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Gene: Mpzl3 MGI:2442647

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

myelin protein zero-like 3

Synonyms:

rc, A530065I17Rik, 5430427F17Rik, ruf

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No 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.

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.

Phenotype associated images not available

Human diseases caused by Mpzl3 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 Mpzl3 (0 diseases)
Human diseases predicted to be associated with Mpzl3 (2128 diseases)

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

The table below shows human diseases predicted to be associated to Mpzl3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Alopecia Areata 2	Alopecia universalis, Patchy alopecia, Alopecia of scalp, Alopecia totalis	OMIM:610753
Alopecia-Intellectual Disability Syndrome 1	Alopecia universalis, Alopecia	OMIM:203650
Alopecia Universalis Congenita	Alopecia universalis, Absent eyelashes, Absent eyebrow, Absent pubic hair, Absent axillary hair	OMIM:203655
Hypotrichosis Simplex	Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair	ORPHA:55654
Hypotrichosis 4	Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair	OMIM:146550
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Alopecia Areata 1	Alopecia universalis, Alopecia totalis, Patchy alopecia, Trachyonychia, Nail pits	OMIM:104000
Hypotrichosis 11	Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill...	OMIM:615059
Trichothiodystrophy 7, Nonphotosensitive	Tiger tail banding, Ichthyosis, Follicular hyperkeratosis, Brittle hair, Congenital nonbullous ic...	OMIM:618546
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Alopecia of scalp	OMIM:260910
Erythrokeratodermia Variabilis Et Progressiva 5	Abnormal hair morphology, Palmoplantar hyperkeratosis, Hyperkeratosis, Onychogryposis	OMIM:617756
Ectodermal Dysplasia 6, Hair/Nail Type	Alopecia, Sparse hair, Thin toenail, Dystrophic toenail	OMIM:614928
Hidrotic Ectodermal Dysplasia	Thickened skin, Small nail, Sparse eyelashes, Absent eyebrow, Absent axillary hair, Sparse hair, ...	ORPHA:189
Monilethrix	Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair,...	OMIM:158000
Graham Little-Piccardi-Lassueur Syndrome	Alopecia, Sparse axillary hair, Sparse pubic hair, Sparse scalp hair	ORPHA:505
Monilethrix	Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Follicular hyperkeratosis, Slow-growing ...	ORPHA:573
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Alopecia totalis	ORPHA:1014
Olmsted Syndrome 1	Alopecia universalis, Subungual hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis, Hyperpa...	OMIM:614594
Hypotrichosis 6	Sparse eyebrow, Sparse eyelashes, Pili torti, Follicular hyperkeratosis, Brittle hair, Sparse hair	OMIM:607903
Bathing Suit Ichthyosis	Thickened skin, Alopecia, Nail dystrophy, Ichthyosis, Multiple joint contractures, Parakeratosis,...	ORPHA:100976
Keratoderma Hereditarium Mutilans With Ichthyosis	Alopecia, Palmoplantar keratoderma, Orthokeratosis, Honeycomb palmoplantar hyperkeratosis, Hyperg...	ORPHA:79395
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	Ridged nail, Nail pits, Congenital alopecia totalis	ORPHA:169095
Ichthyosis, Annular Epidermolytic, 1	Erythema, Skin erosion, Orthokeratosis, Hyperparakeratosis, Abnormal hair morphology, Erythematou...	OMIM:607602
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Subungual hyperkeratosis, Orthokeratosis, Sparse lateral eyebrow, Eczematoid dermatitis, Acne inv...	OMIM:617337
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Leukonychia, Nail dysplasia, Brittle hair, Pl...	OMIM:104100
Erythrokeratodermia Variabilis Et Progressiva 6	Abnormal hair morphology, Erythematous plaque, Superficial dermal perivascular inflammatory infil...	OMIM:618531
Hypotrichosis Simplex Of The Scalp	Allergic rhinitis, Atopic dermatitis, Sparse scalp hair, Fine hair, Alopecia of scalp, Parakerato...	ORPHA:90368
Ectodermal Dysplasia 4, Hair/Nail Type	Abnormal sweat gland morphology, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dys...	OMIM:602032
Trichodysplasia-Xeroderma Syndrome	Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Trichodysplasia, P...	ORPHA:3361
Ichthyosis, Congenital, Autosomal Recessive 11	Sparse eyebrow, Congenital ichthyosiform erythroderma, Sparse body hair, Curly eyelashes, Curly h...	OMIM:602400
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Skin erosion, Dystrophic toenail, Nevus, Failure to thrive, Abnormal fingernail morphology, Atrop...	ORPHA:89838
Classic Mycosis Fungoides	Erythema, Alopecia, Hypopigmented skin patches, Skin ulcer, Eczematoid dermatitis, Dry skin, Skin...	ORPHA:2584
Parc Syndrome	Absent eyelashes, Alopecia, Absent eyebrow	OMIM:600331
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Sparse eyebrow, Sparse body hair, Abnormal fingernail morphology, Hypoplastic toenails,...	ORPHA:2722
Uncombable Hair Syndrome 3	Pili canaliculi, Brittle hair, Uncombable hair, Curly hair	OMIM:617252
Ringed Hair Disease	Abnormal hair pattern, Fine hair	ORPHA:169
Pili Bifurcati	Abnormal hair morphology, Abnormality of hair texture	ORPHA:720
Insulin-Resistance Syndrome Type A	Generalized hirsutism, Hyperkeratosis	ORPHA:2297
Ichthyosis, Congenital, Autosomal Recessive 1	Alopecia, Congenital ichthyosiform erythroderma, Nail dystrophy, Ichthyosis, Nail dysplasia, Para...	OMIM:242300
Ichthyosis With Erythrokeratoderma	Erythema, Palmoplantar keratoderma, Congenital ichthyosiform erythroderma, Leukonychia, Diffuse p...	OMIM:620507
Woolly Hair	Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality...	ORPHA:170
Pili Torti	Alopecia, Abnormal eyebrow morphology, Pili torti, Brittle hair, Abnormality of hair texture, Abn...	ORPHA:2889
Hypotrichosis With Juvenile Macular Degeneration	Fine hair, Pili torti, Brittle hair, Hyperkeratosis, Sparse scalp hair	ORPHA:1573
Bazex Syndrome	Yellow nails, Palmoplantar keratoderma, Liposarcoma, Nail dystrophy, Parakeratosis, Acanthosis ni...	ORPHA:166113
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Alopecia of scalp	OMIM:617294
Cole Disease	Hyperkeratotic papule, Palmoplantar keratoderma, Orthokeratosis, Hypergranulosis, Abnormal hair m...	OMIM:615522
Anonychia With Flexural Pigmentation	Abnormal hair morphology, Alopecia of scalp, Follicular hyperkeratosis, Anonychia, Hyperkeratosis	ORPHA:69125
Hypotrichosis 1	Sparse pubic hair, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axillary hair, Spar...	OMIM:605389
L-Ferritin Deficiency	Alopecia	OMIM:615604
Vohwinkel Syndrome, Variant Form	Orthokeratosis, Honeycomb palmoplantar hyperkeratosis, Hypergranulosis, Abnormal hair morphology,...	OMIM:604117
Crandall Syndrome	Alopecia, Fine hair, Sparse body hair, Brittle hair, Pili torti, Abnormal testis morphology, Apla...	ORPHA:202
Pruritic Urticarial Papules And Plaques Of Pregnancy	Pruritus on foot, Erythematous papule, Eczematoid dermatitis, Urticarial plaque, Pruritis on brea...	ORPHA:64745
Uncombable Hair Syndrome 2	Pili canaliculi, Uncombable hair	OMIM:617251
Angioma Serpiginosum, X-Linked	Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair	OMIM:300652
Olmsted Syndrome 2	Alopecia universalis, Cheilitis, Palmoplantar keratoderma, Perioral hyperkeratosis, Flexion contr...	OMIM:619208
Marie Unna Hereditary Hypotrichosis	Alopecia, Coarse hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse scal...	ORPHA:444
Hypotrichosis 7	Abnormal sweat gland morphology, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axill...	OMIM:604379
Hair Defect With Photosensitivity And Impaired Intellectual Development	Sparse eyebrow, Coarse hair, Sparse eyelashes, Brittle hair, Sparse hair	OMIM:234030
Pili Torti-Onychodysplasia Syndrome	Alopecia universalis, Alopecia, Palmoplantar keratoderma, Sparse body hair, Congenital onychodyst...	ORPHA:2890
Ulerythema Ophryogenesis	Hyperkeratotic papule, Erythematous papule, Sparse lateral eyebrow, Dermal atrophy, Dry skin, Fac...	ORPHA:3406
Ichthyosis Hystrix Of Curth-Macklin	Nail dystrophy, Ichthyosis, Diffuse palmoplantar hyperkeratosis, Flexion contracture, Recurrent s...	ORPHA:79503
Uncombable Hair Syndrome	Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Erythema, Palmoplantar keratoderma, Leukonychia, Nail dystrophy, Ichthyosis, Parakeratosis, Pruri...	OMIM:615821
Bjornstad Syndrome	Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Al...	OMIM:262000
Dissecting Cellulitis Of The Scalp	Cellulitis, Abnormal hair morphology, Recurrent skin infections, Subcutaneous nodule, Pruritus	ORPHA:345
Porokeratosis Plantaris Palmaris Et Disseminata	Hyperkeratotic papule, Porokeratosis, Palmoplantar hyperkeratosis, Skin plaque, Pruritus, Annular...	ORPHA:737
Ichthyosis, Congenital, Autosomal Recessive 6	Orthokeratosis, Palmoplantar keratoderma, Dry skin, Parakeratosis, Hypohidrosis, Erythroderma, Sc...	OMIM:612281
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Honeycomb palmoplantar hyperkeratosis, Nail dystrophy, Ichthyosis, Linear arrays of macular hyper...	OMIM:601952
Odontoonychodermal Dysplasia	Erythema, Dry hair, Sparse body hair, Dry skin, Follicular hyperkeratosis, Thin nail, Sparse eyeb...	OMIM:257980
Trichodysplasia-Amelogenesis Imperfecta Syndrome	Trichodysplasia, Alopecia of scalp	ORPHA:79129
Keratosis, Focal Palmoplantar And Gingival	Gingival hyperkeratosis, Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkerat...	OMIM:148730
Clouston Syndrome	Alopecia, Sparse eyebrow, Small nail, Fine hair, Alopecia totalis, Brittle hair, Nail dystrophy, ...	OMIM:129500
Lichen Planopilaris	Alopecia, Hypopigmented skin patches, Skin ulcer, Hepatitis, Abnormal fingernail morphology, Derm...	ORPHA:525
Hypertrichosis Lanuginosa Congenita	Congenital, generalized hypertrichosis, Double eyebrow	OMIM:145700
Trichodental Dysplasia	Sparse hair, Slow-growing hair, Fine hair, Brittle hair	OMIM:601453
Hypotrichosis 10	Sparse eyebrow, Sparse body hair, Sparse eyelashes, Abnormality of the nail, Sparse scalp hair	OMIM:614238
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Posterior blepharitis, Palmoplantar keratoderma, Alopecia totalis, Para...	OMIM:300918
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Alopecia, Sparse eyebrow, Orthokeratosis, Dry skin, Ichthyosis, Sclerosing cholangitis, Sparse ey...	OMIM:607626
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome	Abnormality of hair texture, Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the ey...	ORPHA:2891
Acrokeratoderma, Hereditary Papulotranslucent	Fine hair	OMIM:101840
Aquagenic Palmoplantar Keratoderma	Atopic dermatitis, Palmoplantar keratoderma, Orthokeratotic hyperkeratosis, Palmoplantar hyperhid...	ORPHA:498359
Peeling Skin Syndrome 4	Orthokeratosis, Palmoplantar keratoderma, Nail dystrophy, Ichthyosis, Scaling skin, Hyperkeratosis	OMIM:607936
Ectodermal Dysplasia 7, Hair/Nail Type	Abnormal sweat gland morphology, Alopecia, Sparse eyebrow, Dystrophic toenail, Sparse eyelashes, ...	OMIM:614929
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Woolly hair, Palmoplantar keratoderma	OMIM:610476
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Orthokeratosis, Palmoplantar keratoderma, Failure to thrive, Hypergranulosis, Psoriasiform dermat...	OMIM:615508
Parana Hard Skin Syndrome	Generalized hirsutism, Thickened skin, Hyperkeratosis	ORPHA:2812
Obesity Due To Prohormone Convertase I Deficiency	Hypopigmentation of the skin, Hypoglycemic seizures, Failure to thrive, Decreased response to gro...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Hypopigmentation of the skin, Hypoglycemic seizures, Failure to thrive, Decreased response to gro...	ORPHA:71526
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Sparse hair, Brittle hair, Hyperkeratosis, Coarse hair	ORPHA:1883
Candidiasis, Familial, 1	Alopecia	OMIM:114580
Atrichia With Papular Lesions	Sparse hair	OMIM:209500
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Alopecia, Nail dystrophy	OMIM:616487
Erythrokeratodermia Variabilis Et Progressiva 3	Erythema, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Leukonychia, Hyperkeratosis	OMIM:617525
Hypotrichosis 5	Abnormal sweat gland morphology, Alopecia, Thin eyebrow, Sparse eyelashes, Absent pubic hair, Abs...	OMIM:612841
Dystrophic Epidermolysis Bullosa Pruriginosa	Atrophic scars, Milia, Dermal atrophy, Nail dystrophy, Abnormal toenail morphology, Scarring, Ski...	ORPHA:89843
Palmoplantar Keratoderma And Congenital Alopecia 2	Camptodactyly of finger, Alopecia totalis, Dry skin, Nail dystrophy, Nail dysplasia, Facial eryth...	OMIM:212360
Netherton Syndrome	Allergic rhinitis, Brittle scalp hair, Sparse eyebrow, Eczematoid dermatitis, Failure to thrive, ...	OMIM:256500
Palmoplantar Keratoderma, Norrbotten Recessive Type	Recurrent cutaneous fungal infections, Papule, Palmoplantar keratoderma, Hyperkeratosis	OMIM:244850
Lipoid Proteinosis Of Urbach And Wiethe	Thickened skin, Skin erosion, Patchy alopecia, Scarring, Skin plaque, Papule, Hyperkeratosis	OMIM:247100
Thumb Deformity And Alopecia	Alopecia	OMIM:188150
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Hypermelanotic macule, Pruritus, Milia, Nail dystrophy, Hypomelanotic macule, Spotty hypopigmenta...	ORPHA:79399
Erythrokeratodermia Variabilis	Erythema, Alopecia, Abnormal hair morphology, Dry skin, Patchy palmoplantar hyperkeratosis, Skin ...	ORPHA:317
Acrokeratoelastoidosis Of Costa	Hyperkeratotic papule, Orthokeratosis, Hypergranulosis, Palmar hyperhidrosis, Piezogenic pedal pa...	ORPHA:38
Björnstad Syndrome	Alopecia, Brittle hair	ORPHA:123
Epidermolysis Bullosa Dystrophica, Pretibial	Atrophic scars, Pruritus, Hyperkeratosis, Nail dystrophy	OMIM:131850
Hyperinsulinism Due To Hnf1A Deficiency	Small for gestational age, Hypoglycemic seizures, Maturity-onset diabetes of the young, Hyperinsu...	ORPHA:324575
X-Linked Agammaglobulinemia	Cellulitis, Hypopigmented skin patches, Weight loss, Neutropenia, Recurrent cutaneous abscess for...	ORPHA:47
Chilblain Lupus	Discoid lupus rash, Inflammatory abnormality of the skin, Erythematous papule, Skin ulcer, Malar ...	ORPHA:90280
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Alopecia, Nail pits, Ridged nail, Nail dystrophy	OMIM:601705
Progeroid Syndrome, Petty Type	Failure to thrive, Umbilical hernia, Abnormal hair morphology, Intrauterine growth retardation, T...	ORPHA:2963
Peeling Skin Syndrome 6	Atopic dermatitis, Orthokeratosis, Dry skin, Parakeratosis, Scaling skin, Pruritus	OMIM:618084
Juvenile Hyaline Fibromatosis	Skeletal muscle atrophy, Skin ulcer, Abnormal hair morphology, Joint stiffness, Aplasia/Hypoplasi...	ORPHA:2028
Ichthyosis, Hystrix-Like, With Deafness	Sparse eyebrow, Palmoplantar keratoderma, Cobblestone-like hyperkeratosis, Ichthyosis, Sparse eye...	OMIM:602540
Carvajal Syndrome	Patchy palmoplantar hyperkeratosis, Woolly hair	ORPHA:65282
Pili Torti, Early-Onset	Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Co...	OMIM:261900
Trichothiodystrophy 6, Nonphotosensitive	Coronal craniosynostosis, Dry skin, Tiger tail banding, Mild intrauterine growth retardation, Slo...	OMIM:616943
Autosomal Dominant Epidermolytic Ichthyosis	Palmoplantar keratoderma, Skin ulcer, Ichthyosis, Weight loss, Erythroderma, Congenital bullous i...	ORPHA:312
Hypertrichosis, Congenital Generalized, 2	Hirsutism, Congenital, generalized hypertrichosis	OMIM:307150
Naxos Disease	Palmoplantar keratoderma, Acanthosis nigricans, Hyperhidrosis, Curly hair, Abnormality of hair te...	ORPHA:34217
Palmoplantar Keratoderma, Epidermolytic, 2	Palmoplantar hyperkeratosis, Curly hair	OMIM:620411
Trichohepatoenteric Syndrome 2	Sparse hair, Decreased circulating iron concentration, Failure to thrive, Trichorrhexis nodosa, I...	OMIM:614602
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Psoriasiform lesion, Erythematous plaque, Superficial dermal perivascular inflammatory infiltrate...	ORPHA:284426
Acrogeria	Irregular hyperpigmentation, Skin ulcer, Fine hair, Excessive wrinkled skin, Joint hypermobility,...	ORPHA:2500
Obesity Due To Melanocortin 4 Receptor Deficiency	Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity...	ORPHA:71529
Erythrokeratodermia Variabilis Et Progressiva 7	Woolly hair, Palmoplantar hyperkeratosis, Dystrophic toenail, Anhidrosis	OMIM:619209
Ichthyosis-Hypotrichosis Syndrome	Sparse hair	ORPHA:91132
Hypertrichosis, Anterior Cervical	Anterior cervical hypertrichosis	OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type	Congenital, generalized hypertrichosis	OMIM:145701
Ichthyosis, Congenital, Autosomal Recessive 5	Orthokeratosis, Palmoplantar keratoderma, White scaling skin, Parakeratosis, Erythroderma, Congen...	OMIM:604777
Sabinas Brittle Hair Syndrome	Dry hair, Nail dystrophy, Nail dysplasia, Brittle hair, Sparse hair	OMIM:211390
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Hypermethioninemia, Hypopigmentation of the skin, Limitation of joint mobility, Failure to thrive...	OMIM:236200
Ectodermal Dysplasia 13, Hair/Tooth Type	Sparse eyelashes, Thin eyebrow, Low anterior hairline, Brittle hair	OMIM:617392
Diffuse Palmoplantar Keratoderma, Bothnian Type	Erythema, Skin ulcer, Diffuse palmoplantar hyperkeratosis, Pruritus, Papule	ORPHA:2337
Ichthyosis, Congenital, Autosomal Recessive 9	Orthokeratosis, Hypergranulosis, Hypohidrosis, Erythroderma, Hyperkeratosis, Congenital nonbullou...	OMIM:615023
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Hyperkeratotic papule, Alopecia, Milia, Nail dystrophy, Hypomelanotic macule, Spotty hypopigmenta...	ORPHA:79397
Porokeratosis Of Mibelli	Aplasia/Hypoplasia of the skin, Pruritus, Hyperkeratosis, Porokeratosis	ORPHA:735
Ichthyosis, Annular Epidermolytic, 2	Erythema, Skin erosion, Orthokeratosis, Palmoplantar keratoderma, Ichthyosis, Palmoplantar hyperk...	OMIM:620148
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hyperinsul...	ORPHA:276580
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hyperinsul...	ORPHA:276575
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Erythematous...	OMIM:173200
Rothmund-Thomson Syndrome, Type 1	Recurrent otitis media, Nail dystrophy, Absent eyelashes, Hypothyroidism, Absent eyebrow, Hyperke...	OMIM:618625
Vulvovaginal Gingival Syndrome	Erythema, Skin erosion, Ridged nail, Parakeratosis, Pruritus	ORPHA:83453
Menkes Disease	Alopecia, Hypopigmentation of the skin, Intrauterine growth retardation, Joint hypermobility, Cut...	OMIM:309400
Palmoplantar Keratoderma, Nagashima Type	Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar hyperhidrosis, Hypergran...	OMIM:615598
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Palmoplantar keratoderma, Eczematoid dermatitis, Sparse body hair, Dry skin, Sparse eyelashes, Hy...	OMIM:618535
Infantile Myofibromatosis	Irregular hyperpigmentation, Limitation of joint mobility, Skin ulcer, Chondrocalcinosis, Abnorma...	ORPHA:2591
Congenital Smooth Muscle Hamartoma, With Or Without Hemihypertrophy	Hypertrichosis	OMIM:620470
Porokeratosis 3, Multiple Types	Parakeratosis, Nail dystrophy, Porokeratosis	OMIM:175900
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Yellow nails, Palmoplantar keratoderma, Hypergranulosis, Nail dystrophy, Onycholysis, Orthokerato...	OMIM:148700
Psoriasis 14, Pustular	Erythema, Psoriasiform dermatitis, Nail dystrophy, Pustule, Parakeratosis, Oligoarthritis, Cholan...	OMIM:614204
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Alopecia, Failure to thrive, Intrauterine growth retardation, Hyperpigmentation of the skin, Brit...	ORPHA:50812
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Absent nipple, Absent hair, Anhidrosis, Hypohidrosis, Brittle hair, Sparse hair	OMIM:614940
Immunodeficiency 58	Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Eczematoid dermatitis, Cutaneous abscess,...	OMIM:618131
Hyperinsulinism Due To Ucp2 Deficiency	Diffuse pancreatic islet hyperplasia, Hypoglycemic seizures, Recurrent hypoglycemia, Excessive in...	ORPHA:276556
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1	Follicular hyperkeratosis, Perioral hyperkeratosis, Palmoplantar keratoderma, Congenital bullous ...	OMIM:613000
Palmoplantar Keratoderma And Woolly Hair	Sparse eyebrow, Palmoplantar keratoderma, Sparse body hair, Leukonychia, Sparse eyelashes, Woolly...	OMIM:616099
Woolly Hair, Autosomal Recessive 3	Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair	OMIM:616760
Peeling Skin Syndrome 1	Onycholysis, Palmoplantar hyperhidrosis, Nail dystrophy, Brittle hair	OMIM:270300
Congenital Ichthyosiform Erythroderma	Alopecia, Palmoplantar keratoderma, Keratitis, Failure to thrive, Ichthyosis, Hypohidrosis, Eryth...	ORPHA:79394
Pachydermoperiostosis	Thickened skin, Palmoplantar keratoderma, Eczematoid dermatitis, Abnormal fingernail morphology, ...	ORPHA:2796
Ichthyosis, Congenital, Autosomal Recessive 13	Ichthyosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Hypergranulosis	OMIM:617574
Epidermolysis Bullosa Simplex 1C, Localized	Milia, Hyperkeratosis	OMIM:131800
Prolidase Deficiency	Erythema, Palmoplantar keratoderma, Skin ulcer, Abnormal fingernail morphology, Dry skin, White f...	ORPHA:742
Flynn-Aird Syndrome	Alopecia, Skeletal muscle atrophy, Skin ulcer, Dermal atrophy, Joint stiffness, Cachexia, Scolios...	ORPHA:2047
Hyperkeratosis Lenticularis Perstans	Skin ulcer, Hyperkeratosis lenticularis perstans, Aplasia/Hypoplasia of the skin, Pruritus, Papule	ORPHA:409
Trichothiodystrophy 1, Photosensitive	Small nail, Fine hair, Trichorrhexis nodosa, Dry skin, Tiger tail banding, Absence of subcutaneou...	OMIM:601675
Mal De Meleda	Erythema, Inflammatory abnormality of the skin, Palmoplantar keratoderma, Lichenoid skin lesion, ...	ORPHA:87503
Verrucous Hemangioma	Skin plaque, Hyperkeratotic papule, Inflammatory abnormality of the skin	ORPHA:464318
Kerion Celsi	Alopecia, Inflammatory abnormality of the skin, Recurrent skin infections, Recurrent cutaneous ab...	ORPHA:499
Dracunculiasis	Cellulitis, Skin ulcer, Skin rash, Arthritis, Subcutaneous nodule, Pruritus, Flexion contracture,...	ORPHA:231
Ichthyosis With Confetti	Hypertrichosis, Ichthyosis, Decreased body weight, Hypoplastic nipples, Palmoplantar hyperkeratos...	OMIM:609165
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Fine hair, Abnormal hair morphology, Abnormal fingernail morphology, Abnormal toenail m...	ORPHA:248
Congenital Panfollicular Nevus	Skin nodule, Hyperkeratosis, Verrucous papule	ORPHA:139414
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Alopecia universalis, Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair	ORPHA:1008
Ichthyosis, Lamellar, Autosomal Dominant	Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:146750
Ichthyosis, Congenital, Autosomal Recessive 8	Erythema, Orthokeratosis, Hypergranulosis, Ichthyosis, Hyperkeratosis	OMIM:613943
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Erythema, Alopecia, Thickened skin, Palmoplantar keratoderma, Skin ulcer, Abnormal fingernail mor...	ORPHA:659
Ectodermal Dysplasia-Syndactyly Syndrome 2	Palmoplantar keratoderma, Follicular hyperkeratosis, Hyperhidrosis, Sparse hair, Congenital bullo...	OMIM:613576
Woolly Hair, Autosomal Dominant	Dry hair, Coarse hair, Abnormal eyebrow morphology, Palmoplantar hyperkeratosis, Slow-growing hai...	OMIM:194300
Familial Reactive Perforating Collagenosis	Hyperkeratotic papule, Inflammatory abnormality of the skin, Erythematous papule, Crusting erythe...	ORPHA:79147
Obesity And Hypopigmentation	Hyperinsulinemia, Obesity, Hepatic steatosis, Polyphagia, Red hair	OMIM:620195
Moynahan Syndrome	Cachexia, Alopecia, Sparse hair, Hyperkeratosis	ORPHA:2574
Fibrodysplasia Ossificans Progressiva	Synostosis of joints, Abnormal vertebral morphology, Alopecia, Limitation of joint mobility, Fail...	ORPHA:337
Infantile Digital Fibromatosis	Skin nodule, Parakeratosis, Hyperkeratosis	ORPHA:199267
Copper Deficiency, Familial Benign	Seborrheic dermatitis, Early balding, Failure to thrive, Curly hair	OMIM:121270
Quinquaud Folliculitis Decalvans	Erythema, Abnormal hair morphology, Pustule, Patchy alopecia, Scarring alopecia of scalp, Scarrin...	ORPHA:346
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Sparse eyebrow, Dry hair, Sparse eyelashes, Nail dysplasia, Pili torti, Palmoplantar hyperkeratos...	OMIM:225060
Hyperkeratosis-Hyperpigmentation Syndrome	Papule, Multiple cafe-au-lait spots, Hyperkeratosis	ORPHA:1336
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Mottled pigmentation, Growth delay, Dermal atrophy, Generalized lipodystrophy, Decrease...	OMIM:608612
Bullous Dystrophy, Hereditary Macular Type	Alopecia totalis, Abnormality of the nail	OMIM:302000
Pityriasis Rubra Pilaris	Thickened skin, Subungual hyperkeratosis, Palmoplantar keratoderma, Eczematoid dermatitis, Ichthy...	ORPHA:2897
Hypotrichosis 8	Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ...	OMIM:278150
Psoriasis 2	Parakeratosis, Psoriasiform dermatitis, Hyperkeratosis, Scaling skin	OMIM:602723
Cervical Hypertrichosis With Underlying Kyphoscoliosis	Sacral hypertrichosis, Thoracic hypertrichosis, Lumbar hypertrichosis, Anterior cervical hypertri...	OMIM:117850
Focal Palmoplantar And Gingival Keratoderma	Subungual hyperkeratosis, Palmoplantar keratoderma, Abnormal fingernail morphology, Focal frictio...	ORPHA:2200
Cutis Laxa, Autosomal Recessive, Type Iia	Coarse hair, Failure to thrive, Intrauterine growth retardation, Redundant skin, Inguinal hernia,...	OMIM:219200
Schopf-Schulz-Passarge Syndrome	Palmoplantar keratoderma, Small nail, Poroma, Sparse body hair, Apocrine hidrocystoma, Dry skin, ...	OMIM:224750
Proliferating Trichilemmal Cyst	Skin ulcer, Sparse scalp hair, Epidermoid cyst	ORPHA:492
Syndromic Diarrhea	Dry skin, Lymphopenia, Ventricular septal defect, Bicuspid aortic valve, Hepatoblastoma, Cirrhosi...	ORPHA:84064
Chromomycosis	Hyperkeratotic papule, Atypical scarring of skin, Keratitis, Hypopigmented skin patches, Hyperpar...	ORPHA:182
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Onychogryposis of fingernail, Alopecia, Ridged fingernail, Palmoplantar keratoderma, Hypopigmente...	ORPHA:2251
Localized Epidermolysis Bullosa Simplex	Skin erosion, Erythematous papule, Atrophic scars, Milia, Nail dystrophy, Focal friction-related ...	ORPHA:79400
Pachyonychia Congenita	Onychogryposis of fingernail, Alopecia, Cutaneous cyst, Palmoplantar keratoderma, Epidermoid cyst...	ORPHA:2309
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Sparse eyebrow, Fine hair, Ridged nail, Sparse eyelashes, Hypohidrosis, Slow-growing hair, Sparse...	OMIM:129490
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Skin vesicle, Pruritus, Erythema migrans, Parakeratosis	ORPHA:158681
Flynn-Aird Syndrome	Alopecia, Dermal atrophy, Joint stiffness, Increased bone density with cystic changes, Alopecia o...	OMIM:136300
Epidermolytic Palmoplantar Keratoderma	Hypergranulosis, Abnormal fingernail morphology, Diffuse palmoplantar hyperkeratosis, Palmoplanta...	ORPHA:2199
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Erythema, Eczematoid dermatitis, Redundant skin, Seborrheic dermatitis, Palmoplantar hyperkeratos...	OMIM:259100
Woolly Hair-Skin Fragility Syndrome	Acantholysis, Woolly hair, Palmoplantar keratoderma	OMIM:620415
X-Linked Dominant Chondrodysplasia Punctata	Sparse eyebrow, Coarse hair, Hypoplastic cervical vertebrae, Epiphyseal stippling, Erythematous p...	ORPHA:35173
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia, Streak ovary	OMIM:241090
Kondoh Syndrome	Atopic dermatitis, Interphalangeal joint contracture of finger, Thick eyebrow, Knee flexion contr...	OMIM:606242
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Alopecia, Sparse eyebrow, Skeletal muscle atrophy, Erysipelas, Growth delay, Sparse eyelashes, El...	OMIM:615704
Immunodeficiency 51	Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous absc...	OMIM:613953
Reticulate Acropigmentation Of Kitamura	Hyperkeratosis, Macule	OMIM:615537
Coffin-Siris Syndrome 8	Eczematoid dermatitis, Failure to thrive, Hypertrichosis, Long eyelashes, Thick eyebrow, Cryptorc...	OMIM:618362
Atrophoderma Vermiculata	Hyperkeratotic papule, Erythema, Hypoplastic pilosebaceous units, Atrophic scars, Skin pit, Peria...	ORPHA:79100
Pseudopelade Of Brocq	Alopecia, Abnormal hair morphology, Aplasia/Hypoplasia of the eyebrow, Abnormality of the nail, S...	ORPHA:129
Trichothiodystrophy	Dry skin, Cryptorchidism, Ventricular septal defect, Neutropenia, Brittle hair, Split nail, Osteo...	ORPHA:33364
Lamellar Ichthyosis	Dry skin, Ichthyosis, Lack of skin elasticity, Erythroderma, Aplasia/Hypoplasia of the eyebrow, P...	ORPHA:313
Acquired Ichthyosis	Erythema, Palmoplantar keratoderma, Dry skin, Recurrent skin infections, Ichthyosis, Pruritus, Pa...	ORPHA:454
