morphology, Abnormal circulating cr...	ORPHA:98907
Infantile Digital Fibromatosis	Hyperkeratosis, Parakeratosis, Epidermal acanthosis	ORPHA:199267
Dyskeratosis Congenita, Autosomal Recessive 6	Sparse hair, Alopecia, Failure to thrive, Nail dystrophy	OMIM:616353
Xeroderma Pigmentosum Variant	Keratitis, Dry skin	ORPHA:90342
Johanson-Blizzard Syndrome	Alopecia, Abnormal hair pattern, Edema, Failure to thrive, Hypoproteinemia, Anemia	ORPHA:2315
Thymic Carcinoma	Weight loss, Hyperhidrosis	ORPHA:99868
Huriez Syndrome	Congenital palmoplantar hyperkeratosis, Epidermal acanthosis, Nail dystrophy, Small nail	OMIM:181600
Immunodeficiency, Common Variable, 10	Trachyonychia, Psoriasiform dermatitis, Alopecia totalis, Decreased response to growth hormone st...	OMIM:615577
Localized Junctional Epidermolysis Bullosa	Dental enamel pits, Limb joint contracture, Sparse axillary hair, Sparse pubic hair, Scarring alo...	ORPHA:251393
Igg4-Related Aortitis	Increased inflammatory response, Hypereosinophilia, Elevated circulating C-reactive protein conce...	ORPHA:449400
7Q11.23 Microduplication Syndrome	Collectionism, Hyperactivity, Inguinal hernia, Congenital diaphragmatic hernia, Aggressive behavi...	ORPHA:96121
Ichthyosis, Congenital, Autosomal Recessive 7	Epidermal acanthosis, Hypergranulosis, Erythroderma, Palmoplantar keratoderma, Ichthyosis	OMIM:615022
Undifferentiated Pleomorphic Sarcoma	Weight loss	ORPHA:2023
Ectodermal Dysplasia And Immunodeficiency 2	Sparse scalp hair, Splenomegaly, Dry skin, Aplasia of the sweat glands, Sparse hair, Failure to t...	OMIM:612132
Biotinidase Deficiency	Alopecia, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly, Hyperammonem...	OMIM:253260
Hemifacial Atrophy, Progressive	Patchy alopecia, Poliosis	OMIM:141300
Cystic Echinococcosis	Abscess, Abnormality of the testis size, Eosinophilia, Weight loss, Ovarian cyst, Membranous neph...	ORPHA:400
Body Mass Index Quantitative Trait Locus 19	Hyperlipidemia, Hypertriglyceridemia, Polyphagia, Obesity	OMIM:617885
Leigh Syndrome	Alopecia, Multiple joint contractures, Eczema, Neutropenia, Dysphagia, Hyperalaninemia, Frontal h...	ORPHA:506
Loeffler Endocarditis	Pericarditis, Eosinophilia, Weight loss	ORPHA:75566
Chromosome 2Q37 Deletion Syndrome	Hyperactivity, Eczema, Highly arched eyebrow, Aggressive behavior, Obesity, Self-injurious behavi...	OMIM:600430
Wilson Disease	Acute hepatic failure, Elevated hepatic transaminase, Pruritus, Jaundice, Hepatitis, Increased bo...	ORPHA:905
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Alopecia, Acute hyperammonemia, Seborrheic dermatitis, Hyperammonemia, Hyperleucinemia, Failure t...	OMIM:210210
Spinocerebellar Ataxia Type 34	Dry skin	ORPHA:1955
Secondary Short Bowel Syndrome	Low plasma citrulline, Enterocolitis, Abnormal blood ion concentration, Weight loss, Dehydration,...	ORPHA:95427
Leprechaunism	Reduced subcutaneous adipose tissue, Enlarged ovaries, Thickened skin, Acanthosis nigricans, Hype...	ORPHA:508
Chanarin-Dorfman Syndrome	Alopecia, Congenital nonbullous ichthyosiform erythroderma	OMIM:275630
Noonan Syndrome 10	Curly hair, Sparse eyebrow, Cryptorchidism, Increased nuchal translucency, Patent ductus arterios...	OMIM:616564
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Patent ductus arterio...	OMIM:106260
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Hyperkeratosis, Parakeratosis, Agitation, Self-injurious behavior	OMIM:618339
Keutel Syndrome	Recurrent otitis media, Alopecia, Recurrent sinusitis	ORPHA:85202
Lymphatic Filariasis	Predominantly lower limb lymphedema, Glomerulonephritis, Lymphedema, Orchitis, Lymphadenitis, Kne...	ORPHA:2035
Medullary Thyroid Carcinoma	Primary hyperparathyroidism, Weight loss, Hyperhidrosis, Pheochromocytoma, Nodular goiter	ORPHA:1332
Adams-Oliver Syndrome	Alopecia, Aplastic/hypoplastic toenail, Ascites, Leukopenia, Absent fingernail, Sparse hair, Fail...	ORPHA:974
Pachydermoperiostosis	Abnormal hair quantity, Osteomyelitis, Acne, Abnormal fingernail morphology, Abnormal hair patter...	ORPHA:2796
Oculocutaneous Albinism Type 1A	Hyperkeratosis, Hypopigmentation of hair, Thickened skin, Albinism	ORPHA:79431
Mucopolysaccharidosis, Type Iiia	Hyperactivity, Inguinal hernia, Splenomegaly, Synophrys, Coarse hair, Umbilical hernia, Hirsutism	OMIM:252900
Body Mass Index Quantitative Trait Locus 20	Polyphagia, Obesity	OMIM:618406
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Polyhydramnios, Decreased proportion of CD8-positive T cells, Recurrent pneumonia, Elbow flexion ...	ORPHA:508533
Orofaciodigital Syndrome Type 1	Alopecia, Brittle hair, Abnormal dental enamel morphology, Pancreatic cysts, Coarse hair, Sparse ...	ORPHA:2750
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis, Erythroderma	OMIM:136630
Adrenocortical Carcinoma	Adrenocorticotropic hormone deficiency, Increased body weight, Hyperhidrosis, Weight loss, Increa...	ORPHA:1501
Porphyria, Congenital Erythropoietic	Absent eyebrow, Alopecia, Hemolytic anemia, Thickened skin, Scleroderma, Loss of eyelashes, Splen...	OMIM:263700
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Failure to thrive, Cachexia, Weight loss	OMIM:612075
Ichthyosis, Congenital, Autosomal Recessive 8	Epidermal acanthosis, Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis	OMIM:613943
Hereditary Sensory And Autonomic Neuropathy Type 1	Hyperkeratosis, Osteomyelitis, Penetrating foot ulcers, Skin ulcer	ORPHA:36386
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome	Hyperkeratotic papule, Palmoplantar keratoderma, Leukonychia, Palmoplantar hyperkeratosis	ORPHA:2698
Singleton-Merten Syndrome 2	Hyperkeratosis, Psoriasiform lesion	OMIM:616298
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Pituitary hypothyroidism, Obesity, Hypoplasia of the ovary, Decreased propo...	ORPHA:66628
Oculocerebrocutaneous Syndrome	Cryptorchidism, Alopecia, Abnormal fingernail morphology, Congenital diaphragmatic hernia	ORPHA:1647
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:613662
Giant Cell Arteritis	Alopecia, Pericarditis, Anorexia, Skin ulcer, Weight loss, Arthritis	ORPHA:397
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Pituitary hypothyroidism, Obesity, Hypoplasia of the ovary, Decreased propo...	ORPHA:179494
Holocarboxylase Synthetase Deficiency	Thrombocytopenia, Alopecia, Skin rash, Hyperammonemia	OMIM:253270
Chronic Graft Versus Host Disease	Fasciitis, Anorexia, Flexion contracture, Xerostomia, Skin vesicle, Alopecia, Thickened skin, Bro...	ORPHA:99921
Neuropathy, Hereditary Sensory, Type If	Hyperkeratosis, Osteomyelitis	OMIM:615632
Alveolar Echinococcosis	Liver abscess, Cholangitis, Eosinophilia, Pancreatic cysts, Pedal edema, Weight loss, Abnormal sp...	ORPHA:284
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Aplastic anemia, Thrombocytopenia, Nail pits, Hepatic necrosis, Premature ...	OMIM:127550
Chronic Hiccup	Weight loss	ORPHA:396
Erythrokeratodermia Variabilis Et Progressiva 6	Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate	OMIM:618531
Reticular Dysgenesis	Failure to thrive, Skin rash, Weight loss	ORPHA:33355
Chondrodysplasia Punctata 2, X-Linked Dominant	Sparse eyelashes, Edema, Polyhydramnios, Sparse eyebrow, Elevated 8-dehydrocholesterol, Elevated ...	OMIM:302960
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Epidermal acanthosis, Ecz...	ORPHA:83617
Familial Benign Copper Deficiency	Early balding, Decreased circulating copper concentration, Acne, Anemia	ORPHA:1551
Riddle Syndrome	Pneumonia, Elevated circulating alpha-fetoprotein concentration, Erythema, Recurrent pneumonia, W...	ORPHA:420741
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Alopecia, Decreased circulating cortisol level, Acne, Testicular adrenal rest tumor, Polycystic o...	ORPHA:90795
White Sponge Nevus 2	Hyperparakeratosis, Epidermal acanthosis, Edema	OMIM:615785
Leptin Receptor Deficiency	Decreased response to growth hormone stimulation test, Abnormal eating behavior, Aggressive behav...	OMIM:614963
Insulin Autoimmune Syndrome	Weight loss	ORPHA:411593
Chondrodysplasia Punctata, Autosomal Dominant	Hip contracture, Hyperkeratosis with erythema, Knee flexion contracture, Coarse hair, Sparse hair	OMIM:118650
Hydroxykynureninuria	Stomatitis, Abnormal circulating tryptophan concentration, Dry skin, Abnormal repetitive mannerisms	ORPHA:79155
2Q37 Microdeletion Syndrome	Sparse scalp hair, Eczema, Supernumerary nipple, Highly arched eyebrow, Sparse eyebrow, Congenita...	ORPHA:1001
Focal Dermal Hypoplasia	Omphalocele, Alopecia, Inguinal hernia, Abnormal dental enamel morphology, Congenital diaphragmat...	ORPHA:2092
Ablepharon-Macrostomia Syndrome	Ventral hernia, Absent eyebrow, Omphalocele, Redundant skin, Absent eyelashes, Hypoplastic nipple...	OMIM:200110
Uremic Pruritus	Inflammatory abnormality of the skin, Recurrent skin infections, Hypercalcemia, Renal hypophospha...	ORPHA:94059
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Lymphopenia, Eosinophilia, Erythroderma	OMIM:617425
Kleine-Levin Hibernation Syndrome	Polyphagia	OMIM:148840
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Elevated circulating alkaline phosphatase concentration, Alopecia	OMIM:600785
Gapo Syndrome	Alopecia, Sparse eyelashes, Palpebral edema, Sparse eyebrow, Early balding, Umbilical hernia	ORPHA:2067
Angiostrongyliasis	Pruritus, Hypereosinophilia, Cerebral edema	ORPHA:74
Encephalocraniocutaneous Lipomatosis	Alopecia, Cryptorchidism, Lipoma, Multiple central nervous system lipomas, Subcutaneous lipoma	OMIM:613001
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Follicular hyperkeratosis	OMIM:277350
Necrobiosis Lipoidica	Inflammatory abnormality of the skin, Erythema, Skin ulcer, Atrophic scars, Granuloma, Abnormalit...	ORPHA:542592
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Lymphadenitis, Decreased retinol-binding p...	ORPHA:449395
Müllerian Aplasia And Hyperandrogenism	Thick eyebrow, Acne, Frontal balding, Synophrys, Obesity, Facial hirsutism, High anterior hairlin...	ORPHA:247768
Mandibulofacial Dysostosis With Alopecia	Alopecia, Sparse eyelashes	OMIM:616367
Blau Syndrome	Pericarditis, Skin rash, Camptodactyly of finger, Keratitis, Retrobulbar optic neuritis, Erythema...	ORPHA:90340
Gapo Syndrome	Alopecia, Sparse eyelashes, Redundant skin, Sparse eyebrow, Hypoplastic nipples, Nail dysplasia, ...	OMIM:230740
Kindler Epidermolysis Bullosa	Recurrent skin infections, Abnormal dental enamel morphology, Camptodactyly of finger, Erythema, ...	ORPHA:2908
Mogs-Cdg	Alopecia, Pulmonary edema, Edema, Polyhydramnios, Thrombocytopenia, Hepatosplenomegaly, Hydrocele...	ORPHA:79330
Dyskeratosis Congenita, Digenic	Alopecia, Sparse eyelashes, Nail dystrophy, Dysphagia, Failure to thrive, Decreased testicular si...	OMIM:620040
Type 1 Diabetes Mellitus	Polydipsia, Polyphagia, Decreased level of 1,5 anhydroglucitol in serum	OMIM:222100
Septo-Optic Dysplasia Spectrum	Anterior pituitary hypoplasia, Cryptorchidism, Obesity, Polydipsia, Dry skin	ORPHA:3157
Autoinflammatory-Pancytopenia Syndrome	Pancytopenia, Membranoproliferative glomerulonephritis, Lipodystrophy, Intestinal inflammation, C...	OMIM:619858
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Elevated circulating C-reactive protein concentration, M...	OMIM:256040
Acrokeratoelastoidosis Of Costa	Epidermal acanthosis, Hypergranulosis, Palmoplantar hyperkeratosis, Granulomatosis, Orthokeratosi...	ORPHA:38
Leprosy	Absent eyebrow, Alopecia, Abnormality of the spleen, Testicular mass, Loss of eyelashes, Penetrat...	ORPHA:548
Viss Syndrome	Sparse scalp hair, Alopecia, Chronic gastritis, Inguinal hernia, Eczema, Polyhydramnios, Patent d...	OMIM:619472
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Premature graying of hair, Abnormal hair morphology, Cachexia, Weight loss	ORPHA:1979
Autoimmune Polyendocrine Syndrome, Type Ii	Alopecia, Asplenia, Hepatitis, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Chronic h...	OMIM:269200
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Abnormal fingernail morphology, Bronchiectasis, Weight loss	ORPHA:1164
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Vitamin D-Dependent Rickets, Type 2A	Alopecia universalis, Secondary hyperparathyroidism, Hypophosphatemia, Enamel hypoplasia, Failure...	OMIM:277440
Bardet-Biedl Syndrome 9	Truncal obesity, Polydipsia, Polyphagia, Obesity	OMIM:615986
Sialidosis Type 1	Splenomegaly, Hyperkeratosis, Hernia	ORPHA:812
X-Linked Intellectual Disability, Cabezas Type	Hyperactivity, Inguinal hernia, Camptodactyly of finger, Cachexia, Abnormal hair pattern, Aggress...	ORPHA:85293
Insensitivity To Pain, Congenital, With Anhidrosis	Sparse scalp hair, Hyperactivity, Osteomyelitis, Keratitis, Corneal scarring, Acral ulceration, N...	OMIM:256800
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Neutrophilic infiltration of the skin, Lipodystrophy, Skin rash, Elevate...	OMIM:618048
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hyperkeratosis, Lymphedema	ORPHA:79279
Mucopolysaccharidosis, Type Iiib	Hyperactivity, Aggressive behavior, Splenomegaly, Synophrys, Coarse hair, Hirsutism	OMIM:252920
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Impulsivity, Abnormality of hair texture, Aggressive behavior, Thickened skin, Synophrys, Hypopla...	ORPHA:73223
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Restlessness, Hyperactivity, Aggressive behavior, Cryptorchidism, Flexion contracture, Patchy alo...	OMIM:300534
Nicolaides-Baraitser Syndrome	Absent eyebrow, Dry hair, Sparse scalp hair, Failure to thrive, Eczema, Inguinal hernia, Aggressi...	OMIM:601358
Mcdonough Syndrome	Cryptorchidism, Synophrys, Cachexia	ORPHA:2471
Chime Syndrome	Erythema, Skin ulcer, Fine hair, Acute leukemia, Hyperkeratosis, Ichthyosis, Sparse hair	ORPHA:3474
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Alopecia	OMIM:600142
Majeed Syndrome	Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Anemia of inadequate production, ...	OMIM:609628
Igg4-Related Pachymeningitis	Sinusitis, Eosinophilia, Elevated circulating C-reactive protein concentration, Lymphadenitis, Dy...	ORPHA:449427
Aggressive Systemic Mastocytosis	Maculopapular exanthema, Portal hypertension, Pruritus, Weight loss, Elevated circulating alkalin...	ORPHA:98850
Proteasome-Associated Autoinflammatory Syndrome 3	Lymphopenia, Myositis, Sinusitis, Skin rash, Hypertriglyceridemia, Lipodystrophy, Periorbital ede...	OMIM:617591
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Failure to thrive in infancy,...	OMIM:163950
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Small for gestational age, Alopecia totalis, Elevated circulating creatine kinase concentration, ...	OMIM:618775
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Takayasu Arteritis	Weight loss, Hyperhidrosis	ORPHA:3287
Satoyoshi Syndrome	Abnormal hair morphology, Sparse or absent eyelashes, Hypoplasia of the ovary, Abnormality of the...	ORPHA:3130
Localized Scleroderma	Fasciitis, Abnormal skin adnexa morphology, Thickened skin, Erythema, Flexion contracture, Uveiti...	ORPHA:90289
Immunodeficiency 55	Absent natural killer cells, Recurrent skin infections, Eczema, Neutropenia, Dry skin, Ichthyosis...	OMIM:617827
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Eosinophilia, Edema of the dorsum of hands, Pancreatic cysts, Seborr...	OMIM:274000
Peroxisome Biogenesis Disorder 14B	Hydrocele testis, Dry skin	OMIM:614920
Fibrodysplasia Ossificans Progressiva	Elevated circulating alkaline phosphatase concentration, Alopecia	OMIM:135100
Fucosidosis	Lipoatrophy, Failure to thrive, Generalized hyperkeratosis, Abnormality of the nail	ORPHA:349
Schimmelpenning-Feuerstein-Mims Syndrome	Hypophosphatemic rickets, Alopecia, Ichthyosis	OMIM:163200
Irida Syndrome	Hyperkeratosis, Decreased circulating copper concentration, Pallor, Ichthyosis	ORPHA:209981
Atopic Keratoconjunctivitis	Keratitis, Loss of eyelashes, Keratoconjunctivitis sicca, Dry skin, Blepharitis	ORPHA:163934
Insulinoma	Increased body weight, Primary hyperparathyroidism, Polyphagia, Pituitary prolactin cell adenoma	ORPHA:97279
Colchicine Poisoning	Hyponatremia, Alopecia, Myocarditis, Leukocytosis, Abnormal blood ion concentration, Dehydration,...	ORPHA:31824