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Eczematoid dermatitis, Obesity, Ichthyosis, Cryptorchidism, Hernia of the abdominal wall, Aplasia...	ORPHA:3055
Trichohepatoenteric Syndrome 1	Cholestasis, Ventricular septal defect, Cirrhosis, Curly hair, Brittle hair, Hepatomegaly, Jaundi...	OMIM:222470
Ectodermal Dysplasia-Blindness Syndrome	Skin ulcer, Fine hair, Abnormal fingernail morphology, Hypohidrosis, Keratoconjunctivitis sicca, ...	ORPHA:1806
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Cellulitis, Osteopenia, Skin ulcer, Eczematoid dermatitis, Pruritus, Abnormal hair morphology, Os...	ORPHA:2314
Trichothiodystrophy 5, Nonphotosensitive	Sparse eyebrow, Reduced hair sulfur content, Panhypopituitarism, Tiger tail banding, Decreased te...	OMIM:300953
Palmoplantar Carcinoma, Multiple Self-Healing	Palmoplantar keratoderma, Nail dystrophy, Chronic rhinitis, Parakeratosis, Follicular hyperkeratosis	OMIM:615225
Seborrhea-Like Dermatitis With Psoriasiform Elements	Seborrheic dermatitis, Hyperkeratosis	OMIM:610227
Trichothiodystrophy 4, Nonphotosensitive	Sparse hair, Small nail, Trichorrhexis nodosa, Nail dystrophy, Concave nail, Sparse eyelashes, Na...	OMIM:234050
Sézary Syndrome	Alopecia, Irregular hyperpigmentation, Skeletal muscle atrophy, Palmoplantar keratoderma, Dry ski...	ORPHA:3162
Trichothiodystrophy 2, Photosensitive	Congenital nonbullous ichthyosiform erythroderma, Tiger tail banding, Coarse hair, Ichthyosis	OMIM:616390
Keratoderma Hereditarium Mutilans	Alopecia, Honeycomb palmoplantar hyperkeratosis, Ichthyosis, Abnormal toenail morphology, Papule,...	ORPHA:494
Dowling-Degos Disease 2	Hyperkeratotic papule, Follicular hyperkeratosis, Hypomelanotic macule	OMIM:615327
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Fine hair, Fragile nails	ORPHA:500166
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Atypical scarring of skin, Palmoplantar keratoderma, Alopecia totalis, Nail dystrophy, Lack of sk...	ORPHA:1366
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased response to growth hormone stimulation test, Cholestasis, Adrenal insufficiency, Hyperb...	OMIM:609734
Hypohidrotic Ectodermal Dysplasia	Generalized hypopigmentation of hair, Xerostomia, Eczematoid dermatitis, Failure to thrive, Breas...	ORPHA:238468
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Localized skin lesion, Atypical scarring of skin, Keloids, Erythematous papule, Small nail, Hyper...	ORPHA:79410
Chronic Mucocutaneous Candidiasis	Erythema, Cheilitis, Skin ulcer, Hepatitis, Abnormal fingernail morphology, Abnormal dental ename...	ORPHA:1334
Hemihyperplasia-Multiple Lipomatosis Syndrome	Nevus, Hyperparakeratosis, Multiple lipomas, Seborrheic dermatitis, Ovarian serous cystadenoma, H...	ORPHA:276280
Necrobiosis Lipoidica	Erythema, Indurated nodule, Inflammatory abnormality of the skin, Skin ulcer, Skin nodule, Atroph...	ORPHA:542592
Palmoplantar Keratoderma, Punctate Type Iii	Acrokeratosis, Hyperkeratosis	OMIM:101850
Erythrokeratoderma ''En Cocardes''	Papule, Hyperkeratosis	ORPHA:315
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Woolly hair, Sparse hair	OMIM:278200
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Alopecia, Sparse eyebrow, Dystrophic toenail, Fine hair, Dystrophic fingernails, Hypothyroidism, ...	ORPHA:1882
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Folliculitis, Keratitis, Nail dystrophy, Spar...	OMIM:612843
Monosomy 22	Thickened skin, Contractures of the large joints, Scleroderma, Aplasia of the thymus, Seborrheic ...	ORPHA:96123
Ichthyosis, Congenital, Autosomal Recessive 2	Alopecia, Palmoplantar keratoderma, Small nail, Congenital ichthyosiform erythroderma, Hypergranu...	OMIM:242100
Dyskeratosis Congenita	Periodontitis, Hypopigmented skin patches, White hair, Premature graying of hair, Cirrhosis, Hepa...	ORPHA:1775
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Erythema, Alopecia, Orthokeratosis, Nevus, Small nail, Congenital ichthyosiform erythroderma, Umb...	OMIM:308050
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Parakeratosis, Subcutaneous nodule, Hyperkeratosis	OMIM:618339
Idiopathic Trachyonychia	Atopic dermatitis, Toenail dysplasia, Fingernail dysplasia, Ridged nail, Nail dystrophy, Ichthyos...	ORPHA:79153
Hidrotic Ectodermal Dysplasia, Halal Type	Supernumerary nipple, Sparse body hair, Abnormal fingernail morphology, Abnormal toenail morpholo...	ORPHA:1809
Prolidase Deficiency	Recurrent pneumonia, Skin ulcer, Eczematoid dermatitis, Failure to thrive, Facial hirsutism, Elev...	OMIM:170100
Witkop Syndrome	Abnormal sweat gland morphology, Fine hair, Ridged nail, Concave nail, Hypoplastic fifth toenail,...	OMIM:189500
Cardiofaciocutaneous Syndrome	Dry skin, Cryptorchidism, Excessive wrinkled skin, Low posterior hairline, Short neck, Atrial sep...	ORPHA:1340
Trichothiodystrophy 3, Photosensitive	Congenital ichthyosiform erythroderma, Bilateral cryptorchidism, Trichorrhexis nodosa, Tiger tail...	OMIM:616395
Erosive Pustular Dermatosis Of The Scalp	Erythema, Skin erosion, Abnormal hair morphology, Pustule, Scarring alopecia of scalp	ORPHA:222
Mucolipidosis Ii Alpha/Beta	Atlantoaxial dislocation, Hypoplasia of the odontoid process, Limitation of joint mobility, Recur...	OMIM:252500
Darier Disease	Thickened skin, Plantar pits, Palmoplantar keratoderma, Abnormal hair morphology, Subungual hyper...	ORPHA:218
Ectodermal Dysplasia-Syndactyly Syndrome 1	Alopecia, Coarse hair, Small nail, Hypoplastic toenails, Sparse eyelashes, Patchy alopecia, Pili ...	OMIM:613573
Isolated Agammaglobulinemia	Pneumonia, Cellulitis, Skin ulcer, Failure to thrive, Abnormal lymphocyte morphology, Otitis medi...	ORPHA:229717
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Erythema, Atopic dermatitis, Dry skin, Palmoplantar scaling skin, Diffuse palmoplantar hyperkerat...	ORPHA:530838
Ichthyosis Prematurity Syndrome	Allergic rhinitis, Alopecia of scalp, Follicular hyperkeratosis, Erythroderma, Generalized ichthy...	OMIM:608649
Congenital Disorder Of Glycosylation, Type Iq	Eczematoid dermatitis, Failure to thrive, Hypertrichosis, Dry skin, Ichthyosis, Cutis laxa, Hyper...	OMIM:612379
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Coarse hair, Nail dystrophy, Abnormality of the anterior pituitary, Brittle hair, Poste...	ORPHA:75389
Chilblain Lupus 1	Chilblains, Skin ulcer, Abnormality of the nail	OMIM:610448
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema	ORPHA:86923
Lipoid Proteinosis	Acne, Thickened skin, Alopecia of scalp, Pustule, Scarring, Subcutaneous nodule, Papule, Hyperker...	ORPHA:530
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyebrow, Folliculitis, Palmoplantar keratoderma, Keratitis, Dry skin, Nail dystrophy, Spar...	OMIM:308800
Palmoplantar Keratoderma, Punctate Type Ia	Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis	OMIM:148600
Dermatoleukodystrophy	Thickened skin, Hyperkeratosis	ORPHA:1659
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Iris hypopigmentation, Broad-based gait, Hypopigmentation of the skin, Inappropriate laughter, Ob...	ORPHA:411515
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Sparse eyebrow, Congenital alopecia totalis, Generalized hyperkeratosis, Dry skin, Alopecia of sc...	ORPHA:2269
Oliver-Mcfarlane Syndrome	Severe short stature, Alopecia, Pigmentary retinopathy, Distal amyotrophy, Central heterochromia,...	OMIM:275400
Hypotrichosis 12	Abnormal sweat gland morphology, Sparse pubic hair, Dry hair, Sparse or absent eyelashes, Sparse ...	OMIM:615885
Werner Syndrome	Premature graying of hair, Slender build, White forelock, Hyperkeratosis, Aplasia/Hypoplasia of t...	ORPHA:902
Epidermolysis Bullosa, Junctional 5A, Intermediate	Alopecia of scalp, Nail dystrophy, Onychogryposis, Absent pubic hair, Absent axillary hair, Onych...	OMIM:619816
Ichthyosis Hystrix, Lambert Type	Orthokeratotic hyperkeratosis, Hyperkeratosis	OMIM:146600
Phoar2-Enteropathy Syndrome	Thickened skin, Seborrheic dermatitis, Acne, Hyperhidrosis	OMIM:614441
Body Mass Index Quantitative Trait Locus 19	Insulin resistance, Increased serum leptin, Hyperinsulinemia, Obesity, Hyperlipidemia, Polyphagia...	OMIM:617885
Bazex-Dupre-Christol Syndrome	Atopic dermatitis, Coarse hair, Nevus, Eczematoid dermatitis, Acne inversa, Trichorrhexis nodosa,...	OMIM:301845
Elastosis Perforans Serpiginosa	Hyperkeratotic papule, Erythematous papule, Skin-colored papule, Crusting erythematous dermatitis...	ORPHA:79148
Oculoskeletodental Syndrome	Elbow flexion contracture, Splenomegaly, Hypocalcemia, Low anterior hairline, Low posterior hairl...	OMIM:618440
Incontinentia Pigmenti	Erythema, Hypopigmented skin patches, Supernumerary nipple, Abnormal hair morphology, Abnormal to...	ORPHA:464
Trichodermodysplasia-Dental Alterations Syndrome	Palmoplantar keratoderma, Sparse lateral eyebrow, Fine hair, Adenoma sebaceum, Aplasia/Hypoplasia...	ORPHA:3353
Hypodontia-Dysplasia Of Nails Syndrome	Ridged fingernail, Thin toenail, Fine hair, Hypoplastic fingernail, Abnormal fingernail morpholog...	ORPHA:2228
Punctate Palmoplantar Keratoderma Type 1	Hyperkeratotic papule, Palmoplantar keratoderma, Orthokeratosis, Hypergranulosis, Pancreatic aden...	ORPHA:79501
Palmoplantar Keratoderma-Deafness Syndrome	Palmoplantar keratoderma, Hyperkeratosis	ORPHA:2202
Obesity Due To Congenital Leptin Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:66628
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Recurrent fever, Hyperleucinemia, Hyperammonemia, Decreased body weight, Polyp...	OMIM:620085
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Platyspondyly, Hypopigmentation of the skin, Pallor, Albinism, Osteoporosis, Hypopigmentation of ...	ORPHA:2786
Dermatofibrosarcoma Protuberans	Erythema, Subcutaneous nodule, Skin ulcer, Thickened skin	ORPHA:31112
Jaberi-Elahi Syndrome	Sparse eyebrow, Failure to thrive, Fine hair, Joint stiffness, Sparse eyelashes, Joint hypermobil...	OMIM:617988
Beta-Thalassemia	Cholelithiasis, Skin ulcer, Hepatitis, Hypertrophic cardiomyopathy, Microcytic anemia, Pallor, Ab...	ORPHA:848
Dermatitis, Atopic	Allergic rhinitis, Atopic dermatitis, Eczematoid dermatitis, Pruritus, Dry skin, Pallor, Ichthyos...	OMIM:603165
Obesity Due To Leptin Receptor Gene Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:179494
Acrokeratosis Verruciformis Of Hopf	Hypergranulosis, Leukonychia, Nail dystrophy, Anonychia, Punctate palmoplantar hyperkeratosis, Hy...	ORPHA:79151
Cortisone Reductase Deficiency 1	Alopecia, Hirsutism	OMIM:604931
Porphyria Cutanea Tarda	Portal inflammation, Hepatic steatosis, Decreased circulating hepcidin concentration, Hypopigment...	ORPHA:101330
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Palmoplantar keratoderma, Abnormal circulating lipid concentration, Premature graying of hair, Ab...	ORPHA:1979
Neonatal Lupus Erythematosus	Malar rash, Erythematous plaque, Skin rash, Parakeratosis, Maculopapular exanthema, Hyperkeratosis	ORPHA:398124
Ichthyosis, Congenital, Autosomal Recessive 10	Palmoplantar keratoderma, Hypergranulosis, Orthokeratotic hyperkeratosis, Erythroderma, Generaliz...	OMIM:615024
Winchester Syndrome	Carpal osteolysis, Osteolysis involving tarsal bones, Hirsutism, Generalized osteoporosis, Subcut...	OMIM:277950
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Skeletal muscle atrophy, Failure to thrive, Methylmalonic aciduria, Hypoglycemia, Elevated circul...	OMIM:245400
Lipodystrophy, Congenital Generalized, Type 1	Hyperinsulinemia, Hepatic steatosis, Reduced subcutaneous adipose tissue, Polycystic ovaries, Pol...	OMIM:608594
Ichthyosis Vulgaris	Ichthyosis, Dry skin, Eczematoid dermatitis	OMIM:146700
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant	Palmoplantar keratoderma, Generalized hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplant...	OMIM:620150
Free Sialic Acid Storage Disease	Iris hypopigmentation, Skin ulcer, Failure to thrive in infancy, Splenomegaly, Aplasia/Hypoplasia...	ORPHA:834
Epidermodysplasia Verruciformis	Hypopigmented skin patches, Recurrent skin infections, Pustule, Seborrheic dermatitis, Multiple c...	ORPHA:302
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Alopecia, Elevated circulating hepatic...	OMIM:242150
Netherton Syndrome	Sparse eyebrow, Eczematoid dermatitis, Fine hair, Abnormal hair morphology, Trichorrhexis nodosa,...	ORPHA:634
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Sparse hair, Cryptorchidism, Fine hair	ORPHA:1174
Prader-Willi Syndrome Due To Imprinting Mutation	Iris hypopigmentation, Hypopigmentation of the skin, Obesity, Hypogonadotropic hypogonadism, Poly...	ORPHA:177910
Ichthyosis, Congenital, Autosomal Recessive 14	Erythema, Orthokeratotic hyperkeratosis, Scaling skin, Pruritus, Hyperkeratosis, Congenital nonbu...	OMIM:617571
Leptin Deficiency Or Dysfunction	Hypogonadism, Decreased testicular size, Obesity, Polyphagia, Micropenis, Decreased serum leptin	OMIM:614962
Griscelli Syndrome	Silver-gray hair, Iris hypopigmentation, Bone marrow hypocellularity, Hypopigmented skin patches,...	ORPHA:381
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Xerostomia, Dry skin, Ichthyosis, Parakeratosis, Acanthosis nigricans, Hyperkeratosis	OMIM:618527
Huntington Disease	Decreased body mass index, Abnormal circulating cholesterol concentration, Oral-pharyngeal dyspha...	ORPHA:399
Dermatoosteolysis, Kirghizian Type	Keratitis, Dystrophic toenail, Skin ulcer, Osteolysis, Aplasia/Hypoplasia of the skin, Dystrophic...	ORPHA:1657
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Alopecia, Recurrent pneumonia, Recurrent sinusitis, Pyoderma gangrenosum, Rec...	OMIM:616576
Rhizomelic Chondrodysplasia Punctata, Type 1	Severe short stature, Alopecia, Rhizomelia, Elevated circulating phytanic acid concentration, Epi...	OMIM:215100
Porokeratosis 7, Multiple Types	Parakeratosis, Porokeratosis	OMIM:614714
Porokeratosis 1, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175800
Microcephalic Primordial Dwarfism, Montreal Type	Severe short stature, Premature graying of hair, Dry skin, Alopecia of scalp, Cryptorchidism, Ver...	ORPHA:2617
Epidermolysis Bullosa, Junctional 1A, Intermediate	Camptodactyly of finger, Palmar hyperhidrosis, Nail dystrophy, Patchy alopecia, Enamel hypoplasia...	OMIM:226650
Idiopathic Congenital Hypothyroidism	Neonatal hyperbilirubinemia, Elevated circulating thyroid-stimulating hormone concentration, Umbi...	ORPHA:95717
Pemphigus Vulgaris	Atypical scarring of skin, Urticarial plaque, Alopecia of scalp, Weight loss, Acantholysis, Recur...	ORPHA:704
Hawkinsinuria	Hypothyroidism, Sparse hair, Fine hair	ORPHA:2118
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection	Pyoderma gangrenosum, Chronic furunculosis, Cutaneous abscess	OMIM:619986
Dominant Beta-Thalassemia	Hypoplasia of the musculature, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of...	ORPHA:231226
Ichthyosis With Alopecia, Eclabium, Ectropion, And Impaired Intellectual Development	Alopecia	OMIM:242510
Hypotonia-Cystinuria Syndrome	Cystine crystalluria, Failure to thrive, Decreased response to growth hormone stimulation test, L...	OMIM:606407
Amelo-Onycho-Hypohidrotic Syndrome	Fine hair, Abnormal fingernail morphology, Hypoplastic toenails, Onycholysis, Hypohidrosis, Hyper...	ORPHA:1028
Omenn Syndrome	Pneumonia, Alopecia, Failure to thrive, Dry skin, Abnormal lymphocyte morphology, Leukocytosis, S...	ORPHA:39041
Centrifugal Lipodystrophy	Erythema, Alopecia, Inflammatory abnormality of the skin, Lymphadenitis, Absence of subcutaneous ...	ORPHA:90156
Variegate Porphyria, Childhood-Onset	Atopic dermatitis, Skin erosion, Milia, Scarring, Epidermal hyperkeratosis	OMIM:620483
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Hyperkeratosis	OMIM:615028
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Postnatal growth retardation, Joint stiffness, Bicoronal synostosis, Intrauterine growth retardat...	OMIM:619184
Pachyonychia Congenita 2	Sparse eyebrow, Dry hair, Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Palmoplantar ...	OMIM:167210
Lipodystrophy, Congenital Generalized, Type 3	Generalized lipodystrophy, Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hirsutism, Hypoca...	OMIM:612526
Lipodystrophy, Congenital Generalized, Type 2	Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Reduced subcutaneous adipose tiss...	OMIM:269700
Hatipoglu Immunodeficiency Syndrome	Hyperpigmented/hypopigmented macules, Atopic dermatitis, Thickened skin, Fair hair, Eczematoid de...	OMIM:620331
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Cholelithiasis, Coarse hair, Pancreatic hypoplasia, Eczematoid dermatitis, Failure to thrive, Con...	ORPHA:83617
Isolated Thyroid-Stimulating Hormone Deficiency	Increased pituitary glycoprotein hormone alpha subunit level, Neonatal hyperbilirubinemia, Failur...	ORPHA:90674
Biotinidase Deficiency	Alopecia, Skin rash, Seborrheic dermatitis, Conjunctivitis, Recurrent skin infections	OMIM:253260
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Mottled pigmentation, Elevated circulating thyroid-stimulating hormone concentration, Goiter, Umb...	ORPHA:226313
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Atopic dermatitis, Alopecia, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chron...	OMIM:618282
Alopecia Totalis	Alopecia totalis, Alopecia of scalp, Onycholysis, Trachyonychia, Nail pits, Fragile nails	ORPHA:700
Dowling-Degos Disease	Palmar pits, Hyperkeratotic papule, Erythematous papule, Epidermoid cyst, Acne inversa, Hyperpigm...	ORPHA:79145
Alpha-Heavy Chain Disease	Alopecia, Splenomegaly, Hypocalcemia, Hepatomegaly, Lymphadenopathy, Anemia, Growth delay	ORPHA:100025
Porphyria Cutanea Tarda	Alopecia, Onycholysis, Facial hypertrichosis	OMIM:176100
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Woolly hair, Palmoplantar keratoderma	OMIM:611528
Choroidal Atrophy-Alopecia Syndrome	Ridged fingernail, Fine hair, Supernumerary nipple, Abnormal fingernail morphology, Thin eyebrow,...	ORPHA:1433
Hereditary Sensory And Autonomic Neuropathy Type 1	Osteomyelitis, Hyperkeratosis, Skin ulcer, Penetrating foot ulcers	ORPHA:36386
Acrodermatitis Enteropathica	Erythema, Alopecia, Ridged fingernail, Blepharitis, Skin ulcer, Failure to thrive, Abnormal eyebr...	ORPHA:37
Obesity Due To Sim1 Deficiency	Hyperinsulinemia, Glucose intolerance, Obesity, Polyphagia, Attention deficit hyperactivity disorder	ORPHA:369873
Meige Disease	Cellulitis, Atypical scarring of skin, Skin erosion, Skin ulcer, Cobblestone-like hyperkeratosis,...	ORPHA:90186
Acral Peeling Skin Syndrome	Erythema, Skin erosion, Eczematoid dermatitis, Excessive wrinkling of palmar skin, Ichthyosis, Ma...	ORPHA:263534
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Eczematoid dermatitis, Sparse body hair, Abnormal fingernail morphology, Hypohidrosis, Sparse hai...	ORPHA:1810
Acquired Hypertrichosis Lanuginosa	Thickened skin, Fine hair, Abnormal eyebrow morphology, Ichthyosis, Generalized hirsutism, Acanth...	ORPHA:2221
Brachycephaly, Trichomegaly, And Developmental Delay	Highly arched eyebrow, Long eyelashes, Thick eyebrow, Brittle hair, Synophrys	OMIM:617412
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Aggressive behavior, Hyperinsulinemia, Polyphagia, Obesity	ORPHA:329249
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Alopecia, Neonatal hyperbilirubinemia, Pigmentary retinopathy, Decreased response to growth hormo...	ORPHA:3363
Craniolenticulosutural Dysplasia	Coarse hair, Posterior wedging of vertebral bodies, Decreased skull ossification, Joint hypermobi...	ORPHA:50814
Leishmaniasis	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Skin ulcer, Pancytopeni...	ORPHA:507
Graves Disease	Graves disease, Goiter, Increased circulating free T3, Polyphagia, Onycholysis, Weight loss, Incr...	OMIM:275000
Temple Syndrome	Precocious puberty, Recurrent hypoglycemia, Decreased response to growth hormone stimulation test...	ORPHA:254516
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Lipid accumulation in hepatocytes, Elevated circulating alanine aminotransferase concentration, H...	OMIM:608836
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Uncombable Hair Syndrome 1	Dry hair, Pili canaliculi, Uncombable hair	OMIM:191480
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Alopecia, Seborrheic dermatitis, Failure to thrive	OMIM:210210
Idiopathic Localized Lipodystrophy	Erythema, Inflammatory abnormality of the skin, Absence of subcutaneous fat, Reduced subcutaneous...	ORPHA:90158
Pseudoprogeria Syndrome	Alopecia, Sparse eyebrow, Failure to thrive, Joint stiffness, Decreased body weight, Absent eyela...	ORPHA:2985
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Sparse body hair, Dry skin, Sparse eyelashes, Absent eyelashes, Absent eyebrow, Brittle hair, Spa...	OMIM:305100
Erythrokeratodermia Variabilis Et Progressiva 4	Erythema, Palmoplantar hyperkeratosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythr...	OMIM:617526
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Thickened skin, Seborrheic dermatitis, Acne, Hyperhidrosis	OMIM:167100
Hajdu-Cheney Syndrome	Aortic valve stenosis, Periodontitis, Dry skin, Decreased skull ossification, Generalized hirsuti...	ORPHA:955
Phenylketonuria	Dry skin, Eczematoid dermatitis, Fair hair, Scleroderma	OMIM:261600
14Q11.2 Microduplication Syndrome	Highly arched eyebrow, Obesity, Polyphagia, Attention deficit hyperactivity disorder, Hypothyroid...	ORPHA:261229
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Sparse eyebrow, Hypertrophic cardiomyopathy, Hypocholesterolemia, Brittle hair, Hepatomegaly, Hyd...	OMIM:618810
Hypotrichosis 13	Abnormal sweat gland morphology, Sparse hair, Woolly hair, Sparse eyelashes	OMIM:615896
Schaaf-Yang Syndrome	Hypogonadism, Inability to walk, Failure to thrive in infancy, Thick eyebrow, Obesity, Cryptorchi...	OMIM:615547
Joubert Syndrome 10	Recurrent fever, Frequent temper tantrums, Obesity, Dysmetria, Hirsutism, Decreased body weight, ...	OMIM:300804
Glycogen Storage Disease Vi	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Failure to thrive in infan...	OMIM:232700
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Inflammation of the large intestine, Lymphadenitis, Cholestasis, Erythroderma, Hepatomegaly, Hypo...	OMIM:615895
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Oculoskeletodental Syndrome	Abnormality of the frontal hairline, Hypocalcemia, Enamel hypoplasia, Hyperlordosis, Short statur...	ORPHA:557003
Woolly Hair Nevus	Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Curly hair, Patchy hypopig...	ORPHA:79414
Congenital Disorder Of Glycosylation, Type Im	Alopecia, Sparse eyebrow, Inflammatory abnormality of the skin, Failure to thrive, Dry skin, Icht...	OMIM:610768
Hepatorenocardiac Degenerative Fibrosis	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hyperechogeni...	OMIM:619902
Ramon Syndrome	Generalized hirsutism, Hyperkeratosis, Failure to thrive, Abnormal dental enamel morphology	ORPHA:3019
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Cellulitis, Alopecia universalis, Decreased proportion of CD4+CD25+ regulatory T cells, Eczematoi...	OMIM:606367
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Cellulitis, Elbow flexion contracture, Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Knee ...	OMIM:604416
Marshall-Smith Syndrome	Atlantoaxial dislocation, Hypoplasia of the odontoid process, Aspiration pneumonia, Cryptorchidis...	OMIM:602535
Reticular Dysgenesis	Skin ulcer, Aplasia/Hypoplasia of the thymus, Failure to thrive, Leukopenia, Skin rash, Weight lo...	ORPHA:33355
Zinc Deficiency, Transient Neonatal	Alopecia	OMIM:608118
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Alopecia, Toenail dysplasia, Abnormal fingernail morphology, Fingernail dysplasia, Hypoplastic to...	ORPHA:2325
Hypotrichosis And Recurrent Skin Vesicles	Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Sparse axillary hair, Skin vesic...	OMIM:613102
White Sponge Nevus 2	Hyperparakeratosis	OMIM:615785
Aplasia Cutis Congenita	Erythema, Skin ulcer, Aplasia cutis congenita, Aplasia cutis congenita over the scalp vertex, Con...	ORPHA:1114
Alopecia-Intellectual Disability Syndrome 4	Alopecia, Erythroderma, Ichthyosis, Bilateral cryptorchidism	OMIM:618840
Squalene Synthase Deficiency	Elevated urine mesaconic acid level, Bilateral cryptorchidism, Elbow flexion contracture, Hypocho...	OMIM:618156
Recessive X-Linked Ichthyosis	Dry skin, Ichthyosis, Cryptorchidism, Hypohidrosis, Hyperkeratosis	ORPHA:461
Hydroa Vacciniforme	Papulovesicular eruption, Erythema, Keratitis, Eczematoid dermatitis, Malar rash, Superficial der...	ORPHA:330058
Familial Thyroid Dyshormonogenesis	Thyroid defect in oxidation and organification of iodide, Neonatal hyperbilirubinemia, Elevated c...	ORPHA:95716
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Failure to thrive, Palmoplantar scaling skin,...	OMIM:605676
Noonan Syndrome 8	Eczematoid dermatitis, Failure to thrive, Large for gestational age, Cryptorchidism, Palmoplantar...	OMIM:615355
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Alopecia, Restrictive cardiomyopathy, Hyperpigmented papule, Preauricular pit, Patent foramen ova...	ORPHA:88630
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Dry skin, Leukonychia, Angular cheilitis, Onycholysis, Follicular hyperkeratosis, Punctate palmop...	OMIM:616295
Nicolaides-Baraitser Syndrome	Highly arched eyebrow, Alopecia, Eczematoid dermatitis, Long eyelashes, Curly eyelashes, Cryptorc...	ORPHA:3051
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome	Generalized hirsutism, Periostitis, Skin ulcer, Osteomyelitis	ORPHA:2218
Chondrodysplasia Punctata 2, X-Linked Dominant	Sparse eyebrow, Rhizomelia, Failure to thrive, Postnatal growth retardation, Elevated 8(9)-choles...	OMIM:302960
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Small pituitary gland, Alopecia, Skeletal muscle atrophy, Melanocytic nevus, Reduced subcutaneous...	OMIM:612079
Potocki-Lupski Syndrome	Failure to thrive, Oral-pharyngeal dysphagia, Hypocholesterolemia, Abnormal renal morphology, Hyp...	OMIM:610883
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism	Severe short stature, Alopecia, Generalized hypoplasia of dental enamel, Thoracic kyphoscoliosis,...	OMIM:203550
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:607765
Proteus Syndrome	Cerebriform connective tissue nevus, Nevus, Multiple lipomas, Epidermal nevus, Lipoma, Hyperkerat...	OMIM:176920
Hereditary Acrokeratotic Poikiloderma	Erythema, Xerostomia, Hypopigmented skin patches, Dystrophic toenail, Skin ulcer, Eczematoid derm...	ORPHA:2907
Takayasu Arteritis	Skin ulcer, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Abnormal aortic valve m...	ORPHA:3287
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Eczematoid dermatitis, Hepatitis, Failure to thrive, Decreased FOXP3-expressing T cell ...	OMIM:304790
Pemphigus Foliaceus	Erythema, Skin erosion, Psoriasiform dermatitis, Erythematous plaque, Crusting erythematous derma...	ORPHA:79481
Transgrediens Et Progrediens Palmoplantar Keratoderma	Thickened skin, Dystrophic toenail, Erythematous plaque, Lichenoid skin lesion, Diffuse palmoplan...	ORPHA:495
Beta-Thalassemia Major	Hypoplasia of the musculature, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of...	ORPHA:231214
Ectodermal Dysplasia 9, Hair/Nail Type	Abnormal sweat gland morphology, Abnormal sebaceous gland morphology, Atrichia, Absent hair, Nail...	OMIM:614931
Rhizomelic Chondrodysplasia Punctata	Alopecia, Rhizomelia, Limitation of joint mobility, Growth delay, Sparse body hair, Dry skin, Epi...	ORPHA:177
Immunodeficiency 114, Folate-Responsive	Atopic dermatitis, Skin ulcer, Increased circulating ferritin concentration, Lymphopenia, Postnat...	OMIM:620603
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,...	OMIM:620058
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Inflammatory abnormality of the skin, Psoriasiform dermatitis, Crusting erythematous dermatitis, ...	ORPHA:37042
Alopecia-Intellectual Disability Syndrome	Alopecia, Growth delay, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Short stature, Flexi...	ORPHA:2850
Griscelli Syndrome, Type 1	Silver-gray hair, Hypopigmentation of the skin, Recurrent tonsillitis, Melanin pigment aggregatio...	OMIM:214450
Bazex-Dupré-Christol Syndrome	Sparse eyebrow, Coarse hair, Trichorrhexis nodosa, Sparse or absent eyelashes, Pili torti, Sparse...	ORPHA:113
Cardiofaciocutaneous Syndrome 3	Hyperkeratosis, Hyperhidrosis, Curly hair	OMIM:615279
Pressure-Induced Localized Lipoatrophy	Erythema, Inflammatory abnormality of the skin, Absence of subcutaneous fat, Reduced subcutaneous...	ORPHA:90160
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Anemia of inadequa...	ORPHA:231222
X-Linked Intellectual Disability, Stocco Dos Santos Type	Short stature, Small for gestational age, Kyphosis, Hirsutism	ORPHA:85288
Atypical Werner Syndrome	Aortic valve stenosis, Aortic valve calcification, Limitation of joint mobility, Premature grayin...	ORPHA:79474
Insulinoma	Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden...	ORPHA:97279
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, E...	OMIM:251880
Leopard Syndrome 3	Multiple lentigines, Dry skin, Few cafe-au-lait spots, Low posterior hairline, Curly hair, Hyperk...	OMIM:613707
2Q23.1 Microdeletion Syndrome	Self-injurious behavior, Highly arched eyebrow, Cryptorchidism, Generalized hirsutism, Polyphagia...	ORPHA:228402
Type 1 Diabetes Mellitus	Polydipsia, Hyperglycemia, Polyphagia, Polyuria, Decreased level of 1,5 anhydroglucitol in serum,...	OMIM:222100
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating acylcarnitine concentration, Hepatic failure, Decreased circulating carnitin...	ORPHA:159
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat...	ORPHA:26793
Porphyria Cutanea Tarda, Type I	Eczematoid dermatitis, Hypertrichosis	OMIM:176090
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Trichiasis, Sparse eyebrow, Keratitis, Elbow flexion contracture, Corneal scarring, Nail dystroph...	OMIM:148210
X-Linked Intellectual Disability, Golabi-Ito-Hall Type	Dry hair, Nail dystrophy, Brittle hair	ORPHA:93947
H Syndrome	Alopecia, Recurrent fever, Hypertrichosis, Hypogonadism, Abnormal eyebrow morphology, Decreased t...	ORPHA:168569
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Alopecia, Failure to thrive, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatospl...	ORPHA:169154
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypocholesterolemia, Hypersplenism, Splenomegaly	OMIM:610539
Oculodentodigital Dysplasia	Palmoplantar keratoderma, Abnormal form of the vertebral bodies, Fine hair, Cranial hyperostosis,...	ORPHA:2710
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Hepatitis, Sparse lateral eyebrow, Hypohidrosis, Palmoplantar hyperkeratosis, Enamel hypoplasia, ...	ORPHA:363523
Sjögren-Larsson Syndrome	Erythema, Abnormal dental enamel morphology, Dry skin, Ichthyosis, Inflammatory abnormality of th...	ORPHA:816
Adult Syndrome	Alopecia, Toenail dysplasia, Absent nipple, Skin ulcer, Fine hair, Breast hypoplasia, Fingernail ...	ORPHA:978
Tylosis With Esophageal Cancer	Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis	OMIM:148500
Intellectual Developmental Disorder, Autosomal Dominant 72	Renal hypoplasia, Obesity, Overfriendliness, Polyphagia, Attention deficit hyperactivity disorder...	OMIM:620439
Hypophosphatasia	Failure to thrive in infancy, Skin dimple over apex of long bone angulation, Short stature, Anemi...	ORPHA:436
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Skin ulcer, Dermal atrophy, Interstitial pneumonitis, Scali...	ORPHA:454831
Lymphoproliferative Syndrome, X-Linked, 2	Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hemophagocytosis, Hepatitis, ...	OMIM:300635
Hypocalcemic Vitamin D-Resistant Rickets	Hyperparathyroidism, Alopecia, Scoliosis, Coarse metaphyseal trabecularization, Abnormal form of ...	ORPHA:93160
Body Mass Index Quantitative Trait Locus 20	Polyphagia, Hyperinsulinemia, Obesity	OMIM:618406
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Fine hair, Generalized limb muscle atrophy, Failure to thrive in infancy, Intrauterine growth ret...	OMIM:618891
Progressive Familial Intrahepatic Cholestasis	Failure to thrive, Cholestasis, Splenomegaly, Hypocalcemia, Short stature, Hepatomegaly, Jaundice...	ORPHA:172
Hemochromatosis, Type 1	Alopecia, Elevated circulating hepatic transaminase concentration, Increased circulating iron con...	OMIM:235200
Leptin Receptor Deficiency	Decreased response to growth hormone stimulation test, Obesity, Abnormal eating behavior, Aggress...	OMIM:614963
Ollier Disease	Platyspondyly, Skin ulcer, Joint stiffness, Anemia, Subcutaneous nodule, Lymphangioma, Osteolysis	ORPHA:296
Hypophosphatasia, Infantile	Platyspondyly, Unossified vertebral bodies, Disproportionate short-limb short stature, Failure to...	OMIM:241500
Infantile Systemic Hyalinosis	Severe short stature, Osteopenia, Skin ulcer, Aplasia/Hypoplasia of the thymus, Osteomalacia, Cam...	ORPHA:2176
Immunodeficiency, Common Variable, 6	Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep...	OMIM:613496
Graft Versus Host Disease	Inflammatory abnormality of the skin, Hemophagocytosis, Hepatosplenomegaly, Hyperbilirubinemia, L...	ORPHA:39812
Zimmermann-Laband Syndrome 3	Facial hypertrichosis, Small nail, Hypertrichosis, Long eyelashes, Thick eyebrow, Absent toenail,...	OMIM:618658
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Aspiration pneumonia, Ichthyosis, Seborrheic dermatitis, Truncal obesity, Limb joint contracture,...	OMIM:301072
Addison Disease	Normocytic anemia, Thymoma, Failure to thrive, Dry skin, Vitiligo, Thiamine-responsive megaloblas...	ORPHA:85138
Trichotillomania	Alopecia	OMIM:613229
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased circulating cortisol level, Increased urinary cortisol level, Hepatic steatosis, Increa...	ORPHA:189427
Hypotonia-Cystinuria Syndrome	Polyphagia, Cystinuria, Failure to thrive, Nephrolithiasis	ORPHA:163690
6Q16 Microdeletion Syndrome	Abnormal temper tantrums, Broad-based gait, Obesity, Thick eyebrow, Polyphagia	ORPHA:171829
Rhabdoid Tumor	Neoplasm of the liver, Weight loss, Lymphadenopathy, Thrombocytopenia, Anemia, Subcutaneous nodul...	ORPHA:69077
Argininosuccinic Aciduria	Hepatic fibrosis, Dry hair, Failure to thrive, Trichorrhexis nodosa, Elevated circulating asparta...	OMIM:207900
Pediatric-Onset Graves Disease	Elevated circulating hepatic transaminase concentration, Graves disease, Polydipsia, Failure to t...	ORPHA:525731
Craniolenticulosutural Dysplasia	Forehead hyperpigmentation, Osteopenia, Coarse hair, Posterior wedging of vertebral bodies, Crypt...	OMIM:607812
Juvenile Dermatomyositis	Erythema, Alopecia, Limitation of joint mobility, Skin ulcer, Cardiomyopathy, Dry skin, Skin rash...	ORPHA:93672
Familial Keratoacanthoma	Skin ulcer, Adenoma sebaceum, Subcutaneous nodule, Papule, Hyperkeratosis	ORPHA:493
Schöpf-Schulz-Passarge Syndrome	Alopecia, Palmoplantar keratoderma, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Ovarian neoplasm	ORPHA:50944
Pachyonychia Congenita 1	Follicular hyperkeratosis, Palmoplantar hyperkeratosis, Nail dystrophy, Onychogryposis	OMIM:167200
Prader-Willi Syndrome	Temperature instability, Decreased muscle mass, Hyperinsulinemia, Type II diabetes mellitus, Fron...	OMIM:176270
Wilson Disease	Proximal muscle weakness in lower limbs, Elevated circulating hepatic transaminase concentration,...	ORPHA:905
Congenital Disorder Of Glycosylation, Type If	Failure to thrive, Dry skin, Erythroderma, Scaling skin, Flexion contracture, Hyperkeratosis	OMIM:609180
Neuropathy, Hereditary Sensory, Type Iic	Foot dorsiflexor weakness, Acral ulceration, Distal lower limb muscle weakness, Intrinsic hand mu...	OMIM:614213
Bardet-Biedl Syndrome 22	Hypogonadism, Polyphagia, Obesity, Large for gestational age	OMIM:617119
Hereditary Mucoepithelial Dysplasia	Alopecia, Sparse hair, Hyperkeratosis, Fine hair	ORPHA:1839
Mandibuloacral Dysplasia	Insulin resistance, Alopecia, Increased circulating free fatty acid level, Increased subcutaneous...	ORPHA:2457
Man1B1-Cdg	Sparse eyebrow, Broad-based gait, Abnormal position of hair whorl, Long eyelashes, Polyphagia, Cu...	ORPHA:397941
Sepsis In Premature Infants	Temperature instability, Oliguria, Fever, Decreased liver function, Reversible renal failure, Cya...	ORPHA:90051
Cronkhite-Canada Syndrome	Alopecia, Dystrophic toenail, Sparse body hair, Abnormal fingernail morphology, Generalized hyper...	ORPHA:2930
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Pituitary adenoma, Hepatitis, Failure to thrive, Dry skin, Vitiligo, Macrocyti...	ORPHA:199299
Brooke-Spiegler Syndrome	Skin ulcer, Skin appendage neoplasm, Skin-colored papule, Abnormality of the submandibular glands...	ORPHA:79493
Agammaglobulinemia 9, Autosomal Recessive	Seborrheic dermatitis, Eczematoid dermatitis, Failure to thrive	OMIM:619693
Giant Cell Arteritis	Alopecia, Hepatic failure, Skin ulcer, Double outlet right ventricle with subpulmonary ventricula...	ORPHA:397
N-Acetylglutamate Synthase Deficiency	Failure to thrive, Reduced hepatic N-acetylglutamate synthase activity, Hyperammonemia, Hypotherm...	OMIM:237310
Kid Syndrome	Trichilemmoma, Posterior blepharitis, Psoriasiform dermatitis, Sparse eyelashes, Follicular hyper...	ORPHA:477
Autism Spectrum Disorder Due To Auts2 Deficiency	Highly arched eyebrow, Joint contracture of the hand, Congenital contracture, Eczematoid dermatit...	ORPHA:352490
Erythrokeratodermia Variabilis Et Progressiva 1	Patchy palmoplantar hyperkeratosis, Erythroderma, Hypergranulosis, Generalized hyperkeratosis	OMIM:133200
Dermatomyositis	Cellulitis, Erythema, Abnormal eosinophil morphology, Dry skin, Weight loss, Abnormality of the n...	ORPHA:221
3-Hydroxy-3-Methylglutaric Aciduria	3-Methylglutaric aciduria, Elevated circulating hepatic transaminase concentration, Ketonuria, Fe...	ORPHA:20
Immunodeficiency 104	Pneumonia, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Failure to thrive secondary ...	OMIM:608971
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Splenomegaly, Failure to thrive, Enlarged kidney	OMIM:615285
Ectodermal Dysplasia-Skin Fragility Syndrome	Alopecia universalis, Cheilitis, Recurrent pneumonia, Palmoplantar keratoderma, Failure to thrive...	ORPHA:158668
Incontinentia Pigmenti	Erythema, Supernumerary nipple, Sparse hair, Hyperkeratosis, Onychogryposis, Alopecia, Breast apl...	OMIM:308300
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie...	ORPHA:98793
Epidermolytic Hyperkeratosis 1	Congenital bullous ichthyosiform erythroderma, Palmoplantar hyperkeratosis, Erythroderma, Scaling...	OMIM:113800
Cardiofaciocutaneous Syndrome 2	Sparse hair, Absent eyebrow, Fine hair, Curly hair	OMIM:615278
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie...	ORPHA:177904
Mucopolysaccharidosis, Type Iiia	Coarse hair, Reduced leukocyte N-sulfoglucosamine sulfohydrolase activity, Umbilical hernia, Join...	OMIM:252900
Glycogen Storage Disease Ia	Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Decr...	OMIM:232200
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie...	ORPHA:98754
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Acne inversa, Chronic furunculosis, Perifolliculitis, Follicular hyperkeratosis, Recurrent cutane...	OMIM:613736
Epidermolysis Bullosa, Lethal Acantholytic	Alopecia universalis, Skin erosion, Alopecia totalis, Anonychia, Aplasia cutis congenita, Acantho...	OMIM:609638
Erythroderma Desquamativum	Seborrheic dermatitis, Failure to thrive	ORPHA:314
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie...	ORPHA:177901
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Erythema, Dystrophic toenail, Dermal atrophy, Milia, Erythematous plaque, Crusting erythematous d...	ORPHA:158673
Leprosy	Alopecia, Uveitis, Testicular mass, Sparse body hair, Hypopigmented macule, Urticarial plaque, Pe...	ORPHA:548
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Recurrent pneumonia, Failure to thrive in infancy, Corneal scarring, Frontal upsweep of hair, Bro...	OMIM:301220
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis, Erythroderma	OMIM:136630
Glycosylphosphatidylinositol Biosynthesis Defect 25	Sparse hair, Coarse hair	OMIM:619985
Fusariosis	Cellulitis, Abnormality of the spleen, Lymphopenia, Neutropenia, Subcutaneous nodule, Skin detach...	ORPHA:228119
Peroxisome Biogenesis Disorder 3B	Failure to thrive, Elevated circulating phytanic acid concentration, Hypocholesterolemia, Hepatom...	OMIM:266510
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Alopecia, Reduced subcutaneous adipose tissue, Sparse eyelashes, Absent eyelashes, Absent eyebrow...	OMIM:137940
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Foot osteomyelitis, Acral ulceration, Skin ulcer, Distal amyotrophy	ORPHA:139578
Orofaciodigital Syndrome Type 1	Alopecia, Coarse hair, Lip pit, Elevated circulating hepatic transaminase concentration, Exocrine...	ORPHA:2750
Griscelli Syndrome, Type 2	Silver-gray hair, Hypopigmentation of the skin, Hemophagocytosis, Melanin pigment aggregation in ...	OMIM:607624
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Erythema, Aplasia cutis congenita on trunk or limbs, Recurrent skin infections, Onychogryposis, A...	ORPHA:79396
Hereditary Bullous Dystrophy, Macular Type	Pneumonia, Alopecia, Atrichia, Abnormal heart morphology, Decreased testicular size, Nail dystrop...	ORPHA:1867
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Decreased response to growth hormone stimulation test, Postnatal growth retardation, ...	OMIM:614732
Intermediate Generalized Junctional Epidermolysis Bullosa	Palmoplantar keratoderma, Sparse body hair, Atrophic scars, Milia, Nail dystrophy, Scarring alope...	ORPHA:79402
Donohue Syndrome	Hypertrichosis, Pancreatic islet-cell hyperplasia, Ovarian cyst, Adipose tissue loss, Nail dyspla...	OMIM:246200
Mucopolysaccharidosis, Type Iiic	Coarse hair, Hypertrichosis, Joint stiffness, Splenomegaly, Hirsutism, Hernia, Kyphoscoliosis, Ov...	OMIM:252930
Celiac Disease, Susceptibility To, 1	Alopecia, Elevated circulating hepatic transaminase concentration, Rickets, Eczematoid dermatitis...	OMIM:212750
Trichothiodystrophy 8, Nonphotosensitive	Sparse hair, Sparse eyebrow, Eczematoid dermatitis, Trichorrhexis nodosa, Cutis laxa, Woolly hair	OMIM:619691
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Erythematous papule, Skin ulcer, Erythematous plaque, Weight loss, Panniculitis	ORPHA:86884
Magel2-Related Prader-Willi-Like Syndrome	Temperature instability, Absence of pubertal development, Type II diabetes mellitus, Cryptorchidi...	ORPHA:398069
Obesity, Hyperphagia, And Developmental Delay	Polyphagia, Obesity, Motor stereotypy	OMIM:613886
Pyoderma Gangrenosum	Inflammation of the large intestine, Rheumatoid arthritis, Skin ulcer, Atrophic scars, Myositis, ...	ORPHA:48104
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Cardiomyopathy, Sideroblastic anemia, Brittle hair, Splenomegaly, B lymphocytopenia, Hypochromic ...	OMIM:616084
Sarcoidosis	Abnormal lymph node morphology, Weight loss, Erythema nodosum, Hepatomegaly, Skin plaque, Subcuta...	ORPHA:797
Lipe-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Proximal muscle weakness in lower limbs, Proximal muscle weakness in...	ORPHA:435660
Combined Immunodeficiency Due To Dock8 Deficiency	Pneumonia, Atopic dermatitis, Skin ulcer, Recurrent sinusitis, Chronic otitis media, Recurrent ba...	ORPHA:217390
Papa Syndrome	Limitation of joint mobility, Skin ulcer, Crohn's disease, Myositis, Increased inflammatory respo...	ORPHA:69126
Hypotrichosis 14	Sparse pubic hair, Sparse body hair, Absent axillary hair, Sparse hair, Short eyelashes	OMIM:618275
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Mucopolysaccharidosis-Plus Syndrome	Hypoalbuminemia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Coarse hair, Nephritis, ...	OMIM:617303
Mandibuloacral Dysplasia With Type A Lipodystrophy	Increased adipose tissue around the neck, Dermal atrophy, Postnatal growth retardation, Reduced s...	OMIM:248370
Secondary Short Bowel Syndrome	Central hypothyroidism, Failure to thrive, Cholestasis, Primary hypothyroidism, Polyphagia, Low p...	ORPHA:95427
Granulomatous Slack Skin	Erythema, Abnormal lymph node morphology, Redundant skin, Cutis laxa, Hypercalcemia	ORPHA:33111
Congenital Lethal Erythroderma	Ichthyosis, Dry skin, Congenital exfoliative erythroderma, Failure to thrive	ORPHA:1954
Panniculitis-Induced Localized Lipodystrophy	Erythema, Inflammatory abnormality of the skin, Absence of subcutaneous fat, Reduced subcutaneous...	ORPHA:90159
Combined Oxidative Phosphorylation Deficiency 37	Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transamin...	OMIM:618329
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Pneumonia, Atopic dermatitis, Nail dystrophy	OMIM:618806
Congenital Disorder Of Glycosylation, Type Il	Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Splenomegaly, Lipodystrophy, Hepatomegal...	OMIM:608776
Letterer-Siwe Disease	Seborrheic dermatitis, Pallor, Stomatitis	OMIM:246400
Acute Adrenal Insufficiency	Normocytic anemia, Failure to thrive, Dry skin, Vitiligo, Hyperuricemia, Hyponatremia, Sparse axi...	ORPHA:95409
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Abnormal sweat gland morphology, Alopecia, Absent eyelashes, Absent eyebrow, Hydrocele testis, Ab...	OMIM:607823
Porphyria, Congenital Erythropoietic	Joint contracture of the hand, Absent eyebrow, Hepatomegaly, Jaundice, Osteopenia, Alopecia, Atyp...	OMIM:263700
Cushing Disease	Lymphopenia, Adrenal hyperplasia, Increased body weight, Proximal amyotrophy, Decreased eosinophi...	ORPHA:96253
Polycystic Kidney Disease 5	Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico...	OMIM:617610
Intellectual Developmental Disorder, Autosomal Dominant 39	Polyphagia, Obesity, Aggressive behavior, Self-mutilation	OMIM:616521
Fibrous Dysplasia Of Bone	Osteomalacia, Elevated circulating alkaline phosphatase concentration, Large cafe-au-lait macules...	ORPHA:249
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Increased variability in muscle fiber diameter, Hepatic steatosis, Rhabdomyolysis, Hypothermia, 3...	ORPHA:17
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Eczematoid dermatitis, Failure to thrive, Obesity, Thick eyebrow, Abnormality of the pineal gland...	ORPHA:369950
Cardiofaciocutaneous Syndrome 4	Scoliosis, Multiple lentigines, Decreased response to growth hormone stimulation test, Alopecia o...	OMIM:615280
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Palmoplantar keratoderma, Dry skin, Alopecia of scalp, Nail dystrophy, Hypomelanotic ma...	OMIM:618373
Weaver Syndrome	Fine hair, Camptodactyly of finger, Abnormal fingernail morphology, Joint stiffness, Redundant sk...	ORPHA:3447
Costello Syndrome	Abnormal hair morphology, Abnormal fingernail morphology, Abnormal dental enamel morphology, Fail...	ORPHA:3071
Omenn Syndrome	Pneumonia, Alopecia, Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Ane...	OMIM:603554
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Hypothermia, Hypoglycemia, Dicarboxylic aciduria	OMIM:615026
Intellectual Developmental Disorder, Autosomal Recessive 5	Eczematoid dermatitis, Thick eyebrow, Achilles tendon contracture, Sparse hair, Small for gestati...	OMIM:611091
Nestor-Guillermo Progeria Syndrome	Dry skin, Sparse eyelashes, Limited elbow movement, Right atrial enlargement, Alopecia, Sparse ey...	OMIM:614008
Lymphatic Malformation 4	Cellulitis, Toenail dysplasia, Hyperkeratosis, Hydrocele testis	OMIM:615907
Ectodermal Dysplasia/Skin Fragility Syndrome	Alopecia of scalp, Nail dystrophy, Absent eyelashes, Dystrophic fingernails, Absent eyebrow, Palm...	OMIM:604536
Benign Cephalic Histiocytosis	Inflammatory abnormality of the skin, Papule, Skin rash	ORPHA:157997
Ichthyosis, Congenital, Autosomal Recessive 7	Ichthyosis, Palmoplantar keratoderma, Erythroderma, Hypergranulosis	OMIM:615022
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Skin ulcer, Extramedull...	ORPHA:822
Hypomelanosis Of Ito	Alopecia, Scoliosis, Kyphosis, Macular hypopigmented whorls, streaks, and patches	OMIM:300337
Systemic Sclerosis	Thickened skin, Alopecia, Digital ulcer, Flexion contracture, Osteomyelitis, Acral ulceration, Sp...	ORPHA:90291
Sim1-Related Prader-Willi-Like Syndrome	Premature adrenarche, Absence of pubertal development, Type II diabetes mellitus, Cryptorchidism,...	ORPHA:398079
Limited Cutaneous Systemic Sclerosis	Joint contracture of the hand, Foot joint contracture, Skin ulcer, Hypopigmented skin patches, Ab...	ORPHA:220402
Mucopolysaccharidosis, Type Iiib	Coarse hair, Joint stiffness, Splenomegaly, Hirsutism, Cardiomegaly, Reduced tissue alpha-N-acety...	OMIM:252920
Lichen Planus Pemphigoides	Abnormality of the nail, Skin vesicle, Conjunctivitis, Pruritus, Hyperkeratosis, Blepharitis	ORPHA:254478
Reynolds Syndrome	Xerostomia, Skin ulcer, Skin rash, Infectious encephalitis, Keratoconjunctivitis sicca, Arthritis...	ORPHA:779
Bardet-Biedl Syndrome 9	Polydipsia, Hyperglycemia, Obesity, Renal insufficiency, Polyphagia, Bone spicule pigmentation of...	OMIM:615986
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome	Palmoplantar hyperkeratosis, Hyperkeratotic papule, Leukonychia, Palmoplantar keratoderma	ORPHA:2698
Acrokeratosis Verruciformis	Ridged nail, Verrucous papule, Acrokeratosis, Punctate palmoplantar hyperkeratosis, Acantholysis,...	OMIM:101900
Osteopenia-Intellectual Disability-Sparse Hair Syndrome	Osteopenia, Fine hair, Postnatal growth retardation, Joint hypermobility, Recurrent fractures, Sp...	ORPHA:2324
Systemic Lupus Erythematosus 17	Alopecia, Myelitis, Lymphopenia, Leukopenia, Malar rash, Optic neuritis, Thrombocytopenia, Autoim...	OMIM:301080
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transami...	OMIM:614480
Nephronophthisis 16	Periportal fibrosis, Nephronophthisis, Cholestasis, Stage 5 chronic kidney disease, Renal insuffi...	OMIM:615382
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Recurrent otitis media, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lympha...	ORPHA:444463
Darier-White Disease	Palmar pits, Plantar pits, Ridged nail, Enlargement of parotid gland, Subungual hyperkeratotic fr...	OMIM:124200
Papillon-Lefèvre Syndrome	Cigarette-paper scars, Hypopigmented skin patches, Palmoplantar keratoderma, Hypertrichosis, Abno...	ORPHA:678
Insulin-Resistance Syndrome Type B	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ...	ORPHA:2298
Ataxia-Telangiectasia	Ataxia, Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Aplasia...	ORPHA:100
Arthrogryposis And Ectodermal Dysplasia	Trichiasis, Atypical scarring of skin, Joint contracture of the hand, Arthrogryposis multiplex co...	OMIM:601701
Meningococcal Meningitis	Fever, Renal insufficiency, Hypothermia, Petechiae, Increased circulating procalcitonin concentra...	ORPHA:33475
Elastoderma	Erysipelas, Eczematoid dermatitis, Premature skin wrinkling, Cutis laxa, Skin nodule, Papule	ORPHA:228240
Tyrosinemia, Type I	Acute hepatic failure, Cirrhosis, Glomerular sclerosis, Hepatomegaly, Renal insufficiency, Renal ...	OMIM:276700
Amaurosis-Hypertrichosis Syndrome	Abnormal eyelash morphology, Coarse hair, Thick eyebrow, Synophrys	ORPHA:1021
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Short stature, Scoliosis, Kyphosis, Hirsutism	OMIM:300434
Candidiasis, Familial, 8	Cheilitis, Seborrheic dermatitis, Blepharitis, Chronic oral candidiasis	OMIM:615527
Absence Of Fingerprints-Congenital Milia Syndrome	Thickened skin, Camptodactyly of finger, Milia, Skin rash, Hypohidrosis, Thin skin	ORPHA:1658
Genetic Transient Congenital Hypothyroidism	Thyroid defect in oxidation and organification of iodide, Mottled pigmentation, Elevated circulat...	ORPHA:226316
Spastic Paraplegia 18B, Autosomal Recessive	Skeletal muscle atrophy, Lower limb muscle weakness, Joint contracture, Scoliosis, Kyphosis	OMIM:611225
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Long eyelashes, Fine hair, Hyperhidrosis, High anterior hairline	ORPHA:231137
Iga Pemphigus	Skin erosion, Cutaneous abscess, Ulcerative colitis, Neutrophilic infiltration of the skin, Pustu...	ORPHA:555905
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans...	OMIM:124000
Pigmented Nodular Adrenocortical Disease, Primary, 4	Alopecia, Increased circulating cortisol level, Primary hypercortisolism, Dorsocervical fat pad, ...	OMIM:615830
Aa Amyloidosis	Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Cholestasis, Adrenal...	ORPHA:85445
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Erythema, Dry skin, Ichthyosis, Inguinal hernia, Scaling skin, Joint contracture, Hyperkeratosis,...	OMIM:614457
Buerger Disease	Hyperhidrosis, Skin ulcer	ORPHA:36258
Rapp-Hodgkin Syndrome	Sparse hair, Sparse eyebrow, Thin skin, Palmoplantar keratoderma, Small nail, Decreased number of...	OMIM:129400
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Small nail, Elbow flexion contracture, Large for gestational age, Ichthyosis, Knee flexion contra...	OMIM:300868
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Premature adrenarche, Increased circulating prolactin concentration, Hyperglycemia, Hypothermia, ...	ORPHA:293987
Pick Disease Of Brain	Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition	OMIM:172700
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu...	ORPHA:369
Nephronophthisis 3	Hepatic fibrosis, Nephronophthisis, Polydipsia, Failure to thrive, Stage 5 chronic kidney disease...	OMIM:604387
Kleine-Levin Syndrome	Polydipsia, Fever, Abnormal eating behavior, Sweet craving, Polyphagia, Repetitive compulsive beh...	ORPHA:33543
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Partial albinism, Hypopigmentation of hair, Short stature, Neutropenia	ORPHA:90023
Chand Syndrome	Nail dysplasia, Curly hair	OMIM:214350
Cryoglobulinemic Vasculitis	Mediastinal lymphadenopathy, Skin ulcer, Abnormality of the liver, Petechiae, Splenomegaly, Kerat...	ORPHA:91138
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Urticarial plaque, Recurrent otitis media, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Erythem...	OMIM:615688
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Hypo...	OMIM:232220
Angelman Syndrome	Self-injurious behavior, Iris hypopigmentation, Broad-based gait, Precocious puberty in females, ...	ORPHA:72
Chylomicron Retention Disease	Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypocholesterolemia, ...	ORPHA:71
Chylomicron Retention Disease	Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Decreased LDL chole...	OMIM:246700
Drug Reaction With Eosinophilia And Systemic Symptoms	Erythema, Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failu...	ORPHA:139402
Thymic Neuroendocrine Tumor	Osteopenia, Pituitary adenoma, Increased circulating prolactin concentration, Pituitary prolactin...	ORPHA:97289
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Alopecia, Elevated circulating hepatic transaminase concentration, Small for gestatio...	ORPHA:2959
Leprechaunism	Facial hypertrichosis, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Decreased body weig...	ORPHA:508
Adult-Onset Still Disease	Erythema, Weight loss, Neutrophilia, Hepatomegaly, Elevated circulating C-reactive protein concen...	ORPHA:829
Spontaneous Periodic Hypothermia	Gait disturbance, Pallor, Hypothermia, Ataxia	ORPHA:29822
Hypothyroidism Due To Tsh Receptor Mutations	Neonatal hyperbilirubinemia, Elevated circulating thyroid-stimulating hormone concentration, Incr...	ORPHA:90673
Poikiloderma With Neutropenia	Sparse eyebrow, Recurrent pneumonia, Palmoplantar keratoderma, Sparse lateral eyebrow, Recurrent ...	OMIM:604173
Polyarteritis Nodosa	Erythema, Skin ulcer, Cardiomyopathy, Weight loss, Elevated circulating C-reactive protein concen...	ORPHA:767
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Proxi...	OMIM:212065
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Aortic valve stenosis, Osteopenia, Sparse eyebrow, Atypical scarring of skin, Skeletal muscle atr...	ORPHA:75496
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Failure to thrive, Hypocholesterolemia, Decreased LDL cholesterol concentration, Delayed puberty,...	OMIM:616834
Cebalid Syndrome	Highly arched eyebrow, Polyphagia, Thick eyebrow, Congenital diaphragmatic hernia	OMIM:618774
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Hernia, Atrophic scars, Follicular hyperkeratosis	ORPHA:300179
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, R...	ORPHA:79303
Mitochondrial Dna-Associated Leigh Syndrome	Hepatic failure, Pigmentary retinopathy, Fever, Failure to thrive, Gait ataxia, Ragged-red muscle...	ORPHA:255210
Congenital Factor Xii Deficiency	Penetrating foot ulcers	ORPHA:330
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Cellulitis, Thickened skin, Skin ulcer, Erysipelas, Abnormal hair morphology, Dry skin, Leukonych...	ORPHA:2526
Generalized Pustular Psoriasis	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Lymphopenia, Obesity, E...	ORPHA:247353
Diffuse Cutaneous Mastocytosis	Skin erosion, Elevated total serum tryptase, Abnormality of the spleen, Abnormality of the liver,...	ORPHA:79456