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Sparse scalp hair, Inguinal hernia, Absence of Stensen duct, Decreased response to growth hormone...	OMIM:129900
Non-Functioning Paraganglioma	Episodic hyperhidrosis, Weight loss	ORPHA:94080
Mucopolysaccharidosis, Type Iiid	Restlessness, Hyperactivity, Inguinal hernia, Aggressive behavior, Splenomegaly, Synophrys, Achil...	OMIM:252940
Mulibrey Nanism	Cachexia	ORPHA:2576
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Xerostomia, Tubulointerstitial nephritis, ...	ORPHA:289390
Koolen-De Vries Syndrome Due To A Point Mutation	Alopecia, Small for gestational age, Decreased response to growth hormone stimulation test, Testi...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Alopecia, Small for gestational age, Decreased response to growth hormone stimulation test, Testi...	ORPHA:363958
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Weight loss	ORPHA:2198
Ichthyosis, Congenital, Autosomal Recessive 3	Erythema, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythrode...	OMIM:606545
Bethlem Myopathy	Multiple joint contractures, Elevated circulating creatine kinase concentration, Interphalangeal ...	ORPHA:610
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Abnormal eyebrow morphology, Alopecia, Streak ovary, Sparse facial hair, Sparse eyebrow, Cryptorc...	ORPHA:2232
Severe Generalized Junctional Epidermolysis Bullosa	Alopecia, Recurrent skin infections, Pneumonia, Edema, Paronychia, Abnormal blood ion concentrati...	ORPHA:79404
Pachyonychia Congenita 3	Chapped lip, Plantar hyperkeratosis, Onychogryposis of toenails, Palmoplantar keratoderma, Nail d...	OMIM:615726
Bullous Pemphigoid	Psoriasiform dermatitis, Eczema, Weight loss	ORPHA:703
Vohwinkel Syndrome, Variant Form	Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat...	OMIM:604117
Protoporphyria, Erythropoietic, 1	Hemolytic anemia, Hypertriglyceridemia, Eczema, Edema, Pruritus, Erythema, Cholelithiasis	OMIM:177000
Seborrhea-Like Dermatitis With Psoriasiform Elements	Hyperkeratosis, Epidermal acanthosis, Seborrheic dermatitis	OMIM:610227
Resistance To Thyrotropin-Releasing Hormone Syndrome	Reduced circulating prolactin concentration, Overweight, Pituitary hypothyroidism, Abnormal circu...	ORPHA:99832
Autosomal Agammaglobulinemia	Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Neutropenia, Bronchiectasis, Hepa...	ORPHA:33110
Multicentric Reticulohistiocytosis	Cachexia	ORPHA:139436
Majeed Syndrome	Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Edema, Pustule, Congenital h...	ORPHA:77297
Biotinidase Deficiency	Alopecia, Skin rash, Hyperammonemia, Conjunctivitis, Eczematoid dermatitis	ORPHA:79241
Autoimmune Polyendocrinopathy Type 4	Alopecia, Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Iridocyclitis, Xero...	ORPHA:227990
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Hyperkeratosis, High anterior hairline, Dysphagia	OMIM:615510
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Hypercalcemia, Abnormal dental enamel morphology, Obesi...	ORPHA:251004
Autoimmune Polyendocrinopathy Type 3	Alopecia, Atrophic gastritis, Macrocytic anemia, Autoimmune hypoparathyroidism, Autoimmune thromb...	ORPHA:227982
Frontonasal Dysplasia 2	Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Bilateral cryptorchidism, Fine hair, Hypohidr...	OMIM:613451
Huntington Disease-Like 2	Weight loss	OMIM:606438
Fatal Familial Insomnia	Weight loss, Hyperhidrosis	OMIM:600072
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Bartsocas-Papas Syndrome	Hypoplastic toenails, Sparse or absent eyelashes, Alopecia totalis, Aplasia/Hypoplasia of the eye...	ORPHA:1234
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Skin rash, Pruritus, Weight loss, Palmoplantar pustulosis	ORPHA:324964
Ullrich Congenital Muscular Dystrophy 1	Flexion contracture, Follicular hyperkeratosis, Failure to thrive, Slender build, Mildly elevated...	OMIM:254090
Focal Facial Dermal Dysplasia Type Iv	Abnormal mast cell morphology, Abnormal epidermal morphology, Scarring	ORPHA:398189
Aicardi-Goutières Syndrome	Myositis, Multiple joint contractures, Lipoatrophy, Chilblains, Neonatal alloimmune thrombocytope...	ORPHA:51
Polyendocrine-Polyneuropathy Syndrome	Decreased testicular size, Alopecia, Anterior pituitary hypoplasia	ORPHA:453533
Trichorhinophalangeal Syndrome, Type Ii	Sparse scalp hair, Chronic gastritis, Inguinal hernia, Bilateral cryptorchidism, Redundant skin i...	OMIM:150230
Bloom Syndrome	Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Sparse eyelashes, Pneumonia...	ORPHA:125
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Panniculitis, Weight loss	ORPHA:86884
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis	OMIM:173200
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Generalized hirsutism, Cachexia	ORPHA:1933
Yao Syndrome	Xerostomia, Inflammatory abnormality of the skin, Skin rash, Weight loss	OMIM:617321
Generalized Pseudohypoaldosteronism Type 1	Failure to thrive in infancy, Pustule, Glucocortocoid-insensitive primary hyperaldosteronism, Ato...	ORPHA:171876
Hereditary Acrokeratotic Poikiloderma	Eczema, Camptodactyly of finger, Pustule, Erythema, Xerostomia, Skin ulcer, Palmoplantar hyperker...	ORPHA:2907
Helsmoortel-Van Der Aa Syndrome	Hyperactivity, Decreased response to growth hormone stimulation test, Cryptorchidism, Abnormal re...	OMIM:615873
Distal Deletion 19P	Alopecia, Vaginal hernia, Umbilical hernia, Keloids, Thick eyebrow	ORPHA:96129
Trichotillomania	Hair-pulling, Alopecia, Compulsive behaviors	OMIM:613229
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Anorexia, Oral-pharyngeal dysphagia, Xerostomia, Gastrointestinal inflammation, Conjunctivitis, N...	ORPHA:95455
Oculopharyngodistal Myopathy	Weight loss	ORPHA:98897
B4Galt1-Cdg	Inflammatory abnormality of the skin, Redundant neck skin, Small for gestational age, Elevated ci...	ORPHA:79332
Chand Syndrome	Curly hair, Dry skin, Nail dysplasia	ORPHA:1401
Familial Thrombocytosis	Pruritus, Weight loss, Hyperhidrosis	ORPHA:71493
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Lymphopenia, Inflammatory abnormality of the skin, Sinusitis, Recurrent pneumonia, T lymphocytope...	ORPHA:277
Relapsing Polychondritis	Episcleritis, Alopecia, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Erythema, Hepa...	ORPHA:728
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Sparse scalp hair, Sparse eyelashes, Absence of Stensen duct, Decreased response to growth hormon...	OMIM:604292
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Hyperthyroidism, Increased circulating free T4 concentration, Weight loss, Increased circulating ...	OMIM:613239
Christianson Syndrome	Cachexia, Thick eyebrow	ORPHA:85278
Chronic Actinic Dermatitis	Late onset atopic dermatitis, Epidermal acanthosis, Eczema, Allergic rhinitis, Pruritus, Erythrod...	ORPHA:330064
Ramon Syndrome	Hyperkeratosis, Decreased body weight, Juvenile rheumatoid arthritis, Hypertrichosis	OMIM:266270
Rothmund-Thomson Syndrome, Type 2	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Small for gestational age, Absent ...	OMIM:268400
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Hyperactivity, Nonimmune hydrops fetalis, Lymphedema, Periorbital edema, Cryptorchidism, Pericard...	OMIM:235510
Mednik Syndrome	Hyperkeratosis, Decreased circulating ceruloplasmin concentration, Decreased circulating copper c...	ORPHA:171851
Juvenile Huntington Disease	Weight loss	ORPHA:248111
O'Sullivan-Mcleod Syndrome	Eosinophilia	ORPHA:99965
1P36 Deletion Syndrome	Abnormal eyebrow morphology, Camptodactyly of finger, Cryptorchidism, Abnormality of the spleen, ...	ORPHA:1606
Idiopathic Acute Eosinophilic Pneumonia	Abnormal eosinophil morphology	ORPHA:724
Igg4-Related Submandibular Gland Disease	Cholangitis, Eosinophilia, Facial edema, Periorbital edema, Prostatitis, Enlarged lacrimal glands...	ORPHA:449432
Chromosome Xq26.3 Duplication Syndrome	Elevated circulating growth hormone concentration, Pituitary adenoma, Acanthosis nigricans, Hypop...	OMIM:300942
Igg4-Related Ophthalmic Disease	Sinusitis, Palpebral edema, Cholangitis, Elevated circulating C-reactive protein concentration, E...	ORPHA:449563