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Inflammation of the large intestine, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Fa...	ORPHA:98813
Maternal Uniparental Disomy Of Chromosome 4	Type I diabetes mellitus, Limb-girdle muscular dystrophy, Pigmentary retinopathy, Hypocholesterol...	ORPHA:96180
Ectodermal Dysplasia/Short Stature Syndrome	Palmoplantar keratoderma, Nail dystrophy, Enamel hypoplasia, Anonychia, Hyperkeratosis	OMIM:616029
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Xanthelasma, Hepatic steatosis, Polycystic ovaries, Tubulointerstitial fibrosis, Hepatomegaly, Hy...	ORPHA:79259
Calciphylaxis	Cellulitis, Abnormality of skin physiology, Secondary hyperparathyroidism, Skin ulcer	ORPHA:280062
Bone Marrow Failure Syndrome 3	Small nail, Eczematoid dermatitis, Failure to thrive, Exocrine pancreatic insufficiency, Nail dys...	OMIM:617052
Ane Syndrome	Alopecia, Pituitary hypothyroidism, Decreased response to growth hormone stimulation test, Multip...	ORPHA:157954
Linear Verrucous Nevus Syndrome	Hyperkeratosis, Verrucous papule, Sparse scalp hair	ORPHA:2611
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per...	ORPHA:139507
Late-Onset Familial Hypoaldosteronism	Fever, Failure to thrive, Renal sodium wasting, Hyponatremia, Decreased circulating aldosterone l...	ORPHA:556037
Hepatitis Delta	Hepatic failure, Hepatitis, Elevated circulating aspartate aminotransferase concentration, Cirrho...	ORPHA:402823
Ichthyosis, Congenital, Autosomal Recessive 3	Erythema, Palmoplantar keratoderma, Ichthyosis, Hypohidrosis, Anhidrosis, Hyperkeratosis, Congeni...	OMIM:606545
Coenzyme Q10 Deficiency, Primary, 5	Decreased level of coenzyme Q10 in skeletal muscle, Left ventricular hypertrophy, Hyperalaninemia...	OMIM:614654
Craniofrontonasal Dysplasia	Ridged fingernail, Camptodactyly of finger, Congenital diaphragmatic hernia, Joint hypermobility,...	ORPHA:1520
Familial Hemophagocytic Lymphohistiocytosis	Hemophagocytosis, Erythroderma, Neutropenia, Hepatomegaly, Jaundice, Purpura, Ecchymosis, Lymphad...	ORPHA:540
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Alopecia, Abnormal dental enamel morphology, Ichthyosis, Abnormal toenail morphology, Hypohidrosi...	ORPHA:1005
Noonan Syndrome 5	Sparse eyebrow, Small nail, Fine hair, Nevus, Multiple lentigines, Dry skin, Hypertrophic cardiom...	OMIM:611553
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent...	OMIM:619658
Leopard Syndrome 2	Multiple lentigines, Dry skin, Hypertrophic cardiomyopathy, Short neck, Curly hair, Short stature...	OMIM:611554
Peeling Skin Syndrome 5	Hyperkeratosis, Scaling skin	OMIM:617115
Odontotrichoungual-Digital-Palmar Syndrome	Abnormality of hair texture, Nail dysplasia, Nail dystrophy	OMIM:601957
Autosomal Dominant Severe Congenital Neutropenia	Pneumonia, Osteopenia, Cellulitis, Aplastic anemia, Leukemia, Periodontitis, Lymphopenia, Recurre...	ORPHA:486
Renpenning Syndrome	Severe short stature, Alopecia, Abnormal hairshaft morphology, Skeletal muscle atrophy, Thin eyeb...	ORPHA:3242
Complement Component 5 Deficiency	Generalized seborrheic dermatitis	OMIM:609536
Cidec-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Polycystic o...	ORPHA:435651
Non-Functioning Paraganglioma	Hypercalcemia, Weight loss, Pallor, Episodic hyperhidrosis	ORPHA:94080
Tricho-Retino-Dento-Digital Syndrome	Sparse hair, Uncombable hair	ORPHA:1264
Monosomy 13Q34	Horizontal eyebrow, Growth delay, Obesity, Hepatic steatosis, Common atrium, Hypercalcemia, Pulmo...	ORPHA:96168
22Q11.2 Deletion Syndrome	Acne, Cholelithiasis, Hypopigmented skin patches, Failure to thrive, Umbilical hernia, Abnormal d...	ORPHA:567
Fg Syndrome 3	Sparse hair, Frontal upsweep of hair, Cryptorchidism, Fine hair	OMIM:300406
Dyskeratosis Congenita, Autosomal Dominant 3	Aplastic anemia, Premature graying of hair, Dry skin, Pancytopenia, Cryptorchidism, Neutropenia, ...	OMIM:613990
Naxos Disease	Sparse eyebrow, Subungual hyperkeratosis, Palmoplantar keratoderma, Sparse body hair, Nail dystro...	OMIM:601214
De Sanctis-Cacchione Syndrome	Keratitis, Bilateral cryptorchidism, Dermal atrophy, Parakeratosis, Conjunctivitis, Hypermelanoti...	OMIM:278800
Abetalipoproteinemia	Broad-based gait, Hyperbilirubinemia, Hepatic steatosis, Myopathy, Cirrhosis, Ataxia, Hepatomegal...	ORPHA:14
Obesity	Decreased resting energy expenditure, Obesity, Increased waist to hip ratio	OMIM:601665
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Alopecia, Hypopigmentation of the skin, Nevus, Hypophosphatemic rickets, Linear nevus...	OMIM:163200
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Highly arched eyebrow, Alopecia, Sparse lateral eyebrow, Dystrophic toenail, Abnormal dental enam...	ORPHA:3253
Paternal Uniparental Disomy Of Chromosome 1	Abnormal dental enamel morphology, Obesity, Proteinuria, Polyphagia, Delayed puberty, Increased b...	ORPHA:251004
2-Methylbutyryl-Coa Dehydrogenase Deficiency	2-ethylhydracylic aciduria, Hypothermia, Hypoglycemia, Generalized amyotrophy	OMIM:610006
Aredyld Syndrome	Craniofacial hyperostosis, Sparse body hair, Abnormal dental enamel morphology, Intrauterine grow...	ORPHA:1133
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Thick eyebrow, Low posterior hairline, Thick hair, Truncal obesity, Scoliosis, Kyphosis, Synophrys	ORPHA:2429
Pachyonychia Congenita 3	Palmoplantar keratoderma, Onychogryposis of toenails, Nail dystrophy, Follicular hyperkeratosis, ...	OMIM:615726
Bethlem Myopathy 2	Increased variability in muscle fiber diameter, Atrophic scars, Myopathy, Elevated circulating cr...	OMIM:616471
Paget Disease, Extramammary	Eczematoid dermatitis	OMIM:167300
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis, Alopecia totalis, Hypothermia, Elevated circulating creatine kinase concentration...	OMIM:618775
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Abnormal hair morphology, Dermal atrophy, Generalized lipodystrophy, Hyperlipidemia, Na...	ORPHA:90154
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Alopecia, Rickets, Rickets of the lower limbs, Sparse bone trabe...	OMIM:600785
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia, Abnormality of the vertebral column	OMIM:191420
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Eczematoid dermatitis, Failure to thrive	OMIM:620007
Pgm3-Cdg	Allergic rhinitis, Abnormal CD4:CD8 ratio, Lymphopenia, Esophagitis, Decreased proportion of CD4-...	ORPHA:443811
Mandibuloacral Dysplasia With Type A Lipodystrophy	Alopecia, Limitation of joint mobility, Breast aplasia, Abnormal eyebrow morphology, Dermal atrop...	ORPHA:90153
Holocarboxylase Synthetase Deficiency	Perioral eczema, Alopecia, Eczematoid dermatitis, Hyperammonemia, Keratoconjunctivitis, Weight lo...	ORPHA:79242
Alopecia Universalis	Alopecia universalis, Absent eyelashes, Patchy alopecia, Absent eyebrow, Abnormality of the nail	ORPHA:701
Neutrophilic Dermatosis, Acute Febrile	Erythema, Acne inversa, Cystic acne, Pyoderma gangrenosum, Panniculitis	OMIM:608068
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Umbilical hernia, Large for gestational age, Inguinal hernia, Nephroblastoma, Enlarged kidney	OMIM:618272
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Osteopenia, Alopecia, Rheumatoid arthritis, Non-caseating epithelioid cell gr...	ORPHA:227990
Pemphigus Erythematosus	Localized skin lesion, Skin erosion, Focal dermal aplasia/hypoplasia, Hypopigmented skin patches,...	ORPHA:79480
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Kikuchi-Fujimoto Disease	Erythema, Abnormal lymph node morphology, Pustule, Weight loss, Neutropenia, Hepatomegaly, Skin p...	ORPHA:50918
Hyperparathyroidism 4	Osteopenia, Hypercalcemia, Parathyroid carcinoma, Primary hyperparathyroidism	OMIM:617343
Insensitivity To Pain, Congenital, With Anhidrosis	Keratitis, Osteomyelitis, Corneal scarring, Acral ulceration, Nail dystrophy, Nail dysplasia, Anh...	OMIM:256800
Prader-Willi Syndrome	Premature adrenarche, Precocious puberty, Small pituitary gland, Decreased circulating gonadotrop...	ORPHA:739
Rothmund-Thomson Syndrome	Aplastic anemia, Small nail, Alopecia totalis, Sparse eyelashes, Calcinosis, Neutropenia, Leukemi...	ORPHA:2909
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatic failure, Hypertrichosis, Pancreatic lymphangiectasis, Postnatal growth retardation, Hepat...	ORPHA:1655
Frontotemporal Dementia	Polyphagia, Inappropriate laughter, Disinhibition	OMIM:600274
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Increased adipose tissue around the neck, Premature graying of hair, Hepatic steatosis, Myopathy,...	ORPHA:280365
Oculocerebrorenal Syndrome Of Lowe	Periodontitis, Osteomalacia, Cryptorchidism, Hypophosphatemia, Chronic otitis media, Atypical sca...	ORPHA:534
Zimmermann-Laband Syndrome 2	Kyphosis, Hypertrichosis, Long eyelashes, Thick eyebrow, Hirsutism, Short neck, Anonychia, Short ...	OMIM:616455
Dyskeratosis Congenita, Autosomal Dominant 1	Bone marrow hypocellularity, Alopecia, Aplastic anemia, Increased mean corpuscular volume, Premat...	OMIM:127550
Diffuse Neonatal Hemangiomatosis	Anemia, Hepatomegaly, Hypercalcemia, Thrombocytopenia	ORPHA:2123
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Loose anagen hair, Eczematoid dermatitis, Failure to thrive, Multiple lentigines, Long eyelashes,...	OMIM:607721
Macs Syndrome	Alopecia, Sparse eyebrow, Umbilical hernia, Recurrent aphthous stomatitis, Redundant skin, Crypto...	OMIM:613075
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Alopecia universalis, Alopecia, Pigmentary retinopathy, Cholelithiasis, Chron...	OMIM:240300
Sweet Syndrome	Inflammation of the large intestine, Erythematous papule, Acne inversa, Predominantly dermal neut...	ORPHA:3243
Ichthyosis Hystrix, Curth-Macklin Type	Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin	OMIM:146590
Hypobetalipoproteinemia, Familial, 1	Ataxia, Decreased HDL cholesterol concentration, Hypocholesterolemia, Elevated circulating aspart...	OMIM:615558
Livedoid Vasculopathy	Hyperpigmented streaks, Erythematous papule, Skin ulcer, Polycythemia, Macular purpura, Abnormal ...	ORPHA:542643
Neuropathy, Hereditary Sensory, Type If	Osteomyelitis, Hyperkeratosis	OMIM:615632
Chronic Granulomatous Disease	Skin ulcer, Eczematoid dermatitis, Splenomegaly, Otitis media, Inflammatory abnormality of the ey...	ORPHA:379
Noonan Syndrome 6	Growth delay, Juvenile myelomonocytic leukemia, Multiple lentigines, Hypertrophic cardiomyopathy,...	OMIM:613224
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Failure to thrive, Hypercalcemia, Complete atrioventricular canal defect, Scoliosis, Kyphosis, Sy...	ORPHA:476126
Griscelli Syndrome Type 2	Iris hypopigmentation, Fever, Premature graying of hair, Partial albinism, Hyperlipidemia, Spleno...	ORPHA:79477
Subacute Cutaneous Lupus Erythematosus	Discoid lupus rash, Dermal atrophy, Psoriasiform lesion, Malar rash, Cheilitis, Hyperkeratosis, A...	ORPHA:163525
Mixed Connective Tissue Disease	Alopecia, Mediastinal lymphadenopathy, Joint stiffness, Hemolytic anemia, Leukopenia, Splenomegal...	ORPHA:809
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Joint contracture of the hand, Limited elbow movement, Hypertrophic card...	OMIM:300280
Poems Syndrome	Abnormality of skin physiology, Polycythemia, Increased circulating prolactin concentration, Scle...	ORPHA:2905
Chime Syndrome	Erythema, Acute leukemia, Skin ulcer, Fine hair, Tetralogy of Fallot, Ventricular septal defect, ...	ORPHA:3474
Osteopetrosis, Autosomal Recessive 1	Facial paralysis, Increased circulating lactate dehydrogenase concentration, Sandwich appearance ...	OMIM:259700
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatic failure, Hypertrichosis, Pancreatic lymphangiectasis, Splenomegaly, Redundant neck skin, ...	OMIM:235255
Alg12-Cdg	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Small nail, Failure to ...	ORPHA:79324
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Dry skin, Cryptorchidism, Multiple joint contractures, Follicular hyperkeratosis, Overweight	ORPHA:486815
Harlequin Ichthyosis	Ichthyosis, Hyperkeratosis, Erythroderma, Congenital ichthyosiform erythroderma	ORPHA:457
Complement Component C1S Deficiency	Hashimoto thyroiditis, Hepatitis	OMIM:613783
Mucopolysaccharidosis, Type Vii	Hypoplasia of the odontoid process, Limitation of joint mobility, Recurrent otitis media, Postnat...	OMIM:253220
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Hypomagnesemia, Nail dystrophy, Hypocalcemia, Hypokalemia, Nail dysplasia, Cachexia, Hy...	OMIM:175500
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Elevated circulating luteinizing hormone level, Absence of pubertal development, Ovarian cyst, De...	ORPHA:90793
Akt2-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Insulin resistance, Insulin-resistant diabetes mellitus, Increased i...	ORPHA:79085
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati...	OMIM:616828
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	Eczematoid dermatitis, Dry skin, Long eyelashes, Obesity, Elbow hypertrichosis	OMIM:620191
Focal Dermal Hypoplasia	Focal dermal aplasia/hypoplasia, Supernumerary nipple, Dermal atrophy, Absent toenail, Congenital...	OMIM:305600
Autosomal Agammaglobulinemia	Cellulitis, Bronchiectasis, Hepatitis, Failure to thrive, Osteomyelitis, Skin rash, Sinusitis, Ne...	ORPHA:33110
Chronic Actinic Dermatitis	Allergic rhinitis, Erythematous papule, Eczematoid dermatitis, Hypopigmented skin patches, Progre...	ORPHA:330064
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Osteopenia, Alopecia, Rheumatoid arthritis, Non-caseating epithelioid cell gr...	ORPHA:227982
Familial Multiple Nevi Flammei	Irregular hyperpigmentation, Skin ulcer, Hypermelanotic macule, Nevus flammeus, Papule, Scoliosis	ORPHA:624
Bacterial Toxic-Shock Syndrome	Cellulitis, Localized skin lesion, Glomerulonephritis, Recurrent skin infections, Osteomyelitis, ...	ORPHA:36234
Luscan-Lumish Syndrome	High anterior hairline, Obesity, Polycystic ovaries, Hirsutism, Polyphagia, Aggressive behavior	OMIM:616831
Fibrodysplasia Ossificans Progressiva	Alopecia, Small cervical vertebral bodies, Ectopic ossification in ligament tissue, Progressive c...	OMIM:135100
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Comedonal acne, Follicular hyperkeratosis	OMIM:615147
Autosomal Dominant Hypocalcemia	Alopecia, Irregular hyperpigmentation, Hyperphosphatemia, Eczematoid dermatitis, Hypomagnesemia, ...	ORPHA:428
Microscopic Polyangiitis	Erythema, Uveitis, Skin ulcer, Episcleritis, Skin rash, Increased inflammatory response, Peritoni...	ORPHA:727
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Skin ulcer, Aplasia/Hypoplasia of the skin, Abnormality of skin pigmentation, Purpura, Thin skin	ORPHA:743
Baralle-Macken Syndrome	Striae distensae, Obesity, Hirsutism, Cafe-au-lait spot, Kyphosis	OMIM:619255
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Alopecia, Sparse body hair, Absent eyelashes, Absent eyebrow, Hydrocele testis, Sparse scalp hair	ORPHA:69735
Giant Axonal Neuropathy	Pili canaliculi, Limb muscle weakness, Abnormality of the Achilles tendon, Joint hypermobility, F...	ORPHA:643
Congenital Disorder Of Glycosylation, Type Iih	Failure to thrive in infancy, Elevated circulating aspartate aminotransferase concentration, Inte...	OMIM:611182
Warty Dyskeratoma	Localized skin lesion, Erythematous papule, Abnormal fingernail morphology, Skin-colored papule, ...	ORPHA:69745
Alstrom Syndrome	Hepatic steatosis, Hepatomegaly, Tubulointerstitial nephritis, Elevated hemoglobin A1c, Alopecia,...	OMIM:203800
Chronic Graft Versus Host Disease	Erythema, Alopecia, Thickened skin, Xerostomia, Skin ulcer, Urinary bladder inflammation, Fasciit...	ORPHA:99921
Milroy Disease	Cellulitis, Toenail dysplasia, Erysipelas, Hydrocele testis, Hyperkeratosis	ORPHA:79452
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatitis, Failure to thrive in infancy, Pancytopenia, Hypersplenism, Limited elbow extension, Sp...	OMIM:613385
Sulfite Oxidase Deficiency, Isolated	Eczematoid dermatitis, Fine hair	OMIM:272300
Aplasia Cutis-Myopia Syndrome	Aplasia cutis congenita, Skin ulcer	ORPHA:1117
Corticosterone Methyloxidase Type Ii Deficiency	Increased circulating 18-hydroxycortisone level, Failure to thrive, Hyponatremia, Increased circu...	OMIM:610600
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Alopecia, Coarse hair, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Chronic...	OMIM:158310
Cushing Syndrome Due To Ectopic Acth Secretion	Abnormal lymph node morphology, Lymphopenia, Adrenal hyperplasia, Increased body weight, Proximal...	ORPHA:99889
Lymphoid Interstitial Pneumonia	Fever, Failure to thrive, Abnormality of connective tissue, Weight loss, Hepatomegaly, Hypoxemia,...	ORPHA:79128
Parastremmatic Dwarfism	Severe short stature, Short neck, Flexion contracture, Scoliosis, Kyphosis	OMIM:168400
Naegeli-Franceschetti-Jadassohn Syndrome	Subungual hyperkeratosis, Dystrophic toenail, Decreased number of sweat glands, Interphalangeal j...	ORPHA:69087
Cartilage-Hair Hypoplasia	Short neck, Abnormal bone ossification, Neutropenia, Hepatomegaly, Sparse hair, Sparse eyebrow, D...	ORPHA:175
Transketolase Deficiency	Conjunctivitis, Seborrheic dermatitis, Uveitis	ORPHA:488618
Gm1 Gangliosidosis	Aspiration pneumonia, Hepatosplenomegaly, Ventricular septal defect, Generalized hirsutism, Weigh...	ORPHA:354
Disabling Pansclerotic Morphea Of Childhood	Skin ulcer, Joint contracture, Morphea	OMIM:620443
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Distal amyotrophy, Kyphosis, Elbow flexion contracture, Nonprogressive muscular atrophy, Distal l...	OMIM:600175
Neuroleptic Malignant Syndrome	Acute kidney injury, Elevated circulating hepatic transaminase concentration, Hyperphosphatemia, ...	ORPHA:94093
Felty Syndrome	Cellulitis, Limitation of joint mobility, Synovitis, Weight loss, Neutropenia, Hepatomegaly, Subc...	ORPHA:47612
Mucolipidosis Type Ii	Dry hair, Limitation of joint mobility, White hair, Postnatal growth retardation, Hepatosplenomeg...	ORPHA:576
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Hepatosplenomegaly, Chronic hepatitis, Erythroderma, Myocar...	ORPHA:3260
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Anemia, Hyperparathyroidism, Hypercalcemia, Bone cyst	ORPHA:2668
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Insulin resistance, Insulin-resistant diabetes mellitus, Polycystic ovaries, Enlarged polycystic ...	ORPHA:90301
Classic Phenylketonuria	Hypopigmentation of hair, Eczematoid dermatitis, Lack of skin elasticity	ORPHA:79254
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Alopecia, Hypoplastic fingernail, Abnormal dental enamel morphology, Hyperconvex fingernails, Der...	ORPHA:257
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec...	ORPHA:730
Johnson Neuroectodermal Syndrome	Severe short stature, Alopecia, Failure to thrive, Tetralogy of Fallot, Absent eyelashes, Facial ...	ORPHA:2316
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Chronic...	OMIM:150550
Inflammatory Skin And Bowel Disease, Neonatal, 1	Paronychia, Blepharitis, Perioral erythema, Failure to thrive, Pustule, Erythroderma, Perianal er...	OMIM:614328
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Muscle f...	OMIM:300718
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Fine hair, Intrauterine growth retardation, Dorsocervical fat pad, Joint hypermobility, Low anter...	ORPHA:391408
Adamantinoma	Pathologic fracture, Hypercalcemia	ORPHA:55881
Kury-Isidor Syndrome	Alopecia, Growth delay, Hypertrichosis, Recurrent otitis media, Ventricular septal defect, Short ...	OMIM:619762
Cog4-Cdg	Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Hepatosple...	ORPHA:263501
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	Osteomyelitis, Skin ulcer, Anhidrosis	OMIM:613640
S-Adenosylhomocysteine Hydrolase Deficiency	Hypoalbuminemia, Hypermethioninemia, Muscular dystrophy, Elevated circulating hepatic transaminas...	ORPHA:88618
Adult Syndrome	Absent nipple, Fair hair, Eczematoid dermatitis, Breast hypoplasia, Dry skin, Dermal atrophy, Alo...	OMIM:103285
Occipital Horn Syndrome	Synostosis of joints, Osteomalacia, Cholestasis, Esophagitis, Jaundice, Osteopenia, Atypical scar...	ORPHA:198
Localized Junctional Epidermolysis Bullosa	Dental enamel pits, Sparse pubic hair, Atypical scarring of skin, Dystrophic toenail, Milia, Atro...	ORPHA:251393
Rhizomelic Syndrome, Urbach Type	Rhizomelia, Limitation of joint mobility, Abnormal form of the vertebral bodies, Short neck, Abno...	ORPHA:3098
Mantle Cell Lymphoma	Weight loss, Splenomegaly, Lymphadenopathy	ORPHA:52416
Early-Onset Familial Hypoaldosteronism	Failure to thrive, Renal sodium wasting, Hyponatremia, Decreased circulating aldosterone level, E...	ORPHA:556030
Metaphyseal Chondrodysplasia, Jansen Type	Severe short stature, Osteopenia, Pathologic fracture, Elevated circulating alkaline phosphatase ...	OMIM:156400
Satoyoshi Syndrome	Alopecia universalis, Alopecia, Osteolytic defects of the phalanges of the hand, Short stature, M...	OMIM:600705
Paget Disease Of Bone 2, Early-Onset	Fractures of the long bones, Sandwich appearance of vertebral bodies, Sclerosis of skull base, In...	OMIM:602080
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Dry skin, Follicular hyperkeratosis, Joint contracture	OMIM:617066
Even-Plus Syndrome	Atopic dermatitis, Highly arched eyebrow, Aplasia cutis congenita, Sparse hair, Synophrys	OMIM:616854
Gm1-Gangliosidosis, Type I	Severe short stature, Dilated cardiomyopathy, Hypertrichosis, Hypertrophic cardiomyopathy, Abnorm...	OMIM:230500
Cdkl5-Deficiency Disorder	Inappropriate laughter, Scoliosis, Growth delay, Kyphosis, Synophrys	ORPHA:505652
Primary Erythromelalgia	Erythema, Hypothermia	ORPHA:90026
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Insulin resistance, Male hypogonadism, Elevated circulating hepatic transaminase concentration, C...	OMIM:615381
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Abnormality of alkaline phosphatase level, Sparse lateral eyebrow, Fine hair, Ivory e...	OMIM:190350
Schimke Immunoosseous Dysplasia	Lymphopenia, Pancytopenia, Short neck, Disproportionate short-trunk short stature, Neutropenia, O...	OMIM:242900
Immunodeficiency 7	Failure to thrive, Recurrent otitis media, Vitiligo, Hypereosinophilia, Splenomegaly, Autoimmune ...	OMIM:615387
X-Linked Acrogigantism	Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop...	ORPHA:300373
Autosomal Recessive Malignant Osteopetrosis	Growth delay, Pallor, Abnormal pulmonary valve morphology, Splenomegaly, Otitis media, Chronic rh...	ORPHA:667
Lethal Acantholytic Erosive Disorder	Congenital alopecia totalis, Absent hair, Absent toenail, Absent eyelashes, Camptodactyly of toe,...	ORPHA:158687
Lipodystrophy, Familial Partial, Type 5	Decreased adiponectin level, Hepatic steatosis, Lipodystrophy, Hypertriglyceridemia, Hepatomegaly...	OMIM:615238
Majeed Syndrome	Acne, Inflammatory abnormality of the skin, Failure to thrive, Osteomyelitis, Leukocytosis, Incre...	ORPHA:77297
Trisomy 18P	Highly arched eyebrow, Bilateral cryptorchidism, Polyphagia, Attention deficit hyperactivity diso...	ORPHA:1715
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Hypothermia...	ORPHA:226307
Uremic Pruritus	Renal hypophosphatemia, Hypermagnesemia, Inflammatory abnormality of the skin, Elevated total ser...	ORPHA:94059
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Hypochromic anemia, Osteomalacia, Postnatal growth retardation, ...	ORPHA:289157
Familial Isolated Hyperparathyroidism	Osteopenia, Chondrocalcinosis, Hypophosphatemia, Parathyroid adenoma, Generalized osteoporosis, H...	ORPHA:99879
Neutral Lipid Storage Disease With Ichthyosis	Ataxia, Alopecia, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis...	ORPHA:98907
Koolen-De Vries Syndrome	Dry skin, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect,...	OMIM:610443
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Abnormal vertebral morphology, Fine hair, Intrauterine growth retardation, Increased vertebral he...	OMIM:616817
Noonan Syndrome 7	Growth delay, Hypertrophic cardiomyopathy, Large for gestational age, Joint hypermobility, Low po...	OMIM:613706
2P21 Microdeletion Syndrome	Long eyelashes, Growth delay, Hypocalcemia, Failure to thrive	ORPHA:163693
Distal Duplication 6P	Fine hair, Dry skin, Intrauterine growth retardation, Hernia, Short neck, Abnormal hair quantity,...	ORPHA:1745
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Small for gestational age, Inguinal hernia, Decreased body weight, Short stature, Reduced bone mi...	OMIM:618392
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Failure to thrive, Decreased liver function, Inability to walk, Abnormal circulating enzyme conce...	ORPHA:70472
Localized Scleroderma	Erythema, Localized skin lesion, Hypopigmented skin patches, Esophagitis, Erythematous plaque, My...	ORPHA:90289
Menkes Disease	Sparse hair, Atypical scarring of skin, Chondrocalcinosis, Hypoglycemia, Umbilical hernia, Dry sk...	ORPHA:565
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Coarse hair, Failure to thrive, Decreased muscle mass, Abnormal circulating apolipoprotein concen...	ORPHA:357074
Focal Dermal Hypoplasia	Erythema, Acute hepatic failure, Dermal atrophy, Congenital diaphragmatic hernia, Ventricular sep...	ORPHA:2092
Mccune-Albright Syndrome	Increased circulating prolactin concentration, Osteomalacia, Cholestasis, Pancytopenia, Ovarian c...	ORPHA:562
Kleine-Levin Hibernation Syndrome	Polyphagia	OMIM:148840
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Cellulitis, Atopic dermatitis, Cutaneous abscess, Recurrent otitis media, Recurrent skin infections	OMIM:618944
Pulmonary Blastoma	Recurrent pneumonia, Weight loss	ORPHA:64741
Renal Glucosuria	Enuresis nocturna, Polydipsia, Glycosuria, Polyphagia, Polyuria	OMIM:233100
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of the skin, Growth delay, Intrauterine growth retardation, Splenomegaly, Osteop...	OMIM:618541
Autoimmune Hepatitis	Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Vir...	ORPHA:2137
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hypopigmented skin patches, Multiple lentigines, Hyperkeratosis, Hypermelanotic macule, Cafe-au-l...	OMIM:145250
Refractory Celiac Disease	Normocytic anemia, Hypoalbuminemia, Inflammatory abnormality of the skin, Elevated circulating he...	ORPHA:398063
19Q13.11 Microdeletion Syndrome	Sparse lateral eyebrow, Fine hair, Supernumerary nipple, Failure to thrive, Dry skin, Intrauterin...	ORPHA:217346
Syndromic Recessive X-Linked Ichthyosis	Ichthyosis, Cryptorchidism, Testicular seminoma, Hypohidrosis, Hyperkeratosis	ORPHA:281090
Trichorhinophalangeal Syndrome, Type Iii	Sparse hair, Sparse lateral eyebrow, Fine hair, Epidermal hyperkeratosis	OMIM:190351
Spastic Paraplegia 53, Autosomal Recessive	Upper limb hypertonia, Hypertrichosis, Joint hypermobility, Kyphosis, Lower limb hypertonia	OMIM:614898
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Dry skin, Cryptorchidism, Absent eyelashes, Absent eyebrow, Follicular hyperkeratosis, Erythroder...	OMIM:308205
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Inguinal hernia, Limb hypertonia, Hypothermia, Joint contracture	OMIM:614498
Tonne-Kalscheuer Syndrome	Small nail, Fine hair, Abnormal heart morphology, Decreased testicular size, Congenital diaphragm...	OMIM:300978
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Giant cell hepatitis, Elevat...	OMIM:208085
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Erythema, Abnormal hair morphology, Cryptorchidism, Scleritis, Absent eyebrow, Sparse hair, Hyper...	ORPHA:2273
Relapsing Polychondritis	Erythema, Alopecia, Uveitis, Limitation of joint mobility, Hepatitis, Keratitis, Recurrent aphtho...	ORPHA:728
Vulto-Van Silfhout-De Vries Syndrome	Horizontal eyebrow, Widow's peak, Fine hair	OMIM:615828
Toxic Epidermal Necrolysis	Erythema, Skin ulcer, Weight loss, Pancreatitis, Macule, Conjunctivitis, Acantholysis	ORPHA:537
Renal-Hepatic-Pancreatic Dysplasia 1	Cholestasis, Cirrhosis, Hepatomegaly, Polycystic kidney dysplasia, Renal dysplasia, Bile duct pro...	OMIM:208540
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Alopecia, Yellow nails, Sparse lateral eyebrow, Ridged nail, Nail dystrophy, Onycholysis	OMIM:614564
Intellectual Developmental Disorder, Autosomal Dominant 1	Self-injurious behavior, Highly arched eyebrow, Bruxism, Long eyelashes, Thick eyebrow, Inappropr...	OMIM:156200
Koolen-De Vries Syndrome	Abnormal dental enamel morphology, Dry skin, Cryptorchidism, Overfriendliness, Joint hypermobilit...	ORPHA:96169
Developmental And Epileptic Encephalopathy 78	Inability to walk, Hypothermia	OMIM:618557
Timothy Syndrome	Hypoglycemia, Hypothermia, Hypocalcemia, Cardiomegaly, Hypothyroidism	OMIM:601005
Vitamin D-Dependent Rickets, Type 2A	Delayed epiphyseal ossification, Alopecia universalis, Rickets, Failure to thrive, Secondary hype...	OMIM:277440
Beckwith-Wiedemann Syndrome	Nephropathy, Congenital diaphragmatic hernia, Cryptorchidism, Hepatoblastoma, Hepatomegaly, Neona...	ORPHA:116
Diaphanospondylodysostosis	Nephroblastomatosis, Nephrogenic rest, Hypoplastic fingernail, Horseshoe kidney, Inguinal hernia,...	OMIM:608022
Acquired Purpura Fulminans	Hepatic failure, Macular purpura, Skin rash, Macule, Thrombocytopenia, Elevated circulating C-rea...	ORPHA:49566
Fibrosis Of Extraocular Muscles, Congenital, 3C	Congenital fibrosis of extraocular muscles, Highly arched eyebrow, Kyphosis	OMIM:609384
Chondrodysplasia Punctata, Autosomal Dominant	Hyperkeratosis with erythema, Sparse hair, Coarse hair	OMIM:118650
Congenital Enterovirus Infection	Hypoalbuminemia, Hepatic failure, Hepatitis, Fever, Cholestasis, Hyperammonemia, Hypothermia	ORPHA:292
Albinism, Oculocutaneous, Type Iii	Albinism, Red hair, Partial albinism	OMIM:203290
Intellectual Developmental Disorder, X-Linked 82	Scoliosis, Kyphosis	OMIM:300518
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Mitochondrial Complex I Deficiency, Nuclear Type 11	Pigmentary retinopathy, Failure to thrive, Hypertrophic cardiomyopathy, Myopathy, Hepatomegaly, O...	OMIM:618234
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Pneumonia, Recurrent pneumonia, Hepatitis, Failure to thrive secondary to recurrent infections, L...	ORPHA:169160
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne...	OMIM:263200
Keutel Syndrome	Alopecia, Recurrent otitis media, Dermal atrophy, Recurrent sinusitis, Ventricular septal defect,...	ORPHA:85202
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Pigmentary retinopathy, Elevated circulating palmitoleylcarnitine concentration, Failure to thriv...	ORPHA:79282
Platelet-Activating Factor Acetylhydrolase Deficiency	Platelet-activating factor acetylhydrolase deficiency, Increased level of platelet-activating factor	OMIM:614278
Immunodeficiency 50	Eczematoid dermatitis	OMIM:300988
Neuropathy, Hereditary Sensory And Autonomic, Type Iib	Osteomyelitis, Acral ulceration, Episodic hyperhidrosis	OMIM:613115
Primary Sclerosing Cholangitis	Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho...	ORPHA:171
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Failure to thriv...	OMIM:613812
Intellectual Developmental Disorder, Autosomal Dominant 26	Highly arched eyebrow, Small for gestational age, Umbilical hernia, Intrauterine growth retardati...	OMIM:615834
Hutchinson-Gilford Progeria Syndrome	Alopecia, Absence of subcutaneous fat, Generalized osteoporosis, Growth delay, Osteolysis	OMIM:176670
Q Fever	Hepatosplenomegaly, Weight loss, Hepatomegaly, Purpura, Endocarditis, Osteomyelitis, Abnormality ...	ORPHA:781
Adams-Oliver Syndrome	Alopecia, Failure to thrive, Hypoplastic fingernail, Tetralogy of Fallot, Leukopenia, Abnormal pu...	ORPHA:974
Hypercalcemia, Infantile, 1	Weight loss, Hypercalcemia, Failure to thrive	OMIM:143880
Macrophage Activation Syndrome	Hypoalbuminemia, Increased circulating lactate dehydrogenase concentration, Hemophagocytosis, Hep...	ORPHA:158061
Cystic Echinococcosis	Localized skin lesion, Elevated gamma-glutamyltransferase level, Peritoneal abscess, Hyperbilirub...	ORPHA:400
Eec Syndrome	Sparse eyebrow, Coarse hair, Xerostomia, Nevus, Fine hair, Blepharitis, Decreased response to gro...	ORPHA:1896
Renpenning Syndrome 1	Joint contracture of the hand, Sparse lateral eyebrow, Synostosis of the proximal phalanx of the ...	OMIM:309500
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen...	OMIM:613404
Atelis Syndrome 1	Eczematoid dermatitis, Dry skin, Glue ear, Hypothyroidism, Cafe-au-lait spot, Bronchiectasis	OMIM:620184
Autoimmune Polyendocrinopathy Type 1	Alopecia, Hypopigmented skin patches, Increased circulating cortisol level, Chronic mucocutaneous...	ORPHA:3453
Familial Benign Chronic Pemphigus	Erythema, Skin erosion, Skin vesicle, Acantholysis, Hyperkeratosis	ORPHA:2841
7Q11.23 Microduplication Syndrome	Self-injurious behavior, Hypospadias, Unilateral renal agenesis, Enuresis, Horizontal eyebrow, Sp...	ORPHA:96121
Tbck-Related Intellectual Disability Syndrome	Skeletal muscle atrophy, Abnormal circulating lipid concentration, Decreased response to growth h...	ORPHA:488632
Weaver Syndrome	Joint contracture of the hand, Fine hair, Umbilical hernia, Melanocytic nevus, Diastasis recti, C...	OMIM:277590
Combined Immunodeficiency-Enteropathy Spectrum	Peritoneal abscess, Hepatitis, Intrauterine growth retardation, Psoriasiform dermatitis, Alopecia...	ORPHA:436252
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Fever, Elbow flexion contracture, Inability to walk, Obesity, Hypothermia, Hip contracture, Abnor...	OMIM:618493
Reactive Arthritis	Inflammation of the large intestine, Osteomyelitis, Recurrent aphthous stomatitis, Pustule, Dystr...	ORPHA:29207
Classical-Like Ehlers-Danlos Syndrome Type 2	Cellulitis, Osteopenia, Alopecia, Widened atrophic scar, Periodontitis, Umbilical hernia, Redunda...	ORPHA:536532
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Adrenal calcification, Acute...	OMIM:278000
Hepatocellular Carcinoma	Micronodular cirrhosis, Subacute progressive viral hepatitis, Hepatocellular carcinoma	OMIM:114550
Oculocutaneous Albinism Type 1A	Albinism, Thickened skin, Hypopigmentation of hair, Hyperkeratosis	ORPHA:79431
Hyperparathyroidism, Neonatal Severe	Failure to thrive, Splenomegaly, Hepatomegaly, Hypophosphatemia, Calcinosis, Anemia, Hypercalcemi...	OMIM:239200
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Alopecia, Small nail, Intrauterine growth retardation, Inguinal hernia, Cryptorchidism, Ventricul...	ORPHA:166035
Myopathic Ehlers-Danlos Syndrome	Increased variability in muscle fiber diameter, Joint contracture of the hand, Decreased muscle m...	ORPHA:536516
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Streak ovary, Cryptorchidism, Aplasia of the ovary, Osteopenia, Sparse pubic hair, Alopecia, Spar...	ORPHA:2232
Short Syndrome	Severe short stature, Alopecia, Abnormal dental enamel morphology, Inguinal hernia, Excessive wri...	ORPHA:3163
Blau Syndrome	Posterior uveitis, Erythema, Xerostomia, Skin ulcer, Abnormal salivary gland morphology, Keratiti...	ORPHA:90340
Cardiofaciocutaneous Syndrome 1	Absent eyelashes, Low posterior hairline, Short neck, Absent eyebrow, Atrial septal defect, Curly...	OMIM:115150
Primary Sjögren Syndrome	Arteritis, Dry skin, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Lichenoid ...	ORPHA:289390
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Alopecia, Atrophic scars, Milia, Corneal scarring, Nail dystrophy, Nail dysplasia, Enamel hypopla...	OMIM:226600
Alexander Disease	Precocious puberty, Self-injurious behavior, Failure to thrive, Hypothermia, Hypothyroidism, Gait...	ORPHA:58
Mitochondrial Myopathy And Sideroblastic Anemia	Generalized limb muscle atrophy, Myopathy, Distichiasis, Delayed puberty, Anemia, Scoliosis, Kyph...	ORPHA:2598
Autoimmune Polyendocrine Syndrome, Type Ii	Thymoma, Alopecia, Chronic mucocutaneous candidiasis, Hepatitis, Exocrine pancreatic insufficienc...	OMIM:269200
Kaposi Sarcoma	Papule, Hypermelanotic macule, Abnormality of the spleen, Abnormality of the liver, Skin rash, Ge...	ORPHA:33276
Spondylometaphyseal Dysplasia, X-Linked	Platyspondyly, Severe short stature, Kyphosis, Sclerosis of skull base, Knee flexion contracture,...	OMIM:313420
Hypercalcemia, Infantile, 2	Hypophosphatemia, Hypercalcemia, Failure to thrive	OMIM:616963
Bleeding Disorder, Platelet-Type, 21	Alopecia, Psoriasiform dermatitis, Eczematoid dermatitis	OMIM:617443
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Bone marrow hypocellularity, Fine hair, Premature graying of hair, Pathologic fractur...	OMIM:612199
Macrocephaly/Autism Syndrome	Coarse hair, Recurrent otitis media, Lymphopenia, Obesity, Large for gestational age, Splenomegal...	OMIM:605309
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Hypertrichosis, Scoliosis, Kyphosis, Synophrys	ORPHA:85317
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Pneumonia, Trichiasis, Atypical scarring of skin, Inflammatory abnormality of the skin, Xerostomi...	ORPHA:95455
Igg4-Related Kidney Disease	Chronic kidney disease, Abnormal mesentery morphology, Urethritis, Hematuria, Abnormality of the ...	ORPHA:449395
Spinocerebellar Ataxia 34	Erythroderma, Epidermal hyperkeratosis	OMIM:133190
Primary Biliary Cholangitis	Elevated gamma-glutamyltransferase level, Xanthelasma, Elevated circulating alkaline phosphatase ...	ORPHA:186
Nephronophthisis 2	Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ...	OMIM:602088
Phenylketonuria	Eczematoid dermatitis	ORPHA:716
Symptomatic Form Of Hfe-Related Hemochromatosis	Decreased muscle mass, Cirrhosis, Weight loss, Hepatomegaly, Chronic hepatic failure, Arthritis, ...	ORPHA:465508
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Glucagonoma	Intrahepatic cholestasis, Pituitary adenoma, Subcutaneous lipoma, Increased circulating prolactin...	ORPHA:97280
Acute Generalized Exanthematous Pustulosis	Pruritus, Predominantly dermal neutrophilic infiltrate, Pustule, Skin vesicle, Eosinophilic derma...	ORPHA:293173
Autosomal Recessive Polycystic Kidney Disease	Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Hypersplenism, Congeni...	ORPHA:731
Fucosidosis	Failure to thrive, Generalized hyperkeratosis, Hypothyroidism, Hyperhidrosis, Lipoatrophy, Abnorm...	ORPHA:349
Blue Diaper Syndrome	Increased body weight, Hypercalcemia, Elevated circulating hepatic transaminase concentration, Hy...	ORPHA:94086
Mhc Class I Deficiency 1	Chronic otitis media, Bronchiectasis, Skin ulcer, Chronic sinusitis	OMIM:604571
Srd5A3-Cdg	Elevated circulating hepatic transaminase concentration, Palmoplantar keratoderma, Spotty hyperpi...	ORPHA:324737
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Abnormal vertebral morphology, Inflammation of the large intestine, Scoliosis, Craniofacial osteo...	ORPHA:324964
Pediatric Systemic Lupus Erythematosus	Discoid lupus rash, Nephritis, Alopecia, Increased circulating lactate dehydrogenase concentratio...	ORPHA:93552
Hall-Riggs Syndrome	Platyspondyly, Coarse hair, Failure to thrive, Abnormal dental enamel morphology, Joint stiffness...	ORPHA:2107
Xeroderma Pigmentosum	Erythema, Alopecia, Thickened skin, Keratitis, Hypopigmented skin patches, Failure to thrive, Der...	ORPHA:910
Cutis Laxa, Autosomal Recessive, Type Iiib	Osteopenia, Fine hair, Elbow flexion contracture, Intrauterine growth retardation, Inguinal herni...	OMIM:614438
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Type I diabetes mellitus, Alopecia, Distal amyotrophy, Hypogonadism, Delayed menarche, Difficulty...	ORPHA:412057
Intellectual Developmental Disorder, Autosomal Dominant 48	Highly arched eyebrow, Recurrent pneumonia, Eczematoid dermatitis, Umbilical hernia, Recurrent ot...	OMIM:617751
Hemifacial Atrophy, Progressive	Patchy alopecia, Kyphosis, Poliosis	OMIM:141300
Polyendocrine-Polyneuropathy Syndrome	Proximal muscle weakness in lower limbs, Alopecia, Central hypothyroidism, Hypoglycemia, Decrease...	ORPHA:453533
Premature Aging Syndrome, Penttinen Type	Thickened skin, Keloids, Failure to thrive, Dermal atrophy, Flexion contracture of finger, Palmop...	OMIM:601812
Autoimmune Polyendocrinopathy Type 2	Alopecia, Graves disease, Hypopigmented skin patches, Primary adrenal insufficiency, Hashimoto th...	ORPHA:3143
Adrenocortical Carcinoma	Increased circulating cortisol level, Hypertrichosis, Increased urinary cortisol level, Hyperaldo...	ORPHA:1501
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Platyspondyly, Craniofacial osteosclerosis, Increased skull ossificatio...	OMIM:618476
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Sparse hair, Eczematoid dermatitis, Failure to thrive, Hyperconvex nail	OMIM:619721
Bcard Syndrome	Platyspondyly, Osteopenia, Coarse hair, Contracture of the proximal interphalangeal joint of the ...	OMIM:612394
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	High anterior hairline, Dry hair, Coarse hair, Palmoplantar keratoderma, Nail dystrophy, Ichthyos...	OMIM:620519
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hypoalbuminemia, Nephrotic syndrome, Hypertrichosis, Inability to walk, Heparan sulfate excretion...	ORPHA:505248
Digeorge Syndrome	Cholelithiasis, Recurrent pneumonia, Parathyroid hypoplasia, Umbilical hernia, Recurrent otitis m...	OMIM:188400
Superficial Epidermolytic Ichthyosis	Erythema, Palmoplantar keratoderma, Ichthyosis, Acantholysis, Thin skin	ORPHA:455
Grubben-De Cock-Borghgraef Syndrome	Dry skin, Eczematoid dermatitis	ORPHA:2101
Hyperparathyroidism 2 With Jaw Tumors	Hyperparathyroidism, Parathyroid carcinoma, Pancreatic adenocarcinoma, Recurrent pancreatitis, Pa...	OMIM:145001
Williams-Beuren Syndrome	Small nail, Premature graying of hair, Recurrent otitis media, Mitral valve prolapse, Ventricular...	OMIM:194050
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Restrictive cardiomyopathy, Abnormal heart morphology, Obesity, Joint hypermobility, ...	ORPHA:369837
Congenital Disorder Of Glycosylation, Type Iil	Inflammation of the large intestine, Failure to thrive, Dry skin, Hypohidrosis, Enamel hypoplasia...	OMIM:614576
Mcdonough Syndrome	Cryptorchidism, Cachexia, Aplasia/Hypoplasia of the abdominal wall musculature, Short stature, Sc...	ORPHA:2471
Liver Disease, Severe Congenital	Dry hair, Portal inflammation, Recurrent otitis media, Dilatation of the ventricular cavity, Hype...	OMIM:619991
Roifman Syndrome	Recurrent pneumonia, Prominent eyelashes, Eczematoid dermatitis, Recurrent otitis media, Hip cont...	ORPHA:353298
Noonan Syndrome 14	Sparse eyebrow, Hypertrophic cardiomyopathy, Dry skin, Lymphopenia, Limited elbow extension, Cryp...	OMIM:619745
Gapo Syndrome	Alopecia, Sparse eyebrow, Growth delay, Hypopigmented skin patches, Abnormal form of the vertebra...	ORPHA:2067
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Woolly hair	OMIM:607450
Johanson-Blizzard Syndrome	Alopecia, Failure to thrive, Exocrine pancreatic insufficiency, Intrauterine growth retardation, ...	ORPHA:2315
Nicolaides-Baraitser Syndrome	Preauricular skin tag, Dry hair, Eczematoid dermatitis, Periorbital wrinkles, Sparse medial eyebr...	OMIM:601358
Citrullinemia Type Ii	Abnormal eating behavior, Hepatic steatosis, Hepatomegaly, Restlessness, Hypoproteinemia, Hyperac...	ORPHA:247585
Gaucher Disease	Aortic valve calcification, Decreased HDL cholesterol concentration, Pancytopenia, Cirrhosis, Hep...	ORPHA:355
Myopathy, Tubular Aggregate, 2	Ankle flexion contracture, Foot dorsiflexor weakness, Hypocalcemia, Elevated circulating creatine...	OMIM:615883
Dyskeratosis Congenita, Autosomal Recessive 6	Bone marrow hypocellularity, Alopecia, Failure to thrive, Intrauterine growth retardation, Nail d...	OMIM:616353
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Elevated gamma-glutamyltransferase level, Painless fractures due to injury, Cholestasis, Acute he...	OMIM:256810
Albers-Schönberg Osteopetrosis	Mandibular osteomyelitis, Osteomyelitis, Hypocalcemia, Abnormal leukocyte morphology, Generalized...	ORPHA:53
Braddock-Carey Syndrome 1	Ventricular septal defect, Aortic valve prolapse, Enamel hypoplasia, Hyperlordosis, Thrombocytope...	OMIM:619980
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Hepatomegaly, Weight loss, Lymphadenopathy, Anemia, Osteopor...	ORPHA:100024
Thrombocytopenia-Absent Radius Syndrome	Pancreatic cysts, Seborrheic dermatitis, Nevus flammeus of the forehead	OMIM:274000
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated circulating hepatic transaminase concentration, Glycosuria, Hyperinsulinemia, Hypophosph...	ORPHA:263455
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Palmoplantar keratoderma, Small nail, Decreased testicular size, Nail dystrophy, Orthokeratotic h...	OMIM:610644
Isolated Sedoheptulokinase Deficiency	Cholestatic liver disease, Hepatitis, Cholestasis, Diastasis recti, Portal hypertension, Inguinal...	ORPHA:440713
Lysinuric Protein Intolerance	Skeletal muscle atrophy, Hemophagocytosis, Fine hair, Increased circulating ferritin concentratio...	OMIM:222700
Williams Syndrome	Synostosis of joints, Cryptorchidism, Overfriendliness, Ventricular septal defect, Myopathy, Bicu...	ORPHA:904
Myasthenic Syndrome, Congenital, 25, Presynaptic	Generalized amyotrophy, Myopathy, Joint hypermobility, Flexion contracture, Scoliosis, Kyphosis, ...	OMIM:618323
Rothmund-Thomson Syndrome Type 2	Erythema, Aplastic anemia, Alopecia totalis, Dermal atrophy, Cryptorchidism, Calcinosis, Neutrope...	ORPHA:221016
Mucopolysaccharidosis, Type Ii	Severe short stature, Recurrent pneumonia, Hypertrichosis, Abnormal heart valve morphology, Recur...	OMIM:309900
Acromesomelic Dysplasia, Maroteaux Type	Disproportionate short stature, Vertebral wedging, Abnormal form of the vertebral bodies, Joint s...	ORPHA:40
Lipodystrophy, Congenital Generalized, Type 4	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:613327
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Chondrocalcinosis, Osteomalacia, Multiple lipomas, Hypophosphatemia, Pancreatiti...	OMIM:600740
Vipoma	Erythema, Intrahepatic cholestasis, Pituitary adenoma, Subcutaneous lipoma, Increased circulating...	ORPHA:97282
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Platyspondyly, Thoracolumbar kyphosis, Disproportionate short stature, Lymphopenia, Hepatic cysts...	OMIM:617425
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Abnormal hair morphology, Cryptorchidism, Hernia of the abdominal wall, Short neck, Uncombable ha...	ORPHA:3082
Pituitary Adenoma 4, Acth-Secreting	Skeletal muscle atrophy, Pituitary adenoma, Striae distensae, Obesity, Biconcave vertebral bodies...	OMIM:219090
Oculocerebrocutaneous Syndrome	Alopecia, Focal dermal aplasia/hypoplasia, Cryptorchidism	OMIM:164180
Rothmund-Thomson Syndrome Type 1	Aplastic anemia, Alopecia totalis, Dermal atrophy, Cryptorchidism, Calcinosis, Neutropenia, Leuke...	ORPHA:221008
Multiple Myeloma	Osteopenia, Pathologic fracture, Elevated circulating creatinine concentration, Vertebral compres...	ORPHA:29073
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Sparse eyebrow, Coarse hair, Palmoplantar keratoderma, Dystrophic toenail, Supernumerary nipple, ...	ORPHA:1071
Koolen-De Vries Syndrome Due To A Point Mutation	Recurrent otitis media, Postnatal growth retardation, Slender build, Cryptorchidism, Overfriendli...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Recurrent otitis media, Postnatal growth retardation, Slender build, Cryptorchidism, Overfriendli...	ORPHA:363958
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Weight loss, Hyperhidrosis, Lymphadenopathy, Hepatomegaly, Pruritus	ORPHA:86893
Bone Dysplasia, Lethal Holmgren Type	Rhizomelia, Failure to thrive, Hypertrophic cardiomyopathy, Redundant neck skin, Joint hypermobil...	ORPHA:1842
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Kyphosis, Elevated circulating creatine kinase concentration, Proximal amyotrophy, Hyperlordosis,...	OMIM:617404
1P36 Deletion Syndrome	Abnormality of the spleen, Cryptorchidism, Myopathy, Hepatic steatosis, Generalized hirsutism, Po...	ORPHA:1606
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Proximal muscle weakness in lower limbs, Kyphosis, Lower limb muscle weakness, Hip contracture, K...	OMIM:615290
Adnp Syndrome	Abnormal temper tantrums, High anterior hairline, Urinary incontinence, Oral-pharyngeal dysphagia...	ORPHA:404448
Aspergillosis	Pneumonia, Localized skin lesion, Keratitis, Hepatitis, Abnormality of the vertebral column, Oste...	ORPHA:1163
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Osteopenia, Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Umbilical hernia, Cholestasis, In...	OMIM:610199
2Q32Q33 Microdeletion Syndrome	Decreased testicular size, Sparse hair, Fine hair	ORPHA:251019
Sting-Associated Vasculopathy, Infantile-Onset	Erythema, Skeletal muscle atrophy, Pustular rash, Failure to thrive, Lymphopenia, Joint stiffness...	OMIM:615934
Immunodeficiency 85 And Autoimmunity	Decreased proportion of memory B cells, Reduced natural killer cell count, Eczematoid dermatitis,...	OMIM:619510
Orthostatic Hypotension 1	Hypomagnesemia, Intermittent hypothermia, Weakness of facial musculature, Increased blood urea ni...	OMIM:223360
Aicardi-Goutieres Syndrome 9	Dry skin, Hepatosplenomegaly, Hepatic steatosis, Chilblains, Weight loss, Hepatomegaly, Anemia, H...	OMIM:619487
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Broad-based gait, Restlessness, Fine hair, Decreased testicular size, Cryptorchidism, Self-mutila...	ORPHA:251028
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Elevated urinar...	ORPHA:42
Intellectual Developmental Disorder, Autosomal Dominant 34	Synophrys, Coarse hair, Curly hair	OMIM:616351
Mpdu1-Cdg	Eczematoid dermatitis, Decreased response to growth hormone stimulation test, Erythematous plaque...	ORPHA:79323
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Splenomegaly, Skin rash, Weight loss, Hyperhidrosis, Lymphadenopathy...	ORPHA:391
Fetal Cytomegalovirus Syndrome	Elevated circulating hepatic transaminase concentration, Hepatitis, Intrauterine growth retardati...	ORPHA:294
Ogden Syndrome	Fine hair, Capillary malformation, Postnatal growth retardation, Inguinal hernia, Cryptorchidism,...	ORPHA:276432
Bullous Pemphigoid	Erythema, Eczematoid dermatitis, Psoriasiform dermatitis, Weight loss, Macule, Pruritus	ORPHA:703
Hurler-Scheie Syndrome	Growth delay, Camptodactyly of finger, Umbilical hernia, Joint stiffness, Contracture of the dist...	OMIM:607015
Hereditary Elliptocytosis	Cholelithiasis, Stomatocytosis, Neonatal hyperbilirubinemia, Skin ulcer, Postnatal growth retarda...	ORPHA:288
Mucopolysaccharidosis, Type Iiid	Recurrent otitis media, Short neck, Ovoid thoracolumbar vertebrae, Hepatomegaly, Inguinal hernia,...	OMIM:252940
Onychotrichodysplasia And Neutropenia	Sparse pubic hair, Hypoplastic fingernail, Trichorrhexis nodosa, Curly eyelashes, Concave nail, C...	OMIM:258360
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Atrophic scars, ...	OMIM:130060
Meckel Syndrome, Type 8	Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys	OMIM:613885
Blau Syndrome	Flexion contracture of toe, Uveitis, Nongranulomatous uveitis, Eczematoid dermatitis, Skin ulcer,...	OMIM:186580
Adrenoleukodystrophy	Alopecia, Lower limb muscle weakness, Urinary bladder sphincter dysfunction, Hypogonadism, Primar...	OMIM:300100
Aggressive Systemic Mastocytosis	Hepatosplenomegaly, Pancytopenia, Hypersplenism, Elevated circulating alkaline phosphatase concen...	ORPHA:98850
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Fine hair	ORPHA:3236
Roifman Syndrome	Recurrent pneumonia, Prominent eyelashes, Eczematoid dermatitis, Recurrent otitis media, Hip cont...	OMIM:616651
Tietz Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen...	ORPHA:42665
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Hypocalcemia, Elevated circulating alkaline phosphatase concentration, Hypophosphatem...	OMIM:619073
Multiple Endocrine Neoplasia Type 2	Thyroid C cell hyperplasia, Cervical lymphadenopathy, Pheochromocytoma, Pallor, Reduced subcutane...	ORPHA:653
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Highly arched eyebrow, Recurrent pneumonia, Eczematoid dermatitis, Umbilical hernia, Recurrent ot...	ORPHA:500159
Congenital Disorder Of Glycosylation, Type It	Intrahepatic cholestasis, Dilated cardiomyopathy, Elevated circulating hepatic transaminase conce...	OMIM:614921
Shashi-Pena Syndrome	Highly arched eyebrow, Hypertrichosis, Capillary malformation, Long eyelashes, Nevus flammeus of ...	OMIM:617190
Brachyolmia Type 1, Hobaek Type	Platyspondyly, Osteopenia, Kyphosis, Squared-off platyspondyly, Intervertebral space narrowing, T...	OMIM:271530
Kawasaki Disease	Hypoalbuminemia, Abnormality of nail color, Double outlet right ventricle with subpulmonary ventr...	ORPHA:2331
Acrodysostosis 2 With Or Without Hormone Resistance	Hypospadias, Fair hair, Congenital hypothyroidism, Obesity, Cryptorchidism, Hyperactivity, Blue i...	OMIM:614613
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Multiple rows of eyelashes, Facial hirsutism, Rhizo-meso-acromelic limb shortening, Thick eyebrow...	ORPHA:163654
Legionnaires Disease	Cellulitis, Bone marrow hypocellularity, Hepatitis, Lymphopenia, Splenomegaly, Infectious encepha...	ORPHA:549
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Camptodactyly of finger, Decreased testicular size, Cryptorchidism, Patchy alopecia, Multiple caf...	ORPHA:85279
Sporadic Pheochromocytoma/Secreting Paraganglioma	Pallor, Weight loss, Adrenal pheochromocytoma, Hypercalcemia, Extraadrenal pheochromocytoma, Epis...	ORPHA:276621
Wagro Syndrome	Decreased testicular size, Obesity, Nephroblastoma, Proteinuria, Polyphagia, Aggressive behavior,...	OMIM:612469
Dahlberg-Borer-Newcomer Syndrome	Hypocalcemia, Mitral valve prolapse, Hypoparathyroidism, Generalized hirsutism, Hypohidrosis, Ano...	ORPHA:1563
Ogden Syndrome	Facial wrinkling, Hyperbilirubinemia, Cryptorchidism, Torticollis, Jaundice, Minimal subcutaneous...	OMIM:300855
Pseudohypoparathyroidism Type 1B	Pituitary resistance to thyroid hormone, Hyperphosphatemia, Decreased response to growth hormone ...	ORPHA:94089
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Left ventricular noncompaction, Hypothermia	OMIM:616501
Adams-Oliver Syndrome 2	Alopecia, Small nail, Low anterior hairline, Aplasia cutis congenita, Limb hypertonia	OMIM:614219
Chanarin-Dorfman Syndrome	Hepatomegaly, Alopecia, Hepatic steatosis, Myopathy	OMIM:275630
Cockayne Syndrome B	Dry hair, Limitation of joint mobility, Abnormal hair morphology, Dry skin, Dermal atrophy, Postn...	OMIM:133540
Rodrigues Blindness	Sparse hair, Fine hair	OMIM:268320
Cartilage-Hair Hypoplasia	Sparse eyebrow, Hypoplasia of the odontoid process, Absent pubertal growth spurt, Fair hair, Fine...	OMIM:250250
Alg9-Cdg	Hypoplasia of the musculature, Periportal fibrosis, Hypoplasia of the bladder, Hypertrichosis, He...	ORPHA:79328
Chromosome 2Q37 Deletion Syndrome	Highly arched eyebrow, Obesity, Hypothyroidism, Eczematoid dermatitis	OMIM:600430
Renal-Hepatic-Pancreatic Dysplasia 2	Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Hepatomeg...	OMIM:615415
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Coronal craniosynostosis, Alopecia, Fine hair, Intrauterine growth retardation, Cryptorchidism	ORPHA:228390
Autoinflammation With Arthritis And Dyskeratosis	Failure to thrive, Dry skin, Punctate keratitis, Keratoconjunctivitis sicca, Palmoplantar hyperke...	OMIM:617388
Pheochromocytoma--Islet Cell Tumor Syndrome	Pheochromocytoma, Hyperhidrosis, Axillary freckling, Hypercalcemia, Cafe-au-lait spot	OMIM:171420
Idiopathic Achalasia	Recurrent aspiration pneumonia, Weight loss, Decreased circulating prealbumin concentration	ORPHA:930
Sialidosis Type 2	Skeletal muscle atrophy, Umbilical hernia, Splenomegaly, Inguinal hernia, Hepatomegaly, Osteoporo...	ORPHA:87876
Adiposis Dolorosa	Sparse pubic hair, Xerostomia, Dry skin, Obesity, Sparse axillary hair, Hypothyroidism, Arthritis...	ORPHA:36397
Ullrich Congenital Muscular Dystrophy	Spinal rigidity, Increased variability in muscle fiber diameter, Increased endomysial connective ...	ORPHA:75840
Neuroocular Syndrome 1	Highly arched eyebrow, Small nail, Umbilical hernia, Hyperextensibility of the finger joints, Lon...	OMIM:619539
Gapo Syndrome	Alopecia, Sparse eyebrow, Growth delay, Epidermoid cyst, Umbilical hernia, Breast hypoplasia, Red...	OMIM:230740
Bresek Syndrome	Alopecia, Growth delay, Decreased testicular size, Intrauterine growth retardation, Cryptorchidis...	ORPHA:85284
Irida Syndrome	Ichthyosis, Pallor, Hyperkeratosis	ORPHA:209981
Pseudohypoparathyroidism Type 1C	Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Hyperpho...	ORPHA:79444
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Hyperparathyroidism, Hyperphosphatemia, Hyperostosis, Elevated circulating alkaline phosphatase c...	OMIM:211900
Lipodystrophy, Familial Partial, Type 2	Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Hyperglycemia, Hyp...	OMIM:151660
Malakoplakia	Inflammatory abnormality of the skin, Skin ulcer, Urinary bladder inflammation, Skin rash, Orchit...	ORPHA:556
Diffuse Cutaneous Systemic Sclerosis	Flexion contracture, Xerostomia, Skin ulcer, Arthritis	ORPHA:220393
Galactose Epimerase Deficiency	Splenomegaly, Weight loss, Hepatomegaly, Jaundice, Growth delay	ORPHA:79238