Renal Glucosuria	Polydipsia, Polyphagia	OMIM:233100
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Dry skin, Skin rash, Cachexia	ORPHA:220295
Chédiak-Higashi Syndrome	Edema, Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, ...	ORPHA:167
Palmoplantar Keratoderma, Punctate Type Ia	Orthokeratosis, Punctate palmoplantar hyperkeratosis, Epidermal acanthosis, Hypergranulosis	OMIM:148600
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Lipoma, Hyperkeratosis, Pilomatrixoma, Multinodular goiter	OMIM:620189
Mu-Heavy Chain Disease	Weight loss	ORPHA:100024
Poems Syndrome	Primary adrenal insufficiency, Abnormality of skin physiology, Leukonychia, Weight loss, Hypothyr...	ORPHA:2905
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Pruritus, Jaundice, Ovarian neoplasm, Weight loss, Increased circulatin...	ORPHA:370348
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Familial Hemophagocytic Lymphohistiocytosis	Hypertriglyceridemia, Maculopapular exanthema, Skin rash, Increased circulating ferritin concentr...	ORPHA:540
Systemic Lupus Erythematosus	Hemolytic anemia, Alopecia, Lupus nephritis, Discoid lupus rash, Cheilitis, Arthritis, Leukopenia...	ORPHA:536
Pseudohypoparathyroidism Type 1C	Calcinosis, Decreased response to growth hormone stimulation test, Reduced circulating prolactin ...	ORPHA:79444
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated hepatic transaminase, Cachexia, Weight loss	ORPHA:298
Estrogen Resistance Syndrome	Acne, Abnormality of the pubic hair, Enlarged polycystic ovaries, Increased circulating gonadotro...	ORPHA:785
Inflammatory Skin And Bowel Disease, Neonatal, 1	Perianal erythema, Pustule, Paronychia, Perioral erythema, Erythroderma, Failure to thrive, Bleph...	OMIM:614328
Central Diabetes Insipidus	Failure to thrive, Weight loss	ORPHA:178029
Sweet Syndrome	Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn...	ORPHA:3243
Helix Syndrome	Hyperparathyroidism, Hypermagnesemia, Xerostomia, Hypokalemia, Polydipsia, Dry skin	OMIM:617671
Nodular Non-Suppurative Panniculitis	Panniculitis, Weight loss	ORPHA:33577
Coffin-Siris Syndrome	Sparse scalp hair, Thick eyebrow, Hyperactivity, Hypoplastic fifth toenail, Aggressive behavior, ...	ORPHA:1465
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Abnormal lactate dehydrogenase level, Decreased liver function, Ca...	ORPHA:42
Ring Chromosome 12 Syndrome	Acne, Small for gestational age, Cryptorchidism, Hirsutism, Breast hypoplasia, Dystrophic toenail	ORPHA:1439
Encephalocraniocutaneous Lipomatosis	Abnormal eyelash morphology, Multiple lipomas, Alopecia, Lipodystrophy	ORPHA:2396
Hereditary Central Diabetes Insipidus	Weight loss	ORPHA:30925
X-Linked Acrogigantism	Enlarged pituitary gland, Increased body mass index, Elevated circulating growth hormone concentr...	ORPHA:300373
Spinocerebellar Ataxia 34	Erythroderma, Epidermal hyperkeratosis	OMIM:133190
Attrv30M Amyloidosis	Weight loss	ORPHA:85447
Familial Benign Chronic Pemphigus	Skin vesicle, Hyperkeratosis, Erythema, Acantholysis	ORPHA:2841
W Syndrome	Acne, Abnormality of the scalp hair, Camptodactyly	ORPHA:2804
Aredyld Syndrome	Cachexia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:1133
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Sparse hair, Patchy alopecia	OMIM:617763
Wagro Syndrome	Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Polyphagia, Decreased testicular size	OMIM:612469
Plague	Chapped lip, Skin rash, Anorexia, Edema, Erythema nodosum, Lymphadenitis, Splenomegaly, Enterocol...	ORPHA:707
Xylt1-Cdg	Truncal obesity, Synophrys, Acne, Hirsutism	ORPHA:370930
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia	ORPHA:157973
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hyperthyroidism, Weight loss, Goiter	OMIM:188580
Alexander Disease Type I	Failure to thrive, Cachexia	ORPHA:363717
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Eczema, Elevated circulating creatine kinase concentration, Lymphadenitis, Leukocytosis, Splenome...	OMIM:615895
Follicular Lymphoma	Weight loss	ORPHA:545
Pleural Mesothelioma	Weight loss	ORPHA:50251
Hallermann-Streiff Syndrome	Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Cryptorchidism, Uveitis,...	ORPHA:2108
Darier-White Disease	Ridged nail, Acrokeratosis, Acantholysis, Pruritus, Enlargement of parotid gland, Subungual hyper...	OMIM:124200
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Accessory spleen, Dry skin, Flexion contracture	OMIM:619306
Wiskott-Aldrich Syndrome	Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Inflammation of the large intestine...	ORPHA:906
Caroli Disease	Portal hypertension, Pruritus, Intrahepatic cholestasis, Jaundice, Elevated circulating alanine a...	ORPHA:53035
Say-Barber-Miller Syndrome	Abnormality of the hairline, Highly arched eyebrow, Eczema, Sparse eyebrow, Cryptorchidism, Eryth...	ORPHA:3132
Kanzaki Disease	Hyperkeratosis, Dry skin, Petechiae, Lymphedema	OMIM:609242
Immunodeficiency 89 And Autoimmunity	Elevated circulating C-reactive protein concentration, Bronchiectasis, Hypochromic microcytic ane...	OMIM:619632
Gm1 Gangliosidosis	Weight loss, Decreased beta-galactosidase activity, Failure to thrive, Generalized hirsutism, Hir...	ORPHA:354
Spinocerebellar Ataxia 48	Cachexia	OMIM:618093
Refractory Celiac Disease	Elevated hepatic transaminase, Inflammatory abnormality of the skin, Elevated alkaline phosphatas...	ORPHA:398063
Pseudohypoparathyroidism Type 1A	Calcinosis, Decreased response to growth hormone stimulation test, Reduced circulating prolactin ...	ORPHA:79443
Behcet Syndrome	Erythema nodosum, Iridocyclitis, Erythema, Epididymitis, Arthritis, Patchy alopecia, Iritis	OMIM:109650
Kaposi Sarcoma	Skin rash, Weight loss	ORPHA:33276
Dubowitz Syndrome	Sparse scalp hair, Hyperactivity, Inguinal hernia, Aplastic anemia, Eczema, Cryptorchidism, Acute...	OMIM:223370
Leishmaniasis	Elevated hepatic transaminase, Weight loss	ORPHA:507
Hypercalcemia, Infantile, 1	Failure to thrive, Weight loss	OMIM:143880
Hirschsprung Disease	Failure to thrive in infancy, Weight loss	ORPHA:388
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hyperkeratosis	OMIM:145250
Parkes Weber Syndrome	Scaling skin, Skin ulcer, Abnormal B-type natriuretic peptide concentration	ORPHA:90307
Porokeratosis 7, Multiple Types	Parakeratosis, Porokeratosis	OMIM:614714
Porokeratosis 1, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175800
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Failure to thrive, Recurrent skin infections, Decreased serum iron, Flexion contracture, Dysphagi...	ORPHA:89842
Complete Androgen Insensitivity Syndrome	Acne, Sparse axillary hair, Elevated circulating luteinizing hormone level, Bilateral cryptorchid...	ORPHA:99429
Mast Cell Sarcoma	Weight loss	ORPHA:66661
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Pustule, Overweight, Leukocy...	ORPHA:247353
African Trypanosomiasis	Alopecia, Pericarditis, Aggressive behavior, Keratitis, Myocarditis, Pruritus, Splenomegaly, Weig...	ORPHA:3385
Bone Dysplasia, Lethal Holmgren Type	Failure to thrive, Weight loss	ORPHA:1842
Glucagonoma	Neoplasm of the pancreas, Skin rash, Stomatitis, Elevated circulating growth hormone concentratio...	ORPHA:97280
Pneumocystosis	Increased circulating lactate dehydrogenase concentration, Weight loss, Chronic oral candidiasis	ORPHA:723
Pfapa Syndrome	Weight loss	ORPHA:42642
Woodhouse-Sakati Syndrome	Alopecia, Hyperlipidemia, Fine hair, Sparse hair, Decreased testicular size	OMIM:241080
Tyrosinemia Type 2	Hyperkeratosis, Palmoplantar keratoderma, Abnormality of the nail	ORPHA:28378
Inflammatory Pseudotumor Of The Liver	Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino...	ORPHA:90003
Acute Monoblastic/Monocytic Leukemia	Increased circulating lactate dehydrogenase concentration, Central hypothyroidism, Weight loss	ORPHA:514
Gangliocytoma	Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar...	ORPHA:251937
Autosomal Recessive Robinow Syndrome	Alopecia, Inguinal hernia, Camptodactyly of finger, Cryptorchidism, Long eyelashes, Fingernail dy...	ORPHA:1507
Sporadic Pheochromocytoma/Secreting Paraganglioma	Episodic hyperhidrosis, Extraadrenal pheochromocytoma, Weight loss, Adrenal pheochromocytoma	ORPHA:276621