Osteomesopyknosis	Sclerotic vertebral body, Abnormal form of the vertebral bodies, Abnormal cortical bone morpholog...	ORPHA:2777
Intellectual Disability, Buenos-Aires Type	Cuboid-shaped thoracolumbar vertebral bodies, Fine hair, Umbilical hernia, Abnormal fingernail mo...	ORPHA:3079
Mucopolysaccharidosis Type 7	Anterior beaking of lower thoracic vertebrae, Hepatitis, Umbilical hernia, Joint stiffness, Epiph...	ORPHA:584
Ullrich Congenital Muscular Dystrophy 1A	Increased variability in muscle fiber diameter, Slender build, Follicular hyperkeratosis, Tortico...	OMIM:254090
Intellectual Developmental Disorder, Autosomal Recessive 79	Eczematoid dermatitis	OMIM:620393
Smith-Kingsmore Syndrome	Rhizomelia, Umbilical hernia, Large for gestational age, Diastasis recti, Cryptorchidism, Thrombo...	OMIM:616638
Leigh Syndrome	Myopathy, 3-Methylglutaconic aciduria, Ataxia, Nephrotic syndrome, Dysphagia, Choreoathetosis, Ge...	ORPHA:506
15Q24 Microdeletion Syndrome	High anterior hairline, Small for gestational age, Failure to thrive, Abnormal heart morphology, ...	ORPHA:94065
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Decreased serum estradiol, Sparse pubic hair, Elevated circulating luteinizing hormone level, Pri...	ORPHA:90796
Turner Syndrome Due To Structural X Chromosome Anomalies	Inflammation of the large intestine, Recurrent otitis media, Postnatal growth retardation, Hepati...	ORPHA:99413
Mosaic Monosomy X	Inflammation of the large intestine, Recurrent otitis media, Postnatal growth retardation, Hepati...	ORPHA:99228
Monosomy X	Inflammation of the large intestine, Recurrent otitis media, Postnatal growth retardation, Hepati...	ORPHA:99226
Turner Syndrome	Inflammation of the large intestine, Recurrent otitis media, Postnatal growth retardation, Hepati...	ORPHA:881
Spondyloenchondrodysplasia	Pneumonia, Platyspondyly, Hepatitis, Decreased response to growth hormone stimulation test, Vitil...	ORPHA:1855
Mycosis Fungoides	Erythema, Eczematoid dermatitis, Psoriasiform dermatitis, Skin plaque, Pruritus	OMIM:254400
Rothmund-Thomson Syndrome, Type 2	Alopecia, Sparse eyebrow, Annular pancreas, Premature graying of hair, Dermal atrophy, Nail dystr...	OMIM:268400
Fanconi-Bickel Syndrome	Nephropathy, Elevated circulating alkaline phosphatase concentration, Hypophosphatemia, Elevated ...	ORPHA:2088
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic tetany, Postnatal growth retardation, Intrauterine growth retardation, Hypocalcemia,...	ORPHA:93324
Cholestasis-Lymphedema Syndrome	Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Splenomegaly, Neonatal c...	OMIM:214900
Ethylene Glycol Poisoning	Hyperkalemia, Renal insufficiency, Cyanosis, Hypocalcemia, Hypothermia, Hematuria, Renal tubular ...	ORPHA:31826
Tetrasomy 12P	Sparse eyebrow, Joint hypermobility, Short neck, Hypohidrosis, Cachexia, Short stature, Sparse hair	ORPHA:884
Dopamine Beta-Hydroxylase Deficiency	Insulin resistance, Elevated urinary dopamine level, Hypoglycemia, Elevated circulating creatinin...	ORPHA:230
Tyrosinemia Type 2	Hyperhidrosis, Palmoplantar keratoderma, Abnormality of the nail, Hyperkeratosis	ORPHA:28378
Hurler Syndrome	Hypoplasia of the odontoid process, Recurrent otitis media, Hepatosplenomegaly, Endocardial fibro...	OMIM:607014
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Acute leukemia, Inflammation of the large intestine, Microcytic a...	ORPHA:906
Immunodeficiency With Hyper-Igm, Type 1	Hepatitis, Absence of lymph node germinal center, Failure to thrive, Chronic hepatitis, Splenomeg...	OMIM:308230
Sandhoff Disease	Hepatomegaly, Kyphosis, Splenomegaly, Failure to thrive	ORPHA:796
Barth Syndrome	Elevated monolysocardiolipin/cardiolipin ratio, Fair hair, Failure to thrive, 3-Methylglutaconic ...	OMIM:302060
Oculocerebrocutaneous Syndrome	Preauricular skin tag, Alopecia, Hypopigmented skin patches, Abnormal fingernail morphology, Skin...	ORPHA:1647
Neuroectodermal Melanolysosomal Disease	Hypopigmentation of the skin, Premature graying of hair, Generalized hyperpigmentation, Ataxia, H...	ORPHA:33445
Isolated Congenital Hypoglossia/Aglossia	Weight loss, Aspiration pneumonia	ORPHA:141152
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Small...	OMIM:618484
Hyperparathyroidism 1	Hypercalcemia, Primary hyperparathyroidism	OMIM:145000
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Skin ulcer, Nail dystrophy, Amelogenesis imperfecta, Recurrent loss of toenails and fingernails, ...	OMIM:245660
Cranioectodermal Dysplasia 1	Malformation of the hepatic ductal plate, Hepatic fibrosis, Hepatic failure, Short nail, Rhizomel...	OMIM:218330
Angelman Syndrome Due To A Point Mutation	Iris hypopigmentation, Broad-based gait, Hypopigmentation of the skin, Heat intolerance, Inapprop...	ORPHA:411511
Cortisone Reductase Deficiency 2	Insulin resistance, Obesity, Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (T...	OMIM:614662
Mogs-Cdg	Alopecia, Fair hair, Long eyelashes, Hepatosplenomegaly, Hirsutism, Cardiomegaly, Thoracic scolio...	ORPHA:79330
Mitochondrial Complex I Deficiency, Nuclear Type 15	Failure to thrive, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Myopathy, Flexio...	OMIM:618237
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Joint contracture of the hand, Keratitis, Eczematoid dermatitis, Recurrent otitis media, Bronchie...	OMIM:618523
Immunoglobulin A Vasculitis	Erythema, Skin ulcer, Episcleritis, Skin rash, Orchitis, Pustule, Infectious encephalitis, Macule...	ORPHA:761
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Erythema, Recurrent otitis media, Dry skin, Hepatosplenomegaly, Cholestasis, Hepatic steatosis, H...	OMIM:619503
Bullous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis, Pruritus, Profuse pigmented skin lesions, Erythroderma	ORPHA:280785
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Rickets, Failure to thrive, Hypocalcemia, Sparse bone trabeculae...	OMIM:600081
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Camptodactyly, Short stature, Kyphosis	OMIM:618453
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed epiphyseal ossification, Rickets, Failure to thrive, Secondary hyperparathyroidism, Hypoc...	OMIM:264700
Stuve-Wiedemann Syndrome 2	Camptodactyly, Eczematoid dermatitis	OMIM:619751
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Foot dorsiflexor weakness, Lower limb amyotrophy, Scoliosis, Kyphosis, Upper limb amyotrophy	OMIM:617087
Monosomy 18P	Alopecia, Kyphoscoliosis, Low posterior hairline, Short neck, Short stature	ORPHA:1598
Geroderma Osteodysplasticum	Platyspondyly, Osteopenia, Severe short stature, Periodontitis, Premature skin wrinkling, Abnorma...	OMIM:231070
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Enterocolitis, Hyperkeratosis, Failure to thrive, Decreased pineal volume	OMIM:301108
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Hypoplasia of penis, Hypothermia, Cryptorchidism	ORPHA:168593
Dermatitis Herpetiformis	Dental enamel pits, Erythema, Eczematoid dermatitis, Skin vesicle, Macule, Pruritus	ORPHA:1656
19P13.12 Microdeletion Syndrome	Intrauterine growth retardation, Obesity, Hyperlipidemia, Hepatic steatosis, Cryptorchidism, Vent...	ORPHA:254346
2Q37 Microdeletion Syndrome	Highly arched eyebrow, Sparse eyebrow, Eczematoid dermatitis, Supernumerary nipple, Umbilical her...	ORPHA:1001
Piebald Trait-Neurologic Defects Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom...	ORPHA:2885
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Cryptorchidism, Ventricular septal defect, Low posterior hairline, Short neck, Atrial septal defe...	OMIM:617506
Mody	Nephropathy, Insulin-resistant diabetes mellitus, Hyperglycemia, Abnormality of the kidney, Eleva...	ORPHA:552
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Cholestasis, Hepatic steatosis, Polycystic ovaries, Increased body weight, Myoglobinuria, Cirrhos...	ORPHA:264580
Christianson Syndrome	Decreased muscle mass, Inappropriate laughter, Thick eyebrow, Joint hypermobility, Cachexia, Arth...	ORPHA:85278
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Failure to thrive, Decreased liver function, Acute hepatitis, Hyperornithinemia, Hyperammonemia, ...	OMIM:238970
Noonan Syndrome 9	Sparse eyebrow, Cryptorchidism, Curly hair	OMIM:616559
Noonan Syndrome 10	Sparse eyebrow, Hypertrophic cardiomyopathy, Mitral stenosis, Mitral valve prolapse, Ventricular ...	OMIM:616564
Dyskeratosis Congenita, X-Linked	Premature graying of hair, Dermal atrophy, Pancytopenia, Cryptorchidism, Sparse eyelashes, Acute ...	OMIM:305000
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Premature adrenarche, Decreased circulating renin level, Polycystic ovaries, Renal salt wasting, ...	ORPHA:90795
Pseudohypoparathyroidism Type 1A	Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Hyperpho...	ORPHA:79443
Alström Syndrome	Chronic kidney disease, Testicular fibrosis, Elevated gamma-glutamyltransferase level, Frontal ba...	ORPHA:64
Gomez-Lopez-Hernandez Syndrome	Short stature, Craniosynostosis, Alopecia, Decreased response to growth hormone stimulation test	OMIM:601853
Lateral Meningocele Syndrome	Keloids, Coarse hair, Decreased muscle mass, Umbilical hernia, Sclerosis of skull base, Inguinal ...	OMIM:130720
Immunodeficiency, Common Variable, 10	Recurrent pneumonia, Decreased response to growth hormone stimulation test, Alopecia totalis, Rec...	OMIM:615577
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Eleva...	ORPHA:71212
Helsmoortel-Van Der Aa Syndrome	Enuresis nocturna, High anterior hairline, Failure to thrive, Recurrent urinary tract infections,...	OMIM:615873
Citrullinemia, Type Ii, Neonatal-Onset	Elevated gamma-glutamyltransferase level, Hyperbilirubinemia, Hyperthreoninemia, Elevated circula...	OMIM:605814
Grfoma	Intrahepatic cholestasis, Cholelithiasis, Pituitary adenoma, Subcutaneous lipoma, Increased circu...	ORPHA:97261
Brittle Cornea Syndrome 1	Dentinogenesis imperfecta, Atypical scarring of skin, Molluscoid pseudotumors, Spondylolisthesis,...	OMIM:229200
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Aortic valve calcification, Bacterial endocarditis, Cholelithiasis, Hepatic fibrosis, Thoracolumb...	ORPHA:2072
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam...	ORPHA:69663
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Hepatitis, Acute hepatic failure, Failure to thrive in infancy, Hepatosplenomegaly, Pancytopenia,...	ORPHA:228426
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation, Hypospadias	ORPHA:1355
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Hirsutism, Scoliosis, Kyphosis, Synophrys	OMIM:300861
Parathyroid Carcinoma	Chondrocalcinosis, Lipoma, Parathyroid carcinoma, Pancreatic adenocarcinoma, Abnormal parathyroid...	ORPHA:143
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hyperparathyroidism, Hypercalcemia, Failure to thrive	OMIM:239199
Noonan Syndrome 4	Sparse eyebrow, High anterior hairline, Hypertrophic cardiomyopathy, Large for gestational age, C...	OMIM:610733
Aicardi-Goutieres Syndrome 7	Pancytopenia, Hepatic steatosis, Chilblains, Weight loss, Hepatomegaly, Atrophic gastritis, Hyper...	OMIM:615846
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Recurrent hypoglycemia, Rhabdomyolysis, Polycystic ovaries, Increased body weight, Myoglobinuria,...	ORPHA:79240
Trichohepatoneurodevelopmental Syndrome	Recurrent otitis media, Elevated circulating alkaline phosphatase concentration, Ventricular sept...	OMIM:618268
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Sparse eyebrow, Patent foramen ovale, Kyphoscoliosis, Hyposegmentation of neutrophil nuclei, Atri...	OMIM:620075
Zollinger-Ellison Syndrome	Erythema, Hyperparathyroidism, Pituitary adenoma, Lipoma, Pituitary prolactin cell adenoma, Pitui...	ORPHA:913
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Highly arched eyebrow, Intrauterine growth retardation, Thick eyebrow, Redundant neck skin, Ventr...	OMIM:617360
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Disproportionate short stature, Hypopigmented skin patches, Fine hair, Dry skin, Intrauterine gro...	ORPHA:2637
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Nevus, Pilomatrixoma, Multinodular goiter, Lipoma, Hyperkeratosis	OMIM:620189
Hypothyroidism, Congenital, Nongoitrous, 2	Elevated circulating thyroid-stimulating hormone concentration, Goiter, Umbilical hernia, Decreas...	OMIM:218700
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Abnormal vertebral morphology, Alopecia, Truncal obesity, Supernumerary nipple	ORPHA:3224
Adult-Onset Autosomal Dominant Leukodystrophy	Temperature instability, Urinary retention, Recurrent urinary tract infections, Urinary urgency, ...	ORPHA:99027
Catastrophic Antiphospholipid Syndrome	Skin ulcer, Microangiopathic hemolytic anemia, Abnormal heart valve morphology, Coombs-positive h...	ORPHA:464343
Glycogen Storage Disease Ixa1	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Hyperuricemi...	OMIM:306000
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Failure to thrive, Mitral valve prolapse, Joint hypermobility, Hyperlordosis, Atrial septal defec...	OMIM:300986
Immunodeficiency 27A	Pneumonia, Hypoalbuminemia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased inflammator...	OMIM:209950
Chromosome Xq26.3 Duplication Syndrome	Pituitary adenoma, Increased circulating prolactin concentration, Hypopituitarism, Polyphagia, El...	OMIM:300942
Hallermann-Streiff Syndrome	Alopecia, Sparse eyebrow, Tracheomalacia, Abdominal situs inversus, Sparse body hair, Dermal atro...	ORPHA:2108
Pancreatic Lipase Deficiency	Steatorrhea, Hypocholesterolemia	OMIM:614338
Arthrogryposis, Distal, Type 4	Osteopenia, Camptodactyly of 2nd-5th fingers, Low anterior hairline, Low posterior hairline, Lumb...	OMIM:609128
Lymphatic Malformation 12	Hydrocele testis, Hyperkeratosis, Inguinal hernia	OMIM:620014
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero...	ORPHA:98855
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Failure to thrive in infancy, Hypoplasia of the thymus, Small for gestational age, Eczematoid der...	OMIM:617241
Encephalocraniocutaneous Lipomatosis	Alopecia, Subcutaneous lipoma, Nevus psiloliparus, Linear hyperpigmentation, Cryptorchidism, Vent...	OMIM:613001
Spinocerebellar Ataxia-Dysmorphism Syndrome	Coarse hair, Joint hypermobility, Short stature, Spina bifida occulta, Reduced bone mineral density	ORPHA:1185
Immunodeficiency 48	Pneumonia, Eczematoid dermatitis, Failure to thrive	OMIM:269840
Difference Of Sex Development-Intellectual Disability Syndrome	Low posterior hairline, Short neck, Abnormal hair pattern, Spina bifida occulta, Reduced bone min...	ORPHA:2983
Microsporidiosis	Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke...	ORPHA:2552
Multiple Endocrine Neoplasia, Type I	Pituitary adenoma, Subcutaneous lipoma, Increased circulating prolactin concentration, Pituitary ...	OMIM:131100
Oculopharyngodistal Myopathy	Proximal muscle weakness in upper limbs, Distal lower limb amyotrophy, Distal upper limb amyotrop...	ORPHA:98897
Trisomy 20P	Platyspondyly, Highly arched eyebrow, Coarse hair, Abnormal form of the vertebral bodies, Camptod...	ORPHA:261318
Intellectual Disability And Myopathy Syndrome	Spotty hypopigmentation, Atopic dermatitis, Cafe-au-lait spot, Achilles tendon contracture	OMIM:619719
Avian Influenza	Pneumonia, Hypoalbuminemia, Myelitis, Elevated circulating hepatic transaminase concentration, In...	ORPHA:454836
Ruvalcaba Syndrome	Synostosis of carpal bones, Hypopigmented skin patches, Abnormal vertebral epiphysis morphology, ...	ORPHA:3121
Mandibulofacial Dysostosis With Alopecia	Preauricular skin tag, Alopecia, Preauricular pit, Sparse eyelashes, Bicuspid aortic valve	OMIM:616367
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Osteomyelitis, Foot osteomyelitis, Skeletal muscle atrophy, Acral ulceration	OMIM:162400
Cockayne Syndrome A	Dry hair, Limitation of joint mobility, Dry skin, Reduced subcutaneous adipose tissue, Hip contra...	OMIM:216400
Hypophosphatemic Rickets And Hyperparathyroidism	Hyperparathyroidism, Rickets, Hypophosphatemic rickets, Parathyroid hyperplasia, Hypophosphatemia...	OMIM:612089
Kindler Epidermolysis Bullosa	Erythema, Atypical scarring of skin, Inflammation of the large intestine, Palmoplantar keratoderm...	ORPHA:2908
Melioidosis	Pneumonia, Cellulitis, Unusual skin infection, Foot osteomyelitis, Cutaneous abscess, Hepatitis, ...	ORPHA:31202
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Postnatal growth retardation, Hypocalcemia	OMIM:615361
Chops Syndrome	Coarse hair, Tracheomalacia, Aspiration pneumonia, Long eyelashes, Thick eyebrow, Obesity, Spleno...	OMIM:616368
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Hyperphosphatemia, Metacarpal periosteal thickening, Parathyroid hyperplasia, Calvari...	OMIM:617994
Multiple Endocrine Neoplasia Type 1	Pituitary prolactin cell adenoma, Pituitary thyrotropic cell adenoma, Pituitary null cell adenoma...	ORPHA:652
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Aortic valve stenosis, Highly arched eyebrow, Juvenile myelomonocytic leukemia, Fine hair, Failur...	OMIM:613563
Inflammatory Skin And Bowel Disease, Neonatal, 2	Recurrent pneumonia, Failure to thrive, Long eyelashes, Pustule, Papule	OMIM:616069
Beckwith-Wiedemann Syndrome	Nephrocalcinosis, Pancreatic hyperplasia, Adrenocortical cytomegaly, Renal cortical cysts, Diasta...	OMIM:130650
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy	Eczematoid dermatitis	OMIM:619157
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Acne, Hirsutism	OMIM:612847
Rhizomelic Chondrodysplasia Punctata, Type 2	Failure to thrive, Inguinal hernia, Hip contracture, Flexion contracture, Decreased circulating p...	OMIM:222765
Craniopharyngioma	Increased circulating prolactin concentration, Hypopituitarism, Hypogonadism, Obesity, Central ad...	ORPHA:54595
X-Linked Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero...	ORPHA:98863
Hereditary Pheochromocytoma-Paraganglioma	Pallor, Weight loss, Adrenal pheochromocytoma, Hypercalcemia, Extraadrenal pheochromocytoma, Epis...	ORPHA:29072
Ppoma	Intrahepatic cholestasis, Cholelithiasis, Pituitary adenoma, Subcutaneous lipoma, Increased circu...	ORPHA:97278
Somatostatinoma	Intrahepatic cholestasis, Pituitary adenoma, Subcutaneous lipoma, Increased circulating prolactin...	ORPHA:97283
Abnormal Hair, Joint Laxity, And Developmental Delay	Alopecia, Sparse lateral eyebrow, Small nail, Trichorrhexis nodosa, Recurrent otitis media, Joint...	OMIM:261990
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Frontal upsweep of hair, Cryptorchidism, Scoliosis, Kyphosis, Hyperextensibility of the finger jo...	OMIM:619797
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Platyspondyly, Osteopenia, Carpal synostosis, Atrophic scars, Increased susceptibility to fractur...	OMIM:615349
Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero...	ORPHA:98853
Noonan Syndrome 2	Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Low posterior hairline, Bicuspi...	OMIM:605275
Congenital Myopathy 22A, Classic	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi...	OMIM:620351
Protoporphyria, Erythropoietic, 1	Erythema, Cholelithiasis, Pruritus, Eczematoid dermatitis	OMIM:177000
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Skin ulcer, Lymphadenopathy	ORPHA:424019
Autosomal Erythropoietic Protoporphyria	Erythema, Cholelithiasis, Pruritus, Eczematoid dermatitis	ORPHA:79278
Congenital Muscular Dystrophy Due To Lmna Mutation	Limitation of joint mobility, Skeletal muscle atrophy, Myopathy, Joint hypermobility, Cachexia, H...	ORPHA:157973
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Alopecia, Adrenocorticotropin deficient adrenal insufficiency, Failure to thrive, Recurrent hypog...	ORPHA:293978
Subaortic Stenosis-Short Stature Syndrome	Synostosis of carpal bones, Abnormal circulating lipid concentration, Obesity, Inguinal hernia, B...	ORPHA:3191
Rett Syndrome	Skeletal muscle atrophy, Failure to thrive, Increased serum leptin, Difficulty walking, Inability...	ORPHA:778
Noonan Syndrome	Abnormality of the spleen, Postnatal growth retardation, Cryptorchidism, Low posterior hairline, ...	ORPHA:648
Immunodeficiency 82 With Systemic Inflammation	Pustular rash, Osteomalacia, Recurrent otitis media, Follicular hyperplasia, Weight loss, Elevate...	OMIM:619381
Marburg Hemorrhagic Fever	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Fever, Hypoglycemia, El...	ORPHA:99826
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Failure to thrive in infancy, Osteomyelitis, Skin rash, Pustule, Hyperkeratosis, Stomatitis	OMIM:612852
Cystinosis, Nephropathic	Decreased circulating carnitine concentration, Myopathy, Hematuria, Hypophosphatemia, Weight loss...	OMIM:219800
Horizontal Gaze Palsy With Progressive Scoliosis	Short neck, Scoliosis, Kyphosis	ORPHA:2744
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Inflammatory abnormality of the skin, Lymphopenia, Hepatosplenomegaly, Autoimmune thrombocytopeni...	ORPHA:391487
Leukocyte Adhesion Deficiency	Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome...	ORPHA:2968
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Foot acroosteolysis, Painless fractures due to injury, Acral ulceration, Osteolytic defects of th...	OMIM:201300
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Hypopigmented skin patches, Capillary malformation, Large for gestational age, Diastasis recti, C...	ORPHA:457485
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Highly arched eyebrow, Dry skin, Cryptorchidism, Hirsutism, Low anterior hairline, Broad eyebrow,...	OMIM:619244
Intellectual Developmental Disorder, Autosomal Dominant 23	Low anterior hairline, Hyperlordosis, Scoliosis, Kyphosis, Sacral dimple, Synophrys	OMIM:615761
Lmna-Related Cardiocutaneous Progeria Syndrome	Alopecia universalis, Premature graying of hair, Premature skin wrinkling, Papillary renal cell c...	ORPHA:363618
Eosinophilic Fasciitis	Cellulitis, Abnormal eosinophil morphology, Fasciitis, Myositis, Muscular edema, Eosinophilia, We...	ORPHA:3165
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Preauricular skin tag, Eczematoid dermatitis, Obesity, Cryptorchidism, Pseudohypoparathyroidism	ORPHA:464288
Amoebiasis Due To Free-Living Amoebae	Pneumonia, Myocardial necrosis, Increased red blood cell count, Unusual skin infection, Skin ulce...	ORPHA:68
Kaposiform Lymphangiomatosis	Fever, Hepatosplenomegaly, Splenomegaly, Ecchymosis, Abnormal spleen morphology, Multiple renal c...	ORPHA:464329
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Iris hypopigmentation, Broad-based gait, Hypopigmentation of the skin, Heat intolerance, Inapprop...	ORPHA:98794
Osteopetrosis, Autosomal Recessive 5	Hepatic failure, Growth delay, Cranial hyperostosis, Extramedullary hematopoiesis, Hepatosplenome...	OMIM:259720
Pseudohypoparathyroidism, Type Ic	Hyperphosphatemia, Hypocalcemic tetany, Obesity, Hypocalcemia, Pseudohypoparathyroidism, Short ne...	OMIM:612462
Kleefstra Syndrome 2	Thick eyebrow, Scoliosis, Kyphosis, Growth delay	OMIM:617768
Congenital Megacalycosis	Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R...	ORPHA:93109
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Neutrophilia, Minimal change glomerulonephritis, Eczematoid dermatitis, Hepatitis, Intrauterine g...	OMIM:620565
Hennekam Syndrome	Erysipelas, Camptodactyly of finger, Lymphopenia, Mild postnatal growth retardation, Splenomegaly...	ORPHA:2136
Pearson Syndrome	Postnatal growth retardation, Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Hep...	ORPHA:699
Wilson Disease	Hypouricemia, Osteomalacia, Acute hepatic failure, Hyperbilirubinemia, Limb muscle weakness, Hepa...	OMIM:277900
Keratolytic Winter Erythema	Pustule, Erythema, Hyperhidrosis	ORPHA:50943
Complement Component 4B Deficiency	Recurrent otitis media, Recurrent pneumonia, Recurrent sinusitis, Chronic active hepatitis	OMIM:614379
Cranioectodermal Dysplasia 3	Rhizomelia, Short nail, Fine hair, Dry skin, Joint hypermobility, Cutis laxa, Sagittal craniosyno...	OMIM:614099
Caspase 8 Deficiency	Pneumonia, Eczematoid dermatitis, Failure to thrive	OMIM:607271
Granulomatosis With Polyangiitis	Skin ulcer, Otitis media, Skin rash, Increased inflammatory response, Prostatitis, Weight loss, P...	ORPHA:900
Multiple Endocrine Neoplasia Type 4	Erythema, Thymoma, Hyperparathyroidism, Pituitary adenoma, Parathyroid carcinoma, Subcutaneous li...	ORPHA:276152
Fetal Hydantoin Syndrome	Low posterior hairline, Coarse hair, Cryptorchidism, Hypoplastic fingernail	ORPHA:1912
Pigmented Nodular Adrenocortical Disease, Primary, 2	Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, Decreased ci...	OMIM:610475
Congenital Bile Acid Synthesis Defect Type 4	Cholestatic liver disease, Giant cell hepatitis, Pigmentary retinopathy, Elevated circulating hep...	ORPHA:79095
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Generalized hirsutis...	ORPHA:1933
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Intrauterine growth retardation, Abnormality of the cervical spine, Finger joint contracture, Sho...	ORPHA:48431
Adult Polyglucosan Body Disease	Limitation of joint mobility, Skin ulcer	ORPHA:206583
Wieacker-Wolff Syndrome	High anterior hairline, Distal amyotrophy, Scoliosis, Kyphosis, Short neck, Short stature, Hyperl...	OMIM:314580
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Postprandial hyperglycemia, Elevated circulating hepatic transaminase concentration, Ketonuria, G...	ORPHA:2089
Colchicine Poisoning	Alopecia, Hypomagnesemia, Leukocytosis, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia...	ORPHA:31824
Wolcott-Rallison Syndrome	Hypoalbuminemia, Neonatal insulin-dependent diabetes mellitus, Chronic kidney disease, Elevated c...	ORPHA:1667
Rajab Interstitial Lung Disease With Brain Calcifications 1	Cholestasis, Slender build, Pancytopenia, Hepatic steatosis, Cirrhosis, Unconjugated hyperbilirub...	OMIM:613658
Fountain Syndrome	Erythema, Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Abnormal form of the v...	ORPHA:3219
Parathyroid Carcinoma	Hyperparathyroidism, Hypercalcemia, Parathyroid carcinoma	OMIM:608266
Sotos Syndrome	Abnormal vertebral morphology, Small nail, Cryptorchidism, Hip contracture, Ventricular septal de...	ORPHA:821
X-Linked Intellectual Disability, Cabezas Type	Camptodactyly of finger, Decreased testicular size, Obesity, Inguinal hernia, Joint hypermobility...	ORPHA:85293
Erythroderma, Lethal Congenital	Hypoalbuminemia, Congenital exfoliative erythroderma, Failure to thrive	OMIM:227090
Cohen Syndrome	Preauricular skin tag, Failure to thrive in infancy, Long eyelashes, Thick eyebrow, Intrauterine ...	ORPHA:193
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Fine hair, Supernumerary nipple, Cryptorchidism, Aplastic/hypoplastic toenail, Hypothyroidism, Hy...	ORPHA:1812
Multiple Sulfatase Deficiency	Coarse hair, Joint stiffness, Thick eyebrow, Abnormality of retinal pigmentation, Splenomegaly, H...	ORPHA:585
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Fine hair, Joint hypermobility, Glomerulonephritis, Growth delay, Synophrys	OMIM:619428
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Preauricular skin tag, Alopecia, Sparse eyebrow, Small nail, Bilateral cryptorchidism, Sacral dim...	ORPHA:544488
Lipodystrophy, Familial Partial, Type 7	Lower limb muscle weakness, Facial wrinkling, Dry skin, Reduced subcutaneous adipose tissue, Loss...	OMIM:606721
Dubowitz Syndrome	Dry skin, Postnatal growth retardation, Cryptorchidism, Hypoparathyroidism, Acute lymphoblastic l...	ORPHA:235
Albinism, Oculocutaneous, Type Ib	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:606952
Isolated Succinate-Coq Reductase Deficiency	Severe short stature, Pigmentary retinopathy, Distal amyotrophy, Skeletal muscle atrophy, Hypertr...	ORPHA:3208
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormal CD4:CD8 ratio, Chronic mucocutaneous candidiasis, Failure to thrive, Pancytopenia, Decre...	ORPHA:572
4Q21 Microdeletion Syndrome	Growth delay, Long eyelashes, Intrauterine growth retardation, Generalized hirsutism, Short neck,...	ORPHA:238750
Familial Peripheral Male-Limited Precocious Puberty	Abnormal hair morphology, Macroorchidism, Acne	ORPHA:3000
Hyperparathyroidism, Transient Neonatal	Hyperparathyroidism, Unilateral renal agenesis, Umbilical hernia, Splenic cyst, Elevated circulat...	OMIM:618188
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Lumbar hyperlordosis, Obesity, Short stature, Scoliosis, Kyphosis	OMIM:616756
Dyskeratosis Congenita, Digenic	Alopecia, Failure to thrive, Decreased testicular size, Intrauterine growth retardation, Nail dys...	OMIM:620040
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Shoulder girdle muscle atrophy, Muscular dystrophy, Skeletal muscle atrophy, Kyphosis, Shoulder g...	OMIM:606612
Mucopolysaccharidosis Type 3	Craniofacial hyperostosis, Aspiration pneumonia, Abnormal mitral valve morphology, Generalized hi...	ORPHA:581
Smith-Lemli-Opitz Syndrome	Cryptorchidism, Hepatic steatosis, Cirrhosis, Duplicated collecting system, Hepatomegaly, Hypospa...	OMIM:270400
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Abnormal heart morphology, T lymphocytopenia, Hypocalcemia	DECIPHER:16
Alpha-Mannosidosis	Synostosis of joints, Craniofacial hyperostosis, Kyphosis, Splenomegaly, Inguinal hernia, Short n...	ORPHA:61
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Chondrocalcinosis, Multiple lipomas, Pancreatitis, Hypercalcemia, Primary hyperp...	OMIM:145981
Hermansky-Pudlak Syndrome	Thickened skin, Abnormal dental enamel morphology, Long eyelashes, Melanocytic nevus, Weight loss...	ORPHA:79430
Borjeson-Forssman-Lehmann Syndrome	Cervical spinal canal stenosis, Obesity, Scheuermann-like vertebral changes, Cryptorchidism, Dela...	OMIM:301900
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous absce...	OMIM:243700
Alpha-1-Antitrypsin Deficiency	Hepatic failure, Reduced circulating alpha-1-antitrypsin concentration, Hepatitis, Cholestasis, C...	ORPHA:60
Bile Acid Synthesis Defect, Congenital, 4	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:214950
Metatropic Dysplasia	Severe short stature, Coarse metaphyseal trabecularization, Abnormal enchondral ossification, Hyp...	ORPHA:2635
Simple Cryoglobulinemia	Localized skin lesion, Nephritis, Viral hepatitis, Abnormal heart morphology, Acral ulceration, C...	ORPHA:91139
Autoimmune Hypoparathyroidism	Hyperphosphatemia, Chronic mucocutaneous candidiasis, Hypocalcemic tetany, Autoimmune hypoparathy...	ORPHA:36913
Fetal Akinesia Deformation Sequence 4	Skeletal muscle atrophy, Cryptorchidism, Short neck, Camptodactyly, Arthrogryposis multiplex cong...	OMIM:618393
Severe Generalized Junctional Epidermolysis Bullosa	Pneumonia, Alopecia, Skin erosion, Dilated cardiomyopathy, Failure to thrive, Pyoderma, Abnormal ...	ORPHA:79404
Alveolar Echinococcosis	Abnormal vertebral morphology, Biliary cirrhosis, Cutaneous abscess, Decreased liver function, Ab...	ORPHA:284
Bethlem Muscular Dystrophy	Ankle flexion contracture, Cigarette-paper scars, Interphalangeal joint contracture of finger, Ca...	ORPHA:610
Becker Nevus Syndrome	Shoulder girdle muscle atrophy, Supernumerary nipple, Spina bifida occulta, Hypermelanotic macule...	ORPHA:64755
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Increased circula...	OMIM:194380
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome	Alopecia, Hypopituitarism, Type II diabetes mellitus, Reduced circulating growth hormone concentr...	OMIM:620651
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Elevated gamma-glutamyltransferase level, Increased urinary glycerol, Cholestasis, Increased LDL ...	ORPHA:247598
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies	Atopic dermatitis, Obesity	OMIM:606772
Attenuated Chédiak-Higashi Syndrome	Skin ulcer, Generalized hypopigmentation, Ocular albinism	ORPHA:352723
Hip Dysplasia, Beukes Type	Kyphosis, Abnormal ossification involving the femoral head and neck, Osteoarthritis, Abnormal bon...	ORPHA:2114
Hyperparathyroidism-Jaw Tumor Syndrome	Chondrocalcinosis, Lipoma, Pancreatic adenocarcinoma, Abnormal parathyroid morphology, Hypophosph...	ORPHA:99880
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Atopic dermatitis, Bronchiectasis, Disseminated molluscum contagiosum, Colonic eosinop...	OMIM:617638
Zygomycosis	Cellulitis, Pustule, Acute infectious pneumonia, Neutropenia, Skin plaque, Endocarditis, Unusual ...	ORPHA:73263
Bone Marrow Failure Syndrome 4	Dry skin, Eczematoid dermatitis	OMIM:618116
Encephalocraniocutaneous Lipomatosis	Aortic valve stenosis, Craniofacial hyperostosis, Alopecia, Nevus flammeus, Xanthomatosis, Tricus...	ORPHA:2396
Sanjad-Sakati Syndrome	Patchy osteosclerosis, Hyperphosphatemia, Abnormal dental enamel morphology, Postnatal growth ret...	ORPHA:2323
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Fine hair, Postnatal growth retardation, Thick eyebrow, Short neck, Cutis laxa, Hyposegmentation ...	OMIM:614800
Intellectual Developmental Disorder, Autosomal Dominant 54	Eczematoid dermatitis, Dry skin, Thin nail, Anhidrosis, Sparse hair, Small for gestational age	OMIM:617799
Gm1-Gangliosidosis, Type Iii	Platyspondyly, Skeletal muscle atrophy, Kyphosis, Splenomegaly, Decreased beta-galactosidase acti...	OMIM:230650
Frontonasal Dysplasia 2	Sparse eyebrow, Nevus, Fine hair, Bilateral cryptorchidism, Alopecia totalis, Intrauterine growth...	OMIM:613451
Glucose-Galactose Malabsorption	Weight loss, Hypercalcemia, Failure to thrive, Hypernatremia	ORPHA:35710
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Hypoglycinemia, Hyposerinemia, Failure to thrive, Umbilical hernia, Intrauterine growth retardati...	ORPHA:79351
Cutaneous Small Vessel Vasculitis	Erythema, Recurrent skin infections, Skin rash, Subcutaneous nodule, Papule, Purpura	ORPHA:889
Ige Responsiveness, Atopic	Allergic rhinitis, Eczematoid dermatitis	OMIM:147050
Mycetoma	Cutaneous cyst, Osteomyelitis, Cobblestone-like hyperkeratosis, Subcutaneous nodule, Recurrent ba...	ORPHA:2583
Senior-Boichis Syndrome	Chronic kidney disease, Abnormal urinary electrolyte concentration, Cholestasis, Hepatosplenomega...	ORPHA:84081
Laryngeal Neuroendocrine Tumor	Adrenocorticotropic hormone excess, Weight loss, Chronic noninfectious lymphadenopathy, Elevated ...	ORPHA:100083
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Dysplastic testes, Partial development of the penile shaft, Hypothermia, Cryptorchidism, Testicul...	OMIM:608800
Hall-Riggs Syndrome	Platyspondyly, Failure to thrive, Intrauterine growth retardation, Enamel hypoplasia, Osteoporosi...	OMIM:234250
Pelger-Huet Anomaly	Recurrent otitis media, Eczematoid dermatitis, Failure to thrive, Umbilical hernia	OMIM:169400
Acrocephalopolydactylous Dysplasia	Hepatic fibrosis, Polysplenia, Omphalocele, Pancreatic fibrosis, Hepatomegaly, Enlarged kidney, C...	OMIM:200995
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Elevated circulating luteinizing hormone level, Dilatation of the renal pelvis, Adrenal hyperplas...	ORPHA:95699
Neuropathy, Hereditary Sensory And Autonomic, Type V	Osteomyelitis, Acral ulceration, Osteoarthritis, Anhidrosis, Septic arthritis	OMIM:608654
Hereditary Sensory And Autonomic Neuropathy Type 4	Chronic kidney disease, Unexplained fevers, Atypical scarring of skin, Recurrent fever, Fasciitis...	ORPHA:642
Granulomatosis With Polyangiitis	Keratitis, Skin ulcer, Episcleritis, Weight loss, Sinusitis, Conjunctivitis, Chronic otitis media...	OMIM:608710
Sialidosis Type 1	Hernia, Hyperkeratosis	ORPHA:812
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:235555
Tangier Disease	Hypocholesterolemia, Hepatosplenomegaly, Dry skin, Facial diplegia, Nail dystrophy, Left ventricu...	ORPHA:31150
Ck Syndrome	Slender build, Abnormal cortical bone morphology, Joint hypermobility, Hyperlordosis, Scoliosis, ...	OMIM:300831
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Woolly hair	OMIM:610193
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Keloids, Dry skin, Obesity, Decreased testicular size, Abnormality of retinal pigmentation, Crypt...	ORPHA:3085
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hyperkeratosis	ORPHA:79279
Gangliocytoma	Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Adrenocorticotropic hormone excess...	ORPHA:251937
Limb-Mammary Syndrome	Alopecia, Sparse eyebrow, Absent nipple, Breast aplasia, Dry skin, Psoriasiform dermatitis, Aplas...	ORPHA:69085
Multicentric Reticulohistiocytosis	Skin nodule, Cachexia, Histiocytosis, Arthritis	ORPHA:139436
Heterotaxy, Visceral, 1, X-Linked	Failure to thrive, Polysplenia, Abdominal situs inversus, Renal agenesis, Horseshoe kidney, Cyano...	OMIM:306955
Pfapa Syndrome	Splenomegaly, Infectious encephalitis, Weight loss, Lymphadenopathy, Arthritis, Hepatomegaly	ORPHA:42642
13Q12.3 Microdeletion Syndrome	Atopic dermatitis, Failure to thrive, Obesity, Congenital diaphragmatic hernia, Cryptorchidism, C...	ORPHA:412035
Renal Dysplasia	Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Heart Defects-Limb Shortening Syndrome	Disproportionate short stature, Abnormal form of the vertebral bodies, Abnormal tricuspid valve m...	ORPHA:1354
T-Cell Immunodeficiency With Thymic Aplasia	Pneumonia, Eczematoid dermatitis, Failure to thrive, Hypocalcemic tetany, Decreased proportion of...	ORPHA:83471
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Lymphopenia, Intrauterine growth retardation, Psoriasiform dermatitis, Leukocytosis, Autoimmune h...	OMIM:243150
Proteasome-Associated Autoinflammatory Syndrome 1	Erythema, Premature graying of hair, Microcytic anemia, Recurrent otitis media, Flexion contractu...	OMIM:256040
Bartter Syndrome, Type 1, Antenatal	Osteopenia, Hyperparathyroidism, Hyperchloriduria, Increased serum prostaglandin E2, Chondrocalci...	OMIM:601678
Isolated Biliary Atresia	Elevated gamma-glutamyltransferase level, Hypopituitarism, Cholestasis, Xanthelasma, Elevated cir...	ORPHA:30391
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Palmoplantar keratoderma, Supernumerary nipple, Sparse body hair, Anhidrosis, Nail dystrophy, Spa...	OMIM:106260
Phakomatosis Pigmentokeratotica	Melanocytic nevus, Hypophosphatemic rickets, Linear nevus sebaceous, Cryptorchidism, Nevus spilus...	ORPHA:2874
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc...	ORPHA:567983
Kaufman Oculocerebrofacial Syndrome	Hypocholesterolemia, Sparse eyebrow, Sparse hair, Failure to thrive	OMIM:244450
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Peritoneal effusion, Growth delay, Intestinal lymphangiectasia, Hypomagnesemia, ...	ORPHA:90362
Glycogen Storage Disease Ixc	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Increased he...	OMIM:613027
Waardenburg Syndrome Type 1	Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Thic...	ORPHA:894
Satoyoshi Syndrome	Alopecia universalis, Abnormal hair morphology, Abnormality of the ovary, Sparse or absent eyelas...	ORPHA:3130
Rat-Bite Fever	Septic arthritis, Lymphadenitis, Parotitis, Morbilliform rash, Skin rash, Back pain, Pustule, Ane...	ORPHA:31205
Follicular Lymphoma	Splenomegaly, Weight loss, Lymphadenopathy, Abnormal peritoneum morphology, Skin nodule, Mediasti...	ORPHA:545
Generalized Pseudohypoaldosteronism Type 1	Atopic dermatitis, Cholelithiasis, Recurrent tonsillitis, Failure to thrive in infancy, Osteomyel...	ORPHA:171876
Wiskott-Aldrich Syndrome 2	Eczematoid dermatitis	OMIM:614493
Distal Deletion 19P	Alopecia, Keloids, Umbilical hernia, Thick eyebrow, Ventricular septal defect, Joint hypermobilit...	ORPHA:96129
Aromatic L-Amino Acid Decarboxylase Deficiency	Temperature instability, Intermittent hypothermia, Reduced circulating aromatic L-amino acid deca...	OMIM:608643
Plague	Localized skin lesion, Inflammation of the large intestine, Lymphadenitis, Skin ulcer, Chapped li...	ORPHA:707
Congenital Arthrogryposis With Anterior Horn Cell Disease	Skeletal muscle atrophy, Facial diplegia, Cryptorchidism, Short neck, Scoliosis, Arthrogryposis m...	OMIM:611890
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Cholelithiasis, Shuffling gait, Failure to thrive, Decreased testicular size, Distal lower limb a...	OMIM:300534
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Osteopenia, Toenail dysplasia, Kyphosis, Eczematoid dermatitis, Postnatal growth retardation, Int...	OMIM:300966
Johanson-Blizzard Syndrome	Elevated gamma-glutamyltransferase level, Frontal upsweep of hair, Cryptorchidism, Ventricular se...	OMIM:243800
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Hypermagnesemia, Chondrocalcinosis, Osteomalacia, Pancreatitis, Lipoma, H...	ORPHA:405
Metatropic Dysplasia	Platyspondyly, Anisospondyly, Severe short stature, Hypoplasia of the odontoid process, Caudal ap...	OMIM:156530
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Thin bony cortex, Curly hair, Increased bone mineral density, Vertebral arch anomaly	ORPHA:85184
Noonan Syndrome 12	Decreased response to growth hormone stimulation test, Atopic dermatitis	OMIM:618624
Kenny-Caffey Syndrome, Type 1	Hypomagnesemia, Intrauterine growth retardation, Hypocalcemia, Decreased skull ossification, Prop...	OMIM:244460
Glutathionuria	Eczematoid dermatitis	OMIM:231950
Benign Recurrent Intrahepatic Cholestasis	Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio...	ORPHA:65682
Immunodeficiency 115 With Autoinflammation	Eczematoid dermatitis, Superficial dermal perivascular inflammatory infiltrate	OMIM:620632
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Fine hair, Long eyelashes, Thoracic kyphosis, Obesity, Short neck, Scoliosis, Synophrys	OMIM:620250
Primary Myelofibrosis	Increased circulating lactate dehydrogenase concentration, Extramedullary hematopoiesis, Hepatosp...	ORPHA:824
Mitochondrial Trifunctional Protein Deficiency	Pigmentary retinopathy, Lower limb muscle weakness, Cardiomyopathy, Cholestasis, Failure to thriv...	ORPHA:746
Genetic Recurrent Myoglobinuria	Hyperphosphatemia, Lower limb muscle weakness, Difficulty walking, Dark urine, Hyperkalemia, Abno...	ORPHA:99845
Mednik Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:171851
Cerebrofaciothoracic Dysplasia	Coarse hair, Thick eyebrow, Vertebral segmentation defect, Low posterior hairline, Hernia, Abnorm...	ORPHA:1394
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Intrauterine growth retardation, Inappropriate laughter, Fine hair, Joint hypermobility	ORPHA:363686
Dubowitz Syndrome	Sparse lateral eyebrow, Hypocholesterolemia, Cryptorchidism, Inguinal hernia, Hyperactivity, Hypo...	OMIM:223370
Apparent Mineralocorticoid Excess	Nephrocalcinosis, Polydipsia, Failure to thrive, Renal insufficiency, Abnormality of circulating ...	ORPHA:320
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Sparse pubic hair, Sparse eyebrow, Xerostomia, Fair hair, Blepharitis, Decreased response to grow...	OMIM:129900
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Adrenal insufficiency, High anterior hairline, Hypohidrosis, Hyperkeratosis	OMIM:615510
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Pallor, Leukocytosis, Splenomegaly, Weight loss, Lym...	ORPHA:3226
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated circulating hepatic transaminase concentration, Decreased muscle mass, Foot dorsiflexor ...	ORPHA:298
Chediak-Higashi Syndrome	Periodontitis, Hemophagocytosis, Abnormal dense granules, Neutropenia, Hepatomegaly, Jaundice, Gi...	OMIM:214500
Ramon Syndrome	Juvenile rheumatoid arthritis, Hyperkeratosis, Decreased body weight, Hypertrichosis	OMIM:266270
Inflammatory Pseudotumor Of The Liver	Elevated circulating aspartate aminotransferase concentration, Biliary tract abnormality, Neoplas...	ORPHA:90003
Woodhouse-Sakati Syndrome	Alopecia, Elevated circulating thyroid-stimulating hormone concentration, Fine hair, Decreased se...	OMIM:241080
Frank-Ter Haar Syndrome	Kyphosis, Camptodactyly of finger, Umbilical hernia, Joint stiffness, Inguinal hernia, Mitral val...	ORPHA:137834
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Osteopenia, Failure to thrive in infancy, Intrauterine growth retardation, Hip contracture, Short...	OMIM:616801
Holocarboxylase Synthetase Deficiency	Alopecia, Hyperammonemia, Skin rash, Reduced holocarboxylase synthetase activity in cultured fibr...	OMIM:253270
Acute Myelomonocytic Leukemia	Pallor, Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia	ORPHA:517
Autoimmune Lymphoproliferative Syndrome	Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport...	ORPHA:3261
Mitochondrial Trifunctional Protein Deficiency 1	Elevated circulating acylcarnitine concentration, Pigmentary retinopathy, Elevated circulating he...	OMIM:609015
Hallermann-Streiff Syndrome	Sparse eyebrow, Decreased number of sternal ossification centers, Recurrent pneumonia, Tracheomal...	OMIM:234100
Pigmented Nodular Adrenocortical Disease, Primary, 1	Decreased circulating dehydroepiandrosterone concentration, Increased circulating cortisol level,...	OMIM:610489
Steinert Myotonic Dystrophy	Oral-pharyngeal dysphagia, Hyperinsulinemia, Obsessive-compulsive trait, Pelvic girdle muscle wea...	ORPHA:273
Autosomal Recessive Robinow Syndrome	Synostosis of carpal bones, Cryptorchidism, Ventricular septal defect, Short neck, Atrial septal ...	ORPHA:1507
Autosomal Dominant Hypophosphatemic Rickets	Rickets, Osteomalacia, Hypocalcemia, Elevated circulating alkaline phosphatase concentration, Iro...	ORPHA:89937
Majeed Syndrome	Inflammatory abnormality of the skin, Failure to thrive, Microcytic anemia, Osteomyelitis, Hepato...	OMIM:609628
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Short stature, Obesity, Scoliosis, Kyphosis	ORPHA:276630
Mucopolysaccharidosis, Type Iva	Platyspondyly, Recurrent pneumonia, Hypoplasia of the odontoid process, Kyphosis, Abnormal heart ...	OMIM:253000
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Low back pain, Alopecia	OMIM:600142
Giant Axonal Neuropathy 1, Autosomal Recessive	Curly hair	OMIM:256850
Eosinophilic Granulomatosis With Polyangiitis	Hypopigmented skin patches, Hypertrophic cardiomyopathy, Abnormal pericardium morphology, Tubuloi...	ORPHA:183
Brucellosis	Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Glomerulonephri...	ORPHA:1304
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Patchy osteosclerosis, Hyperphosphatemia, Decreased response to growth hormone stimulation test, ...	OMIM:241410
Charcot-Marie-Tooth Disease Type 4B2	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Lower limb musc...	ORPHA:99956
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Highly arched eyebrow, Preauricular skin tag, Secundum atrial septal defect, Supernumerary nipple...	OMIM:619951
Insulin Autoimmune Syndrome	Weight loss, Arthralgia/arthritis	ORPHA:411593
Albinism, Oculocutaneous, Type Iv	Albinism, Hypopigmentation of hair, Blue irides	OMIM:606574
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	White hair, Fine hair, Lymphopenia, Inguinal hernia, Anemia, Reduced bone mineral density, Abnorm...	ORPHA:935
Müllerian Aplasia And Hyperandrogenism	High anterior hairline, Frontal balding, Abnormality of the ovary, Facial hirsutism, Obesity, Thi...	ORPHA:247768
Neutral Lipid Storage Myopathy	Rimmed vacuoles, Elevated circulating hepatic transaminase concentration, Increased circulating l...	ORPHA:98908
Ring Chromosome 10 Syndrome	Intrauterine growth retardation, Short neck, Cachexia, Hypocalcemia	ORPHA:1438
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat...	OMIM:605911
Say-Barber-Miller Syndrome	Highly arched eyebrow, Sparse eyebrow, Eczematoid dermatitis, Elbow flexion contracture, Abnormal...	ORPHA:3132
Schwartz-Jampel Syndrome	Myopathy, Hip contracture, Generalized hirsutism, Decreased body weight, Short neck, Cachexia, Sp...	ORPHA:800
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Hepatomegaly, Weight loss, Palmoplantar keratoderma	ORPHA:2198
Gaucher Disease, Perinatal Lethal	Arthrogryposis multiplex congenita, Ichthyosis, Petechiae, Decreased body weight, Hyperkeratosis,...	OMIM:608013
Morgagni-Stewart-Morel Syndrome	Obesity, Hirsutism, Hypothyroidism, Osteoarthritis, Acne	ORPHA:77296
Myopathy, Centronuclear, 2	Centrally nucleated skeletal muscle fibers, Kyphosis, Intrauterine growth retardation, Hyperlordo...	OMIM:255200
Immunodeficiency 31C	Osteopenia, Skeletal muscle atrophy, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Gr...	OMIM:614162
Aids Wasting Syndrome	Cachexia, Weight loss, Skeletal muscle atrophy	ORPHA:90081
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated circulating hepatic transaminase concentration, Failure to thrive, Recurrent fever, Sple...	OMIM:617591
O'Donnell-Luria-Rodan Syndrome	Prolonged neonatal jaundice, Kyphosis, Cryptorchidism	OMIM:618512
Woodhouse-Sakati Syndrome	Decreased serum estradiol, Alopecia, Insulin-resistant diabetes mellitus, Decreased response to g...	ORPHA:3464
Postinfectious Vasculitis	Pneumonia, Bacterial endocarditis, Palpable purpura, Inflammatory abnormality of the skin, Cardio...	ORPHA:48435
Systemic Mastocytosis With Associated Hematologic Neoplasm	Chronic lymphatic leukemia, Acute myeloid leukemia, Weight loss, Neutrophilia, Hepatomegaly, Myel...	ORPHA:98849
Gorlin-Chaudhry-Moss Syndrome	Generalized hirsutism, Coarse hair, Low anterior hairline	ORPHA:2095
Undifferentiated Pleomorphic Sarcoma	Weight loss, Abnormal peritoneum morphology	ORPHA:2023
Mulibrey Nanism	Hepatomegaly, Intrauterine growth retardation, Cachexia, Short stature	ORPHA:2576
Lysinuric Protein Intolerance	Increased LDL cholesterol concentration, Hepatosplenomegaly, Hyperglycinemia, Oral aversion, Cirr...	ORPHA:470
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Minicore myopathy, Increased endomysial connective tissue, Cryptorchidism, Short neck, Flexion co...	ORPHA:178148
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Atopic dermatitis, Obesity	ORPHA:397973
2P15P16.1 Microdeletion Syndrome	Sparse eyebrow, Growth delay, Failure to thrive, Fine hair, Camptodactyly of finger, Supernumerar...	ORPHA:261349
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Cachexia, Weight loss, Ragged-red muscle fibers	OMIM:613662
Acrofacial Dysostosis, Catania Type	Coarse hair, Preauricular pit, Intrauterine growth retardation, Inguinal hernia, Cryptorchidism, ...	ORPHA:1786
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Obesity...	ORPHA:209902
Mhc Class Ii Deficiency 1	Chronic mucocutaneous candidiasis, Failure to thrive, Biliary tract abnormality, Infectious encep...	OMIM:209920
Diamond-Blackfan Anemia 21	Coarse hair, Horizontal eyebrow, Nevus, Secundum atrial septal defect, Obesity, Erythroid hypopla...	OMIM:620072
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Camptodactyly, Atopic dermatitis, Arthrogryposis multiplex congenita	OMIM:614262
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Allergic rhinitis, Pneumonia, Recurrent pneumonia, Rheumatoid arthritis, Bronchiectasis, Atopic d...	ORPHA:183675
Opitz-Kaveggia Syndrome	Joint contracture of the hand, Fine hair, Facial wrinkling, Abnormal heart morphology, Skin tags,...	OMIM:305450
Autoinflammatory-Pancytopenia Syndrome	Failure to thrive, Chilblains, Intestinal inflammation, Lipodystrophy, Membranoproliferative glom...	OMIM:619858
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Atopic dermatitis, Eczematoid...	ORPHA:436159
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Disinhibition, Polyphagia, Repetitive compulsive behavior, Agitation, Hypersexuality	OMIM:607485
Singleton-Merten Syndrome 2	Psoriasiform lesion, Hyperkeratosis	OMIM:616298
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Portal fibrosis, Failure to thrive, Cholestasis, Microvesicular hepatic steatos...	OMIM:619377
Ritscher-Schinzel Syndrome 4	Cryptorchidism, Joint hypermobility, Limited knee extension, Curly hair, Short stature, Scoliosis	OMIM:619435
Spondylocostal Dysostosis 3, Autosomal Recessive	Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal joint of the 2nd ...	OMIM:609813
Leukocyte Adhesion Deficiency, Type I	Periodontitis, Chronic mucocutaneous candidiasis, Skin ulcer, Osteomyelitis, Leukocytosis, Elevat...	OMIM:116920
Proteus Syndrome	Decreased muscle mass, Myofibrillar myopathy, Generalized hirsutism, Cachexia, Abnormality of the...	ORPHA:744
Mgat2-Cdg	Osteopenia, Failure to thrive, Abnormal heart morphology, Long eyelashes, Ventricular septal defe...	ORPHA:79329
Secondary Intestinal Lymphangiectasia	Hypoalbuminemia, Fever, Secondary hyperaldosteronism, Reduced circulating transferrin concentrati...	ORPHA:90363
Proteasome-Associated Autoinflammatory Syndrome 2	Failure to thrive, Neutrophilic infiltration of the skin, Skin rash, Lipodystrophy, Subcutaneous ...	OMIM:618048
Hypocalciuric Hypercalcemia, Familial, Type I	Hyperparathyroidism, Hypermagnesemia, Pancreatitis, Parathyroid adenoma, Hypercalcemia	OMIM:145980
Gracile Bone Dysplasia	Failure to thrive, Hypocalcemia, Decreased skull ossification, Short stature, Asplenia, Hypoplast...	OMIM:602361
Cerebellar-Facial-Dental Syndrome	Severe short stature, Sparse eyebrow, Infancy onset short-trunk short stature, Foot joint contrac...	ORPHA:444072
Parkes Weber Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Skin ulcer, Lower limb muscle weak...	ORPHA:90307
Craniofrontonasal Syndrome	Coronal craniosynostosis, Umbilical hernia, Breast hypoplasia, Ridged nail, Congenital diaphragma...	OMIM:304110
Immunodeficiency 25	Recurrent pneumonia, Autoimmune hemolytic anemia, Eosinophilia, Erythroderma, T lymphocytopenia	OMIM:610163
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Decreased testicular size, Intrauterine growth retardation, Leukocytosis, Hepatic steat...	OMIM:619321
Pycnodysostosis	Hepatosplenomegaly, Abnormality of the nail, Coronal craniosynostosis, Disproportionate short-lim...	ORPHA:763
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal...	OMIM:618138
Hutchinson-Gilford Progeria Syndrome	Aortic valve stenosis, Ventricular hypertrophy, Aortic valve calcification, Limitation of joint m...	ORPHA:740
Bloom Syndrome	Sparse eyelashes, Abnormal proportion of CD8-positive T cells, Acute myeloid leukemia, Acute lymp...	ORPHA:125
Hermansky-Pudlak Syndrome 1	Inflammation of the large intestine, Hypopigmentation of the skin, Cardiomyopathy, Ocular albinis...	OMIM:203300
Autosomal Recessive Spastic Paraplegia Type 53	Failure to thrive, Kyphosis, Upper limb hypertonia, Joint hypermobility	ORPHA:319199
Linear Nevus Sebaceus Syndrome	Alopecia, Irregular hyperpigmentation, Melanocytic nevus, Vertebral segmentation defect, Adenoma ...	ORPHA:2612
Elejalde Neuroectodermal Melanolysosomal Syndrome	Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accum...	OMIM:256710
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency	Eczematoid dermatitis, Bilateral cryptorchidism, Decreased response to growth hormone stimulation...	OMIM:618336
Biotinidase Deficiency	Alopecia, Eczematoid dermatitis, Limb muscle weakness, Skin rash, Hyperammonemia, Decreased circu...	ORPHA:79241
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Aminoaciduria, Nephrocalcinosis, Elevated circulating hepatic transaminase concentr...	OMIM:616026
Bloom Syndrome	Hypopigmentation of the skin, Growth delay, Small for gestational age, Hypertrichosis, Postnatal ...	OMIM:210900
Bartsocas-Papas Syndrome	Synostosis of joints, Alopecia totalis, Sparse or absent eyelashes, Hypoplastic toenails, Aplasia...	ORPHA:1234
Immunodeficiency 56	Hepatic failure, Recurrent pneumonia, Failure to thrive, Recurrent otitis media, Recurrent sinusi...	OMIM:615207
Occipital Horn Syndrome	Platyspondyly, Coarse hair, Limited elbow extension, Redundant skin, Joint hypermobility, Hiatus ...	OMIM:304150
Ablepharon Macrostomia Syndrome	Fine hair, Camptodactyly of finger, Umbilical hernia, Breast hypoplasia, Dry skin, Redundant skin...	ORPHA:920
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Hepatomegaly, Generalized aminoaciduria, Hypotriglyceridemia, Inability to walk, Decreased LDL ch...	ORPHA:404454
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Thickened skin, Thick eyebrow, Hypoplastic sweat glands, Orthokeratotic hyperkeratosis, Epidermal...	ORPHA:73223
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Abnormal form of the vertebral bodies, Abnormal dental enamel morphology, Congenital muscular tor...	ORPHA:2916
Cockayne Syndrome	Dry hair, Postnatal growth retardation, Reduced subcutaneous adipose tissue, Cryptorchidism, Cach...	ORPHA:191
Spondyloepiphyseal Dysplasia, Nishimura Type	Delayed epiphyseal ossification, Hyperphosphatemia, Hypocalcemia, Disproportionate short-limb sho...	OMIM:618618
Caroli Disease	Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Cholelithiasis, Hepatic fibro...	ORPHA:53035
Diastrophic Dysplasia	Neonatal short-limb short stature, Hypoplastic cervical vertebrae, Abnormal form of the vertebral...	ORPHA:628
Galloway-Mowat Syndrome 9	Coarse hair	OMIM:619603
Wiedemann-Rautenstrauch Syndrome	Small nail, Dry skin, Reduced subcutaneous adipose tissue, Cryptorchidism, Sparse eyelashes, Abse...	OMIM:264090
Chromosome 22Q13 Duplication Syndrome	Polyphagia, Attention deficit hyperactivity disorder, Impulsivity	OMIM:615538
Propionic Acidemia	Pancreatitis, Eczematoid dermatitis, Failure to thrive	OMIM:606054
Emanuel Syndrome	Aortic valve stenosis, Preauricular skin tag, Failure to thrive, Recurrent otitis media, Preauric...	OMIM:609029