Wolman Disease	Hepatic failure, Adrenal insufficiency, Cachexia	ORPHA:75233
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated circulating C-reactive protein concentration, Leukopenia, Hashimoto thyroiditis, Leukocy...	OMIM:615688
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Decreased response to growth hormone stimulation test, Aggressive behavior, Adrenoc...	ORPHA:293987
6Q Terminal Deletion Syndrome	Highly arched eyebrow, Low anterior hairline, Obesity, Hyperkeratosis, Failure to thrive	ORPHA:75857
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Leukocytosis, Flexion contracture, Abdominal obesity, Hypoplasia of the ovary, Azotemia...	OMIM:619321
Focal Myositis	Weight loss	ORPHA:48918
Desmoplastic Small Round Cell Tumor	Neoplasm of the pancreas, Cachexia, Testicular neoplasm, Weight loss, Ovarian neoplasm	ORPHA:83469
Budd-Chiari Syndrome	Elevated hepatic transaminase, Acute hepatic failure, Portal hypertension, Jaundice, Weight loss	ORPHA:131
Familial Keratoacanthoma	Hyperkeratosis, Adenoma sebaceum, Skin ulcer	ORPHA:493
Silver-Russell Syndrome	Failure to thrive in infancy, Cachexia, Cryptorchidism, Obesity, Hyperhidrosis, Decreased testicu...	ORPHA:813
Fowler Urethral Sphincter Dysfunction Syndrome	Acne, Abnormality of the ovary, Hirsutism, Polycystic ovaries	ORPHA:2795
Perry Syndrome	Weight loss	ORPHA:178509
Huntington Disease-Like 1	Weight loss	ORPHA:157941
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Lipodystrophy, Skin rash, Failure to thrive in infancy, Elevated circulating C-reac...	OMIM:617099
Dyskeratosis Congenita, X-Linked	Ridged nail, Split nail, Alopecia, Acute myeloid leukemia, Sparse eyelashes, Pancytopenia, Crypto...	OMIM:305000
Lysosomal Acid Lipase Deficiency	Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive, Cachexia, Pruri...	ORPHA:275761
Thymic Neuroendocrine Tumor	Pancreatic islet cell adenoma, Pituitary null cell adenoma, Pituitary adenoma, Primary hyperparat...	ORPHA:97289
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hyperkeratosis	ORPHA:163966
Isolated Succinate-Coq Reductase Deficiency	Weight loss	ORPHA:3208
Pseudomyxoma Peritonei	Weight loss	ORPHA:26790
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Recurrent skin infections, Glomerulonephritis, Foot joint contracture, Flexion contracture, Gastr...	ORPHA:79408
Fabry Disease	Anorexia, Lymphedema, Hyperlipidemia, Hyperkeratosis, Arthritis, Abnormal circulating lipid conce...	ORPHA:324
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Failure to thrive in infancy, Cachexia	OMIM:616801
Chromosome 1P36 Deletion Syndrome, Distal	Camptodactyly of finger, Aggressive behavior, Cryptorchidism, Synophrys, Patent ductus arteriosus...	OMIM:607872
Inflammatory Bowel Disease (Crohn Disease) 1	Weight loss	OMIM:266600
Shwachman-Diamond Syndrome	Normocytic anemia, Sinusitis, Aplastic anemia, Decreased response to growth hormone stimulation t...	ORPHA:811
Mycetoma	Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis, Osteomyelitis	ORPHA:2583
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin level, Ectopic thyroid, Hyperbilirubinemia, Umbilical hernia,...	OMIM:218700
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse	Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal acanthosis	OMIM:615735
Orofaciodigital Syndrome I	Alopecia, Dry hair, Pancreatic cysts, Ovarian cyst, Sparse hair, Enamel hypoplasia	OMIM:311200
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Activating thyroi...	ORPHA:424
Rhabdoid Tumor	Weight loss	ORPHA:69077
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia	OMIM:607485
Estrogen Resistance	Acanthosis nigricans, Breast aplasia, Acne, Polycystic ovaries	OMIM:615363
Pyoderma Gangrenosum	Myositis, Pustule, Skin ulcer, Inflammation of the large intestine, Atrophic scars, Rheumatoid ar...	ORPHA:48104
Turner Syndrome Due To Structural X Chromosome Anomalies	Alopecia, Failure to thrive in infancy, Abnormal fingernail morphology, Hashimoto thyroiditis, Ly...	ORPHA:99413
Mosaic Monosomy X	Alopecia, Failure to thrive in infancy, Abnormal fingernail morphology, Hashimoto thyroiditis, Ly...	ORPHA:99228
Monosomy X	Alopecia, Failure to thrive in infancy, Abnormal fingernail morphology, Hashimoto thyroiditis, Ly...	ORPHA:99226
Turner Syndrome	Alopecia, Failure to thrive in infancy, Abnormal fingernail morphology, Hashimoto thyroiditis, Ly...	ORPHA:881
Autosomal Dominant Robinow Syndrome	Alopecia, Inguinal hernia, Femoral hernia, Camptodactyly of finger, Curly eyelashes, Cryptorchidi...	ORPHA:3107
Riboflavin Transporter Deficiency	Cachexia	ORPHA:97229
Steinert Myotonic Dystrophy	Alopecia, Hypercholesterolemia, Decreased response to growth hormone stimulation test, Polyhydram...	ORPHA:273
Pemphigus Vulgaris	Recurrent cutaneous abscess formation, Weight loss	ORPHA:704
Sympathetic Ophthalmia	Alopecia, Poliosis, Erythema, Macular edema, Posterior uveitis	ORPHA:79098
Inflammatory Bowel Disease 11	Weight loss	OMIM:191390
Tsh-Secreting Pituitary Adenoma	Abnormal hair quantity, Enlarged pituitary gland, Hyperthyroidism, Elevated circulating growth ho...	ORPHA:91347
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Nail-biting, Eczema, Aggressive behavior, Hair-pulling, Recurrent pneumonia, Polyphagia, Self-inj...	OMIM:620330
Immunodeficiency 27A	Weight loss	OMIM:209950
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Inflammatory abnormality of the skin, Small for gestational age, Pneumonia, Elevated circulating ...	ORPHA:26793
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Abnormal testis morphology, Weight loss	ORPHA:54251
Dyrk1A-Related Intellectual Disability Syndrome	Hyperactivity, Multiple joint contractures, Small for gestational age, Eczema, Anterior pituitary...	ORPHA:464306
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Intermittent jaun...	ORPHA:100085
Linear Nevus Sebaceus Syndrome	Alopecia, Adenoma sebaceum	ORPHA:2612
Wild Type Attr Amyloidosis	Elevated circulating alkaline phosphatase concentration, Weight loss	ORPHA:330001
Chromosome 22Q13 Duplication Syndrome	Attention deficit hyperactivity disorder, Polyphagia, Impulsivity	OMIM:615538
Anaplastic Thyroid Carcinoma	Nodular goiter, Weight loss, Goiter	ORPHA:142
Grfoma	Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Intrahepatic cholest...	ORPHA:97261
Immunodeficiency 59 And Hypoglycemia	Recurrent skin infections, Herpes simplex encephalitis, Decreased proportion of class-switched me...	OMIM:233600
Interstitial Granulomatous Dermatitis With Arthritis	Inflammatory abnormality of the skin, Elevated circulating C-reactive protein concentration, Prur...	ORPHA:79099
Symptomatic Form Of Hfe-Related Hemochromatosis	Portal hypertension, Weight loss, Hypothyroidism, Chronic hepatic failure, Testicular atrophy	ORPHA:465508
Hemihyperplasia-Multiple Lipomatosis Syndrome	Lipoatrophy, Seborrheic dermatitis, Hyperparakeratosis, Hydrocele testis, Multiple lipomas, Ovari...	ORPHA:276280
Osteootohepatoenteric Syndrome	Pruritus, Failure to thrive, Weight loss, Prolonged neonatal jaundice	OMIM:619377
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Inguinal hernia, Polyhydramnios, Patent ductus arteriosus, Cutis laxa, Atrophic scars, Follicular...	OMIM:614557
Tylosis With Esophageal Cancer	Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis	OMIM:148500
Primary Sclerosing Cholangitis	Abnormal eosinophil morphology, Pruritus, Splenomegaly, Hepatitis, Uveitis, Ulcerative colitis, T...	ORPHA:171
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia	ORPHA:1389
Familial Glucocorticoid Deficiency	Decreased circulating cortisol level, Cryptorchidism, Testicular adrenal rest tumor, Weight loss,...	ORPHA:361
Proteus Syndrome	Thymus hyperplasia, Abnormal dental enamel morphology, Testicular neoplasm, Cachexia, Enlarged po...	ORPHA:744
Phakomatosis Pigmentokeratotica	Cryptorchidism, Patchy alopecia, Pheochromocytoma, Hyperhidrosis	ORPHA:2874
Hutchinson-Gilford Progeria Syndrome	Absent eyebrow, Alopecia totalis, Osteoarthritis, Loss of eyelashes, Absence of subcutaneous fat,...	ORPHA:740
Liver Disease, Severe Congenital	Chronic gastritis, Dry hair, Biliary hyperplasia, Leukopenia, Hypocalcemia, Lymphocytosis, Elevat...	OMIM:619991
Hereditary Pheochromocytoma-Paraganglioma	Episodic hyperhidrosis, Extraadrenal pheochromocytoma, Weight loss, Adrenal pheochromocytoma	ORPHA:29072
Sapho Syndrome	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Edem...	ORPHA:793
Familial Gestational Hyperthyroidism	Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep...	ORPHA:99819
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Myositis, Pericarditis, Skin rash, Elevated circulating C-reactive protein concentrati...	ORPHA:32960
Craniopharyngioma	Enlarged pituitary gland, Neoplasm of the anterior pituitary, Pituitary hypothyroidism, Obesity, ...	ORPHA:54595
Chronic Beryllium Disease	Weight loss	ORPHA:133
Thyrotoxic Periodic Paralysis	Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi...	ORPHA:79102
Familial Pancreatic Carcinoma	Elevated hepatic transaminase, Pancreatic adenocarcinoma, Jaundice, Weight loss, Ovarian carcinom...	ORPHA:1333
Cap Polyposis	Weight loss	ORPHA:160148
Tropical Pancreatitis	Pancreatic adenocarcinoma, Jaundice, Weight loss, Chronic calcifying pancreatitis, Abnormal pancr...	ORPHA:103918
Hennekam Syndrome	Lymphopenia, Camptodactyly of finger, Sparse axillary hair, Lymphedema, Pericardial effusion, Spl...	ORPHA:2136
Polymyositis	Weight loss, Elevated circulating aldolase concentration	ORPHA:732
Malt Lymphoma	Weight loss, Hyperhidrosis	ORPHA:52417
Wiedemann-Rautenstrauch Syndrome	Decreased response to growth hormone stimulation test, Synophrys, Sparse hair, Acanthosis nigrica...	ORPHA:3455
Epidermodysplasia Verruciformis, Susceptibility To, 3	Epidermal acanthosis	OMIM:618267
Generalized Glucocorticoid Resistance Syndrome	Adrenal hyperplasia, Acne, Frontal balding, Hypokalemia, Increased circulating cortisol level, Hi...	ORPHA:786
Bronchial Neuroendocrine Tumor	Increased circulating cortisol level, Hepatic failure, Elevated circulating growth hormone concen...	ORPHA:97287
Idiopathic Bronchiectasis	Cachexia	ORPHA:60033
Primary Myelofibrosis	Increased circulating lactate dehydrogenase concentration, Cachexia, Portal hypertension	ORPHA:824
Kyphoscoliotic Ehlers-Danlos Syndrome	Inguinal hernia, Synophrys, Atypical scarring of skin, Follicular hyperkeratosis, Umbilical hernia	ORPHA:536545
Lymphoid Interstitial Pneumonia	Failure to thrive, Skin rash, Eczema, Weight loss	ORPHA:79128
Congenital Enterocyte Heparan Sulfate Deficiency	Weight loss	ORPHA:103910
Peritoneal Cystic Mesothelioma	Weight loss	ORPHA:168816
Monosomy 22Q13.3	Hyperactivity, Recurrent skin infections, Palpebral edema, Lymphedema, Hypoplastic toenails, Hair...	ORPHA:48652
Liposarcoma	Weight loss	ORPHA:69078
Alström Syndrome	Decreased response to growth hormone stimulation test, Hypoplasia of the Leydig cells, Otitis med...	ORPHA:64
Deafness-Lymphedema-Leukemia Syndrome	Weight loss	ORPHA:3226
Polycythemia Vera	Pruritus, Portal hypertension, Weight loss	ORPHA:729
Erdheim-Chester Disease	Weight loss, Skin rash, Hyperhidrosis	ORPHA:35687
Malignant Peritoneal Mesothelioma	Weight loss	ORPHA:168811
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Severe failure to thrive, Cachexia	ORPHA:371364
Polyarteritis Nodosa	Weight loss	ORPHA:767
Kawasaki Disease	Abnormality of nail color, Pericarditis, Skin rash, Edema, Myocarditis, Leukocytosis, Hepatitis, ...	ORPHA:2331
Ring Chromosome 10 Syndrome	Cachexia	ORPHA:1438
Alzahrani-Kuwahara Syndrome	Self-mutilation, Dry skin, Eczema	OMIM:619268
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Small for gestational age, Limb joint contracture, Decreased resting energy expenditure, Splenome...	ORPHA:404454
Classic Pantothenate Kinase-Associated Neurodegeneration	Weight loss	ORPHA:216866
Pulmonary Non-Tuberculous Mycobacterial Infection	Weight loss	ORPHA:411703
Tropical Endomyocardial Fibrosis	Eosinophilia, Cachexia, Splenomegaly, Pedal edema, Peripheral edema, Hypoalbuminemia, Ascites	ORPHA:75565
Gallbladder Neuroendocrine Tumor	Elevated alkaline phosphatase of hepatic origin, Weight loss, Elevated gamma-glutamyltransferase ...	ORPHA:100086
Mullerian Aplasia And Hyperandrogenism	Acne, Hirsutism	OMIM:158330
Postinfectious Vasculitis	Abnormal circulating protein concentration, Viral hepatitis, Inflammatory abnormality of the skin...	ORPHA:48435
Al Amyloidosis	Elevated circulating alkaline phosphatase concentration, Weight loss, Xerostomia, Abnormal saliva...	ORPHA:85443
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Weight loss	ORPHA:67
Neuroendocrine Tumor Of The Colon	Elevated hepatic transaminase, Weight loss	ORPHA:100080
Ppoma	Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Intrahepatic cholest...	ORPHA:97278
Neuropathy, Congenital Hypomyelinating, 3	Cachexia	OMIM:618186
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ...	ORPHA:2968
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss	ORPHA:79127
Cowden Syndrome	Enlarged polycystic ovaries, Palmoplantar keratoderma, Adenoma sebaceum, Lipoma, Failure to thriv...	ORPHA:201
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Cachexia	ORPHA:2774
Cryptogenic Organizing Pneumonia	Weight loss	ORPHA:1302
Junctional Epidermolysis Bullosa With Pyloric Atresia	Recurrent skin infections, Polyhydramnios, Urinary bladder inflammation, Nail dystrophy, Enamel h...	ORPHA:79403
Vexas Syndrome	Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C...	OMIM:301054
Infantile Krabbe Disease	Abnormal circulating enzyme concentration or activity, Failure to thrive, Cachexia	ORPHA:206436
Systemic Capillary Leak Syndrome	Pancreatitis, Weight loss	ORPHA:188
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Inguinal hernia, Recurrent pneumonia, Excessive wrinkled skin, Follicular hyperkeratosis, Palmopl...	OMIM:225400
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Jaundice, Acute pancreatitis, Weight loss	ORPHA:20
Perry Syndrome	Weight loss	OMIM:168605
Neuroendocrine Tumor Of The Rectum	Elevated hepatic transaminase, Weight loss	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Elevated hepatic transaminase, Weight loss	ORPHA:100082
Exercise-Induced Malignant Hyperthermia	Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia...	ORPHA:466650
Hereditary Amyloidosis With Primary Renal Involvement	Primary testicular failure, Decreased liver function, Abnormal testis morphology, Weight loss	ORPHA:85450
Nephroblastoma	Weight loss	ORPHA:654
Immunodeficiency 31C	Eczema, Chronic mucocutaneous candidiasis, Weight loss, Chronic oral candidiasis, Recurrent vulvo...	OMIM:614162
Diffuse Alveolar Hemorrhage	Weight loss	ORPHA:90060
Pelizaeus-Merzbacher Disease	Failure to thrive in infancy, Cachexia	ORPHA:702
Glucose-Galactose Malabsorption	Failure to thrive, Weight loss	ORPHA:35710
Adams-Oliver Syndrome 1	Alopecia, Small nail, Supernumerary nipple	OMIM:100300
8P23.1 Microdeletion Syndrome	Cryptorchidism, Obesity, Weight loss	ORPHA:251071
Klatskin Tumor	Jaundice, Weight loss	ORPHA:99978
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Decreased circulating cortisol level, Acne, Frontal balding, Hyperkalemia, Testicul...	ORPHA:90794
Autoimmune Pulmonary Alveolar Proteinosis	Increased circulating lactate dehydrogenase concentration, Weight loss	ORPHA:747
Congenital Tufting Enteropathy	Failure to thrive, Weight loss	ORPHA:92050
Cystinosis, Nephropathic	Hypopigmentation of hair, Failure to thrive in infancy, Weight loss, Hypohidrosis, Primary hypoth...	OMIM:219800
Oromandibular Dystonia	Weight loss	ORPHA:93958
Vascular Ehlers-Danlos Syndrome	Alopecia, Inguinal hernia, Redundant skin, Abnormality of hair texture, Abnormal eyelash morpholo...	ORPHA:286
Somatostatinoma	Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Intrahepatic cholest...	ORPHA:97283
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Alopecia, Cryptorchidism, Loss of eyelashes, Thin eyebrow, Sparse hair	ORPHA:2636
Q Fever	Elevated hepatic transaminase, Maculopapular exanthema, Hepatitis, Weight loss	ORPHA:781
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Rheumatoid Arthritis	Weight loss	OMIM:180300
Felty Syndrome	Weight loss	ORPHA:47612
Anemia, Congenital Dyserythropoietic, Type Iv	Increased circulating lactate dehydrogenase concentration, Hypothyroidism, Weight loss	OMIM:613673
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Ménétrier Disease	Weight loss	ORPHA:2494
Neuroblastoma, Susceptibility To, 1	Failure to thrive, Weight loss	OMIM:256700
Igg4-Related Retroperitoneal Fibrosis	Deep dermal perivascular inflammatory infiltrate, Psoriasiform dermatitis, Weight loss, Hydrocele...	ORPHA:49041
Laryngotracheoesophageal Cleft Type 4	Cachexia	ORPHA:93941
Vipoma	Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Intrahepatic cholest...	ORPHA:97282
De Sanctis-Cacchione Syndrome	Bilateral cryptorchidism, Parakeratosis, Keratitis, Conjunctivitis	OMIM:278800
Schwartz-Jampel Syndrome	Decreased testicular size, Abnormal eyebrow morphology, Decreased body weight, Cachexia, Low ante...	ORPHA:800
Seckel Syndrome	Sparse scalp hair, Cachexia	ORPHA:808
Mucolipidosis Type Ii	Weight loss, Dry hair, White hair, Fine hair	ORPHA:576
Warburg-Cinotti Syndrome	Ankle flexion contracture, Erythema, Elbow flexion contracture, Joint swelling, Follicular hyperk...	OMIM:618175
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Ano...	OMIM:619381
Stevens-Johnson Syndrome	Acute hepatic failure, Weight loss, Pancreatitis, Elevated hepatic transaminase	ORPHA:36426
Aicardi-Goutieres Syndrome 7	Skin rash, Chilblains, Atopic dermatitis, Hepatitis, Weight loss, Hypothyroidism	OMIM:615846
Toxic Epidermal Necrolysis	Acute hepatic failure, Weight loss, Pancreatitis, Elevated hepatic transaminase	ORPHA:537
Neuroendocrine Tumor Of Stomach	Elevated hepatic transaminase, Hepatic failure, Weight loss	ORPHA:100075
Zollinger-Ellison Syndrome	Hyperparathyroidism, Pituitary null cell adenoma, Elevated circulating growth hormone concentrati...	ORPHA:913
Ring Chromosome 13 Syndrome	Alopecia, Hypoplasia of the gallbladder	ORPHA:96176
Lynch Syndrome	Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Weight loss, Ovarian neop...	ORPHA:144
Primary Triglyceride Deposit Cardiomyovasculopathy	Inflammatory abnormality of the skin, Elevated circulating creatine kinase concentration, Splenom...	ORPHA:565612
Pancreatoblastoma	Jaundice, Pancreatic calcification, Weight loss	ORPHA:677
Acute Promyelocytic Leukemia	Weight loss	ORPHA:520
Imerslund-Gräsbeck Syndrome	Failure to thrive, Weight loss	ORPHA:35858
Familial Colorectal Cancer Type X	Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Weight loss, Ovarian neop...	ORPHA:440437
Blau Syndrome	Nongranulomatous uveitis, Pericarditis, Eczema, Camptodactyly of finger, Erythema nodosum, Uveiti...	OMIM:186580
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Inflammatory abnormality of the skin, Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocyto...	ORPHA:391487
Cockayne Syndrome	Elevated hepatic transaminase, Anhidrosis, Dry hair, Cachexia, Cryptorchidism, Fine hair, Malar rash	ORPHA:191
Solitary Fibrous Tumor	Weight loss	ORPHA:2126
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Multiple joint contractures, Recurrent pneumonia, Acute myelomonocytic leukemia, Dry skin, Failur...	ORPHA:99646
Focal Dermal Hypoplasia	Omphalocele, Ridged nail, Inguinal hernia, Brittle hair, Supernumerary nipple, Congenital diaphra...	OMIM:305600
Microsporidiosis	Cachexia, Abnormality of the parathyroid gland, Hepatitis, Thyroiditis, Weight loss, Prostatitis,...	ORPHA:2552
Primary Intestinal Lymphangiectasia	Weight loss	ORPHA:90362
Pallister-Killian Syndrome	Omphalocele, Sparse scalp hair, Alopecia, Inguinal hernia, Sparse eyelashes, Edema of the dorsum ...	OMIM:601803
Simple Cryoglobulinemia	Viral hepatitis, Weight loss	ORPHA:91139
X-Linked Creatine Transporter Deficiency	Cachexia	ORPHA:52503
Juvenile Amyotrophic Lateral Sclerosis	Cachexia	ORPHA:300605
Whipple Disease	Hypothyroidism, Cachexia	ORPHA:3452
Beta-Ketothiolase Deficiency	Weight loss	ORPHA:134
Malakoplakia	Inflammatory abnormality of the skin, Skin rash, Orchitis, Pruritus, Urinary bladder inflammation...	ORPHA:556
Pyomyositis	Recurrent cutaneous abscess formation, Weight loss, Testicular teratoma	ORPHA:764
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:603041
Thymoma	Weight loss	ORPHA:99867
Melkersson-Rosenthal Syndrome	Periorbital edema, Inflammatory abnormality of the skin, Cheilitis, Edema	ORPHA:2483
Rett Syndrome	Cachexia	OMIM:312750
Nijmegen Breakage Syndrome	Abnormal hair quantity, Low anterior hairline, Cachexia, Abnormal hair morphology	ORPHA:647
Glossopharyngeal Neuralgia	Weight loss	ORPHA:221098
Brucellosis	Small for gestational age, Orchitis, Weight loss, Hyperhidrosis, Failure to thrive	ORPHA:1304
Gerstmann-Straussler Disease	Weight loss	OMIM:137440
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Hyperkeratosis, Lymphedema	ORPHA:79280
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Ileal Neuroendocrine Tumor	Elevated hepatic transaminase, Hepatic failure, Weight loss	ORPHA:100078
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Pancreatic hypoplasia, Reduced pancreatic beta cells, Weight loss	ORPHA:99885
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Failure to thrive, Weight loss	ORPHA:1018
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Testicular neoplasm, Primary hyperparathyroidism, Abnormal parathyroid...	ORPHA:143
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Weight loss	OMIM:607459
Castleman Disease	Jaundice, Weight loss	ORPHA:160
Multiple Endocrine Neoplasia Type 1	Neoplasm of the pancreas, Pituitary null cell adenoma, Elevated circulating growth hormone concen...	ORPHA:652
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Xerostomia, Thyroiditis, Weight loss, Enlargement of parotid gland, Nod...	ORPHA:79078
Pseudoxanthoma Elasticum	Civatte bodies, Cutis laxa	OMIM:264800
Malignant Atrophic Papulosis	Weight loss	ORPHA:679
Granulomatosis With Polyangiitis	Prostatitis, Skin rash, Pancreatitis, Weight loss	ORPHA:900
Carney-Stratakis Syndrome	Weight loss	ORPHA:97286
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Perianal abscess, Skin rash, Weight loss	OMIM:301074
Pancreatic Triacylglycerol Lipase Deficiency	Exocrine pancreatic insufficiency, Weight loss	ORPHA:309031
Trisomy 18	Cryptorchidism, Abnormal toenail morphology, Cachexia	ORPHA:3380
Hereditary Late-Onset Parkinson Disease	Weight loss	ORPHA:411602
Bannayan-Riley-Ruvalcaba Syndrome	Hashimoto thyroiditis, Cachexia	ORPHA:109
Granulomatosis With Polyangiitis	Weight loss	OMIM:608710
Behçet Disease	Orchitis, Acne, Pancreatitis, Weight loss	ORPHA:117
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia	ORPHA:3217
Renal Nutcracker Syndrome	Weight loss	ORPHA:71273
Fanconi Anemia	Cryptorchidism, Abnormal testis morphology, Absent testis, Weight loss	ORPHA:84
Nocardiosis	Weight loss, Thyroiditis, Cutaneous abscess	ORPHA:31204
Congenital Fiber-Type Disproportion Myopathy	Failure to thrive, Weight loss	ORPHA:2020
Choreoacanthocytosis	Elevated circulating aspartate aminotransferase concentration, Abnormal erythrocyte enzyme level,...	ORPHA:2388
Oculopharyngodistal Myopathy 1	Weight loss	OMIM:164310
Multiple Myeloma	Weight loss	ORPHA:29073
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Weight loss	ORPHA:85408
Pulmonary Alveolar Microlithiasis	Testicular microlithiasis, Weight loss	ORPHA:60025
Camurati-Engelmann Disease	Slender build, Cachexia, Elevated circulating aldolase concentration	ORPHA:1328
Sarcoidosis, Susceptibility To, 1	Abnormal salivary gland morphology, Enlarged lacrimal glands, Weight loss	OMIM:181000
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Cachexia	ORPHA:1969
Juvenile Polyposis Of Infancy	Cachexia	ORPHA:79076
Marfan Syndrome	Slender build, Cachexia	ORPHA:558
Tubulointerstitial Nephritis And Uveitis Syndrome	Skin rash, Weight loss	ORPHA:91500
Primary Fanconi Renotubular Syndrome	Weight loss	ORPHA:3337
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Cholelithiasis, Cachexia	ORPHA:2072
Stickler Syndrome	Slender build, Cachexia	ORPHA:828
Norrie Disease	Cryptorchidism, Failure to thrive, Cachexia	ORPHA:649
Goodpasture Syndrome	Weight loss	OMIM:233450

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Acer1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Acer1.

There are 7 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Acer1^{tm1a(EUCOMM)Wtsi}	PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.	Nature immunology (December 2019)	Acer1^{tm1a(EUCOMM)Wtsi}	PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Acer1^{tm1a(EUCOMM)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Acer1^{tm1a(EUCOMM)Wtsi}	PMC6459510
Alkaline Ceramidase 1 Protects Mice from Premature Hair Loss by Maintaining the Homeostasis of Hair Follicle Stem Cells.	Stem cell reports (October 2017)	Acer1^{tm1(KOMP)Vlcg}	PMC5829345
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Acer1^{tm1a(EUCOMM)Wtsi} Acer1^{tm1a(EUCOMM)Wtsi}	PMC5827107
Alkaline ceramidase 1 is essential for mammalian skin homeostasis and regulating whole-body energy expenditure.	The Journal of pathology (May 2016)	Acer1^{tm1a(EUCOMM)Wtsi}	PMC4924601

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Acer1^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Acer1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Acer1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Acer1 MGI:2181962

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

Eye Morphology

Anti-nuclear antibody assay

X-ray

X-ray

DSS Histology

Ear epidermis immunophenotyping

Legacy Phenotype Associated Images

Human diseases caused by Acer1 mutations

Histopathology

IMPC related publications

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