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Precocious puberty, Decreased circulating iron concentration, High anterior hairline, Broad-based...	ORPHA:438213
Myasthenia Gravis	Rheumatoid arthritis, Hepatitis, Myositis, Hashimoto thyroiditis, Abnormal thymus morphology, Pur...	ORPHA:589
Chédiak-Higashi Syndrome	Periodontitis, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Jaundice, Hypopro...	ORPHA:167
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Eczematoid dermatitis, Thyroiditis	OMIM:618985
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Thick eyebrow, Frontal upsweep of hair, Hirsutism, Low anterior hairline, Ventricular septal defe...	OMIM:617061
Pheochromocytoma	Hypercalcemia, Cafe-au-lait spot, Hyperhidrosis, Pheochromocytoma	OMIM:171300
Bruck Syndrome 1	Platyspondyly, Ankle flexion contracture, Vertebral wedging, Elbow flexion contracture, Increased...	OMIM:259450
Oculocutaneous Albinism Type 3	Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Blue n...	ORPHA:79433
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia, Nonprogressive muscular atrophy, Joint stiffness, Distal amyotrophy	ORPHA:1216
Cockayne Syndrome Type 2	Intrauterine growth retardation, Cryptorchidism, Scarring, Limb hypertonia, Enamel hypoplasia, He...	ORPHA:90322
Nodular Non-Suppurative Panniculitis	Erythema, Splenomegaly, Aplasia/Hypoplasia of the skin, Hepatomegaly, Weight loss, Inflammatory a...	ORPHA:33577
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Distal amyotrophy, Hypotriglyceridemia, Foot osteomyelitis, Decreased circulating apolipoprotein ...	OMIM:256840
Waardenburg Syndrome Type 2	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Abno...	ORPHA:895
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Striae distensae, Decreased testicular size, Distal lower limb amyotrophy, Cryptorchidism, Joint ...	OMIM:300354
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:619165
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Hypothyroidism, Dry hair, Low anterior hairline	OMIM:618569
Intellectual Developmental Disorder, Autosomal Dominant 57	Failure to thrive, Hypertrichosis, Otitis media, Joint hypermobility, Contracture of the proximal...	OMIM:618050
Isaacs Syndrome	Weight loss, Calf muscle hypertrophy, Hyperhidrosis	ORPHA:84142
Fontaine Progeroid Syndrome	Small nail, Reduced subcutaneous adipose tissue, Cryptorchidism, Low posterior hairline, Bicuspid...	OMIM:612289
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Joint contracture of the hand, Dry skin, Elevated circulating alkaline phosphatase concentration,...	OMIM:280000
Bartsocas-Papas Syndrome 1	Alopecia, Small nail, Bilateral cryptorchidism, Alopecia totalis, Dry skin, Skin tags, Intrauteri...	OMIM:263650
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Eczematoid dermatitis, Porokeratosis, Abnormal dental enamel morphology, Absent eyelashes, Thin f...	ORPHA:85199
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Sparse pubic hair, Sparse eyebrow, Xerostomia, Fair hair, Blepharitis, Decreased response to grow...	OMIM:604292
Immunodeficiency 23	Allergic rhinitis, Erythema, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Failure to...	OMIM:615816
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Orofaciodigital Syndrome I	Hepatic fibrosis, Alopecia, Dry hair, Abnormal heart morphology, Pancreatic cysts, Milia, Hepatic...	OMIM:311200
Carney Complex, Type 1	Pituitary adenoma, Nevus, Multiple lentigines, Pheochromocytoma, Thyroid follicular hyperplasia, ...	OMIM:160980
Griscelli Syndrome Type 3	Partial albinism, Hypopigmentation of hair, Iris hypopigmentation	ORPHA:79478
Lymphoproliferative Syndrome, X-Linked, 1	Hypoalbuminemia, Abnormal T cell count, Hepatic failure, Aplastic anemia, Hemophagocytosis, Pancy...	OMIM:308240
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Inflammation of the large in...	ORPHA:562639
Brittle Cornea Syndrome	Corneal scarring, Increased susceptibility to fractures, Abnormality of hair pigmentation, Mitral...	ORPHA:90354
Cerebellofaciodental Syndrome	Preauricular skin tag, Sparse eyebrow, Fine hair, Cryptorchidism, Mitral valve prolapse, Ventricu...	OMIM:616202
Congenital Disorder Of Glycosylation, Type Ig	Rhizomelia, Recurrent pneumonia, Failure to thrive, Butterfly vertebrae, Hypocalcemia, Patent for...	OMIM:607143
16Q24.3 Microdeletion Syndrome	Highly arched eyebrow, Preauricular skin tag, Dilated cardiomyopathy, Increased mean corpuscular ...	ORPHA:261250
Selective Igm Deficiency	Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Rheumatoid arthritis, Lymphadenitis, C...	ORPHA:331235
Marinesco-Sjogren Syndrome	Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Failure to ...	OMIM:248800
Piebaldism	Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes,...	ORPHA:2884
Arthrogryposis, Distal, Type 5	Firm muscles, Decreased muscle mass, Abnormality of retinal pigmentation, Limited wrist extension...	OMIM:108145
Xq12-Q13.3 Duplication Syndrome	Eczematoid dermatitis, Cryptorchidism, Numerous nevi	ORPHA:314389
Alg1-Cdg	Hypoalbuminemia, Limitation of joint mobility, Decreased liver function, Cardiomyopathy, Abnormal...	ORPHA:79327
Stevens-Johnson Syndrome	Erythema, Weight loss, Pancreatitis, Macule, Conjunctivitis, Acantholysis	ORPHA:36426
Myofibrillar Myopathy 10	Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Elevate...	OMIM:619040
Oculocutaneous Albinism Type 4	Iris hypopigmentation, Hypopigmentation of the skin, Nevus, White hair, Ocular albinism, Abnormal...	ORPHA:79435
Chronic Hiccup	Weight loss, Abnormality of the diaphragm	ORPHA:396
Costello Syndrome	Mitral valve prolapse, Ventricular septal defect, Limited elbow movement, Short neck, Atrial sept...	OMIM:218040
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Hydronephrosis, Urethral atresia, Enlarged kidney	OMIM:314390
Polymyositis	Dilated cardiomyopathy, Chondrocalcinosis, Hypertrophic cardiomyopathy, Abnormal mitral valve mor...	ORPHA:732
Trisomy 13	Preauricular skin tag, Preauricular pit, Intrauterine growth retardation, Cryptorchidism, Ventric...	ORPHA:3378
Systemic Lupus Erythematosus	Discoid lupus rash, Alopecia, Leukopenia, Malar rash, Weight loss, Lupus nephritis, Lymphadenopat...	ORPHA:536
Immunodeficiency 55	Ichthyosis, Dry skin, Recurrent skin infections, Eczematoid dermatitis	OMIM:617827
Denys-Drash Syndrome	Nephropathy, Focal segmental glomerulosclerosis, Ovarian gonadoblastoma, Stage 5 chronic kidney d...	OMIM:194080
Spondylometaphyseal Dysplasia, Kozlowski Type	Delayed epiphyseal ossification, Platyspondyly, Severe short stature, Hypoplasia of the odontoid ...	ORPHA:93314
Basel-Vanagaite-Smirin-Yosef Syndrome	Recurrent pneumonia, Inguinal hernia, Ventricular septal defect, Atrial septal defect, Sparse hai...	OMIM:616449
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp...	OMIM:203200
Masa Syndrome	Short stature, Kyphosis, Hyperlordosis	OMIM:303350
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Neurofibromatosis Type 1	Hypopigmented skin patches, Cryptorchidism, Multiple lipomas, Leukemia, Subcutaneous nodule, Oste...	ORPHA:636
Desbuquois Dysplasia 1	Platyspondyly, Severe short stature, Disproportionate short-limb short stature, Growth delay, Int...	OMIM:251450
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hepatic fibrosis, Fine hair, Nail dysplasia, Aplasia/Hypoplasia of the eyebrow, Short stature, Sp...	OMIM:614091
Loeffler Endocarditis	Aortic valve stenosis, Restrictive cardiomyopathy, Endocardial fibrosis, Abnormal heart valve mor...	ORPHA:75566
Intestinal Dysmotility Syndrome	Weight loss, Failure to thrive	OMIM:620045
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Scalp-Ear-Nipple Syndrome	Thickened skin, Sparse pubic hair, Fine hair, Breast aplasia, Dry skin, Pyelonephritis, Nail dysp...	OMIM:181270
Osteogenesis Imperfecta, Type Ix	Platyspondyly, Dentinogenesis imperfecta, Kyphosis, Disproportionate short-limb short stature, Bo...	OMIM:259440
Maternal Uniparental Disomy Of Chromosome 6	Congenital adrenal hyperplasia, Hydrocele testis, Eczematoid dermatitis, Inguinal hernia	ORPHA:96181
Congenital Heart Defects And Skeletal Malformations Syndrome	Failure to thrive, Intrauterine growth retardation, Congenital diaphragmatic hernia, Cryptorchidi...	OMIM:617602
Urban-Rogers-Meyer Syndrome	Kyphosis, Camptodactyly of finger, Obesity, Cryptorchidism, Short neck, Short stature, Osteoporos...	ORPHA:3409
Pearson Marrow-Pancreas Syndrome	3-Methylglutaric aciduria, Erythema, Type I diabetes mellitus, Hepatic failure, Elevated circulat...	OMIM:557000
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Self-injurious behavior, Broad-based gait, Fixated interests, Umbilical hernia, Few cafe-au-lait ...	OMIM:620330
X-Linked Charcot-Marie-Tooth Disease Type 1	Distal lower limb amyotrophy, Distal upper limb amyotrophy, Scoliosis, Kyphosis	ORPHA:101075
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Delayed epiphyseal ossification, Dry skin, Hyperbilirubinemia, Cryptorchidism, Hip contracture, S...	OMIM:210710
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Abnormal T cell count, Recurrent otitis media, Pyoderma, Decreased response to growth ...	OMIM:307200
Thanatophoric Dysplasia	Platyspondyly, Disproportionate short-limb short stature, Joint stiffness, Intrauterine growth re...	ORPHA:2655
Genitopatellar Syndrome	Fine hair, Cryptorchidism, Hip contracture, Knee flexion contracture, Radioulnar synostosis, Atri...	ORPHA:85201
Wolf-Hirschhorn Syndrome	Abnormal vertebral morphology, Congenital diaphragmatic hernia, Cryptorchidism, Low posterior hai...	ORPHA:280
Chromosome 18Q Deletion Syndrome	Atopic dermatitis, Umbilical hernia, Decreased response to growth hormone stimulation test, Failu...	OMIM:601808
Seckel Syndrome	Abnormal dental enamel morphology, Intrauterine growth retardation, Joint hypermobility, Cachexia...	ORPHA:808
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Umbilical hernia, Inguinal hern...	ORPHA:2789
Endocrine-Cerebroosteodysplasia	Microphallus, Hyperechogenic kidneys, Cryptorchidism, Adrenal hypoplasia, Hypospadias, Enlarged k...	OMIM:612651
Typical Nemaline Myopathy	Increased variability in muscle fiber diameter, Nemaline bodies, Scoliosis, Facial diplegia, Foot...	ORPHA:171436
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Delayed epiphyseal ossification, Platyspondyly, Thoracolumbar kyphosis, Small for gestational age...	ORPHA:93360
Double Outlet Right Ventricle	Hypoplastic left heart, Aplasia/Hypoplasia of the thymus, Failure to thrive, Tetralogy of Fallot,...	ORPHA:3426
Mucopolysaccharidosis Type 6	Kyphosis, Failure to thrive, Abnormal heart valve morphology, Joint stiffness, Splenomegaly, Hern...	ORPHA:583
Hereditary Amyloidosis With Primary Renal Involvement	Decreased liver function, Abnormal lymph node morphology, Elevated circulating creatinine concent...	ORPHA:85450
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Septic arthritis, Recurrent pneumonia, Eczematoid dermatitis	OMIM:617780
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Iris hypopigmentation, Broad-based gait, Hypopigmentation of the skin, Heat intolerance, Gait imb...	ORPHA:98795
Progressive Nodular Histiocytosis	Cachexia, Subcutaneous nodule, Papule	ORPHA:158022
Whipple Disease	Uveitis, Generalized hyperpigmentation, Splenomegaly, Infectious encephalitis, Myositis, Hepatome...	ORPHA:3452
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Obesity, Thick eyebrow, Thoracolumbar scoliosis, Hyperlordosis, Short stature, Hepatomegaly, Scol...	OMIM:618443
Distal Deletion 12Q	Congenital hypertrophy of left ventricle, Annular pancreas, Small nail, Fine hair, Pituitary aden...	ORPHA:96149
Glycogen Storage Disease Of Heart, Lethal Congenital	Cyanosis, Myopathy, Cardiomegaly, Macroglossia, Neonatal hypoglycemia, Enlarged kidney	OMIM:261740
Renal Cysts And Diabetes Syndrome	Decreased numbers of nephrons, Pancreatic atrophy, Abnormality of the kidney, Hypospadias, Elevat...	OMIM:137920
Congenital Isolated Acth Deficiency	Prolonged neonatal jaundice, Hyponatremia, Hepatitis	ORPHA:199296
Spinal Cord Injury	Vertebral compression fracture, Hypercalcemia	ORPHA:90058
Anemia, Congenital Dyserythropoietic, Type Iv	Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Anemia of inadequate product...	OMIM:613673
Pseudomyxoma Peritonei	Inflammation of the large intestine, Hernia, Weight loss, Lymphadenopathy, Abnormal peritoneum mo...	ORPHA:26790
Pontocerebellar Hypoplasia, Type 17	Secundum atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Low an...	OMIM:619909
Micro Syndrome	Joint stiffness, Intrauterine growth retardation, Abnormality of retinal pigmentation, Cryptorchi...	ORPHA:2510
Hepatitis, Fulminant Viral, Susceptibility To	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hashimoto thyroiditis, ...	OMIM:618549
Silver-Russell Syndrome	Decreased muscle mass, Failure to thrive in infancy, Postnatal growth retardation, Intrauterine g...	ORPHA:813
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Recurrent otitis media, Reduced subcutaneous adipose tissue, Excessive wrinkled skin, Short neck,...	OMIM:619950
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Atopic dermatitis, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Cutaneous abscess, Rec...	OMIM:619752
Chromosome 1P36 Deletion Syndrome, Distal	Hypospadias, Horizontal eyebrow, Camptodactyly of finger, Congenital hypothyroidism, Abnormality ...	OMIM:607872
Revesz Syndrome	Bone marrow hypocellularity, Ridged fingernail, Aplastic anemia, Fine hair, Intrauterine growth r...	OMIM:268130
Autosomal Dominant Robinow Syndrome	Severe short stature, Onychogryposis of fingernail, Alopecia, Ridged fingernail, Naevus flammeus ...	ORPHA:3107
Mucopolysaccharidosis, Type Ivb	Aortic valve stenosis, Platyspondyly, Hypoplasia of the odontoid process, Joint stiffness, Grayis...	OMIM:253010
Oculodentodigital Dysplasia	Uveitis, Dry hair, Fine hair, Joint contracture of the 5th finger, Enamel hypoplasia, Atrial sept...	OMIM:164200
Simpson-Golabi-Behmel Syndrome, Type 1	Supernumerary nipple, Congenital diaphragmatic hernia, Cryptorchidism, Hepatoblastoma, Hepatomega...	OMIM:312870
Lysosomal Acid Lipase Deficiency	Hypersplenism, Xanthelasma, Hepatosplenomegaly, Elevated circulating alkaline phosphatase concent...	ORPHA:275761
3C Syndrome	Aortic valve stenosis, Preauricular skin tag, Hypoplastic left heart, Hypoplastic fingernail, Tet...	ORPHA:7
Allergic Bronchopulmonary Aspergillosis	Abnormal fingernail morphology, Abnormal eosinophil morphology, Weight loss, Bronchiectasis	ORPHA:1164
Noonan Syndrome 1	Juvenile myelomonocytic leukemia, Hypertrophic cardiomyopathy, Dry skin, Postnatal growth retarda...	OMIM:163950
Cockayne Syndrome Type 3	Dry hair, Skeletal muscle atrophy, Elevated circulating hepatic transaminase concentration, Cardi...	ORPHA:90324
Immunodeficiency 47	Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans...	OMIM:300972
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Atopic dermatitis, Rhinitis, Otitis media, Sinusitis	ORPHA:70593
Neonatal Inflammatory Skin And Bowel Disease	Erythema, Horizontal eyebrow, Chapped lip, Chronic monilial nail infection, Psoriasiform dermatit...	ORPHA:294023
Degcags Syndrome	Chronic kidney disease, Oral-pharyngeal dysphagia, Premature graying of hair, Cholestasis, Hepato...	OMIM:619488
Autoinflammation, Immune Dysregulation, And Eosinophilia	Atopic dermatitis, Failure to thrive, Colonic eosinophilia, Hypothyroidism, Membranous nephropathy	OMIM:618999
Biliary Atresia, Extrahepatic	Elevated circulating hepatic transaminase concentration, Portal fibrosis, Increased total bilirub...	OMIM:210500
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Obesity, Foot dorsiflexor weakness, Short stature, Scoliosis, Kyphosis	OMIM:618124
Focal Myositis	Myositis, Weight loss, Limitation of joint mobility, Elevated circulating creatine kinase concent...	ORPHA:48918
3M Syndrome	Abnormal dental enamel morphology, Intrauterine growth retardation, Thick eyebrow, Increased vert...	ORPHA:2616
Deafness, Neural, With Atypical Atopic Dermatitis	Late onset atopic dermatitis	OMIM:221700
Familial Benign Copper Deficiency	Acne, Early balding	ORPHA:1551
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hyperkeratosis	ORPHA:163966
Agammaglobulinemia, X-Linked	Cor pulmonale, Recurrent pneumonia, Septic arthritis, Bronchiectasis, Conjunctivitis, Recurrent o...	OMIM:300755
Ebola Hemorrhagic Fever	Hepatitis, Lymphopenia, Leukopenia, Thrombocytopenia, Maculopapular exanthema, Acute pancreatitis	ORPHA:319218
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Muscular dystrophy, Abnormality of the ovary, Decreased testicular size, Joint hypermobility, Kyp...	ORPHA:1875
African Trypanosomiasis	Urinary incontinence, Alopecia, Difficulty walking, Hepatosplenomegaly, Akinesia, Renal insuffici...	ORPHA:3385
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hip osteoarthritis, Joint stiffness, Hepatosplenomegaly, Mild postnatal growth retardation, Knee ...	ORPHA:85408
Pleural Mesothelioma	Hepatomegaly, Weight loss, Lymphadenopathy	ORPHA:50251
Multiple Pterygium-Malignant Hyperthermia Syndrome	Severe short stature, Onychogryposis of fingernail, Ridged fingernail, Naevus flammeus of the eye...	ORPHA:2215
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Eczematoid dermatitis	OMIM:616871
Pseudohypoparathyroidism Type 2	Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Pseudohypoparathyroidism, Hypocalcemic seiz...	ORPHA:94090
Waardenburg-Shah Syndrome	Premature graying of hair, Abnormal eyebrow morphology, White forelock, Abnormality of retinal pi...	ORPHA:897
Oncogenic Osteomalacia	Abnormal vertebral morphology, Pathologic fracture, Increased susceptibility to fractures, Fibrou...	ORPHA:352540
Peripheral Primitive Neuroectodermal Tumor	Increased circulating lactate dehydrogenase concentration, Lower limb muscle weakness, Elevated c...	ORPHA:370348
B4Galt1-Cdg	Inflammatory abnormality of the skin, Hypothyroidism, Small for gestational age, Redundant neck skin	ORPHA:79332
Estrogen Resistance	Breast aplasia, Acanthosis nigricans, Acne, Polycystic ovaries	OMIM:615363
Estrogen Resistance Syndrome	Breast hypoplasia, Enlarged polycystic ovaries, Acanthosis nigricans, Increased circulating gonad...	ORPHA:785
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Dry skin, Subcutaneous nodule, Panniculitis, Eczematoid dermatitis	ORPHA:508542
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Weight loss, Failure to thrive	OMIM:612075
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Atopic dermatitis, Eosinophilic infiltration of the esophagus, Recurrent skin infections	OMIM:620532
Yao Syndrome	Ventricular hypertrophy, Uveitis, Inflammatory abnormality of the skin, Skin rash, Keratoconjunct...	OMIM:617321
Myhre Syndrome	Aortic valve stenosis, Limitation of joint mobility, Enlarged vertebral pedicles, Cryptorchidism,...	OMIM:139210
Rift Valley Fever	Elevated circulating hepatic transaminase concentration, Hepatitis, Skin rash, Infectious encepha...	ORPHA:319251
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Follicular hyperkeratosis	OMIM:277350
Ring Chromosome 12 Syndrome	Dystrophic toenail, Breast hypoplasia, Cryptorchidism, Hirsutism, Hypothyroidism, Acne, Small for...	ORPHA:1439
Cranio-Osteoarthropathy	Osteoarthritis, Eczematoid dermatitis, Arthritis	ORPHA:1525
Cowden Syndrome	Palmoplantar keratoderma, Hypopigmented skin patches, Failure to thrive, Generalized hyperkeratos...	ORPHA:201
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Short stature, Joint stiffness, Cachexia	ORPHA:1144
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Multicystic kidney dysplasia, Bifid ureter, Large for gestational age, Inguinal hernia, Nephrobla...	ORPHA:500095
Wrinkly Skin Syndrome	Sparse hair, Osteopenia, Atrial septal dilatation, Failure to thrive, Decreased muscle mass, Umbi...	ORPHA:2834
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Abnormal B cell morphology, Decreased response to growth hormone stimulation test, Contracture of...	OMIM:618223
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent pneumonia, Eczematoid dermatitis, Failure to thrive, Pyoderma, Aplasia of the thymus, B...	OMIM:242700
Chand Syndrome	Nail dysplasia, Hypohidrosis, Curly hair	ORPHA:1401
Pseudohypoparathyroidism, Type Ia	Hyperphosphatemia, Hypocalcemic tetany, Obesity, Pseudohypoparathyroidism, Short neck, Subcutaneo...	OMIM:103580
Tsh-Secreting Pituitary Adenoma	Osteopenia, Enlarged pituitary gland, Secondary growth hormone deficiency, Increased circulating ...	ORPHA:91347
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Elbow flexion contracture, Intrauterine growth retardation, Knee flexion contracture, Hip contrac...	ORPHA:371364
Distal 16P11.2 Microdeletion Syndrome	Obesity, Kyphosis, Hyperuricemia, Low anterior hairline	ORPHA:261222
Mitochondrial Dna Depletion Syndrome 11	Spinal rigidity, Dilated cardiomyopathy, Neuropathic spinal arthropathy, Ragged-red muscle fibers...	OMIM:615084
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Eczematoid dermatitis, Psoriasiform dermatitis, Crohn's disease, Arthritis, B...	OMIM:616100
Renal Tubular Acidosis, Distal, 1	Osteomalacia, Pathologic fracture, Elevated circulating creatinine concentration, Hypocalcemia, H...	OMIM:179800
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Elevated circulating hepatic transaminase concentration, Kyphosis, Joint stiffness, Abnormality o...	ORPHA:394
Meacham Syndrome	Accessory spleen, Aplasia of the right hemidiaphragm, Horseshoe kidney, Enlarged kidney, Aplasia ...	OMIM:608978
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Muscular dystrophy, Dilated cardiomyopathy, Shoulder girdle muscle weakness, Elevated circulating...	OMIM:607155
Bruck Syndrome	Platyspondyly, Kyphosis, Joint stiffness, Short stature, Osteoporosis, Scoliosis, Arthrogryposis ...	ORPHA:2771
Zttk Syndrome	Sparse eyebrow, Growth delay, Failure to thrive, Intrauterine growth retardation, Absent gallblad...	OMIM:617140
Nijmegen Breakage Syndrome	Acute leukemia, Recurrent pneumonia, Skeletal muscle atrophy, Abnormal hair morphology, Autoimmun...	ORPHA:647
Behcet Syndrome	Erythema, Patchy alopecia, Iridocyclitis, Erythema nodosum, Arthritis, Epididymitis, Iritis	OMIM:109650
Adrenomyeloneuropathy	Frontal balding, Leg muscle stiffness, Lip hyperpigmentation, Fine hair, Distal lower limb muscle...	ORPHA:139399
Wrinkly Skin Syndrome	Atrial septal dilatation, Osteopenia, Hypoplasia of the musculature, Short nail, Failure to thriv...	OMIM:278250
Melnick-Needles Syndrome	Coarse hair, Failure to thrive, Recurrent otitis media, Limited elbow extension, Mitral valve pro...	OMIM:309350
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Sparse eyebrow, Elevated circulating hepatic transaminase concentration, Generalized ...	OMIM:619127
Acth-Independent Macronodular Adrenal Hyperplasia	Osteopenia, Skeletal muscle atrophy, Striae distensae, Macronodular adrenal hyperplasia, Adrenal ...	OMIM:219080
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Short stature, Patchy alopecia, Sparse hair	OMIM:617763
Restrictive Dermopathy	Sparse eyebrow, Short nail, Skin erosion, Generalized hyperkeratosis, Camptodactyly of finger, De...	ORPHA:1662
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Dilated cardiomyopathy, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia	OMIM:620152
Thanatophoric Dysplasia Type 2	Platyspondyly, Limitation of joint mobility, Redundant skin, Joint hypermobility, Atrial septal d...	ORPHA:93274
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Severe short stature, Osteopenia, Alopecia, Rickets, Abnormal form of the vertebral bodies, Osteo...	ORPHA:2636
Osteosarcoma	Increased circulating lactate dehydrogenase concentration, Pathologic fracture, Abnormal circulat...	ORPHA:668
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Elevated circulating cre...	OMIM:151800
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Recurrent pneumonia, Inflammatory abnormality of the skin, Failure to thrive, Recurrent otitis me...	ORPHA:277
Crisponi Syndrome	Limitation of joint mobility, Camptodactyly of finger, Hypohidrosis, Hyperhidrosis, Flexion contr...	ORPHA:1545
X-Linked Charcot-Marie-Tooth Disease Type 4	Scoliosis, Skeletal muscle atrophy, Kyphosis	ORPHA:101078
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Spinal rigidity, Dilated cardiomyopathy, Neuropathic spinal arthropathy, Ragged-red muscle fibers...	ORPHA:352447
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Hyperphosphatemia, Kyphosis, Failure to thrive, Increased bone mineral density, Eleva...	OMIM:239000
Cutaneous Collagenous Vasculopathy	Erythema, Skin rash, Petechiae, Macule, Pruritus	ORPHA:280779
2Q31.1 Microdeletion Syndrome	Camptodactyly of finger, Abnormal hair morphology, Inguinal hernia, Hypoplastic toenails, Ventric...	ORPHA:251014
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Joint stiffness, Scoliosis, Kyphosis, Abnormal testis morphology	ORPHA:1548
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Crohn's disease, Perianal abscess, Acu...	OMIM:618935
Mucopolysaccharidosis Type 4	Platyspondyly, Spinal canal stenosis, Abnormal heart valve morphology, Abnormal dental enamel mor...	ORPHA:582
Neutropenia, Severe Congenital, X-Linked	Eczematoid dermatitis	OMIM:300299
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Highly arched eyebrow, Abnormal heart morphology, Cryptorchidism, Ventricular septal defect, Low ...	ORPHA:404440
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatitis, Decreased li...	ORPHA:415
Desmoplastic Small Round Cell Tumor	Hepatomegaly, Cachexia, Weight loss, Lymphadenopathy, Abnormal peritoneum morphology, Testicular ...	ORPHA:83469
Basel-Vanagaite-Smirin-Yosef Syndrome	Sparse eyebrow, Cholelithiasis, Recurrent pneumonia, Contracture of the proximal interphalangeal ...	ORPHA:464738
Interstitial Granulomatous Dermatitis With Arthritis	Erythema, Rheumatoid arthritis, Inflammatory abnormality of the skin, Pruritus, Papule	ORPHA:79099
Oculodentodigital Dysplasia, Autosomal Recessive	Sparse hair, Fine hair, Sparse eyelashes	OMIM:257850
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Hypospadias, Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentratio...	ORPHA:93111
Intellectual Disability-Developmental Delay-Contractures Syndrome	Distal amyotrophy, Limitation of joint mobility, Kyphosis, Scoliosis, Congenital foot contractures	ORPHA:3454
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated circulating hepatic transaminase concentration, Abnormal lymph node morphology, Abnormal...	ORPHA:54251
Distal Duplication 5Q	Hernia, Aplasia/Hypoplasia of the gallbladder, Eczematoid dermatitis, Cryptorchidism	ORPHA:96097
Camurati-Engelmann Disease	Craniofacial osteosclerosis, Skeletal muscle atrophy, Limitation of joint mobility, Abnormality o...	ORPHA:1328
Familial Isolated Hypoparathyroidism	Abnormal dental enamel morphology, Hypocalcemia, Myopathy, Hypoparathyroidism, Short stature	ORPHA:2238
Plaa-Associated Neurodevelopmental Disorder	Contractures of the large joints, Failure to thrive, Hirsutism, Limb hypertonia, Hyperhidrosis, K...	ORPHA:521426
Shwachman-Diamond Syndrome	Pneumonia, Eczematoid dermatitis, Pancreatic hypoplasia, Failure to thrive, Hypopituitarism, Exoc...	ORPHA:811
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Splenomegaly,...	ORPHA:163746
Pseudohypoparathyroidism, Type Ib	Obesity, Hyperphosphatemia, Hypocalcemia, Pseudohypoparathyroidism	OMIM:603233
Budd-Chiari Syndrome	Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Portal hypertensi...	ORPHA:131
Coffin-Lowry Syndrome	Craniofacial hyperostosis, Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Hypopl...	ORPHA:192
Mucolipidosis Iii Gamma	Aortic valve stenosis, Increased serum beta-hexosaminidase, Joint stiffness, Increased iduronate ...	OMIM:252605
Vascular Ehlers-Danlos Syndrome	Periodontitis, Cryptorchidism, Excessive wrinkled skin, Mitral valve prolapse, Abnormal eyelash m...	ORPHA:286
Castleman Disease	Restrictive cardiomyopathy, Follicular hyperplasia, Jaundice, Generalized lymphadenopathy, Weight...	ORPHA:160
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Contractures of the large joints, Failure to thrive, Hirsutism, Palmoplantar hyperhidrosis, Hypom...	OMIM:617527
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Micropenis, Polycystic kidney dysplasia, Renal dysplasia, Enlarged kidney	OMIM:613091
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Preauricular skin tag, Eczematoid dermatitis, Failure to thrive, Obesity, Redundant neck skin, Ps...	OMIM:617157
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Exocrine pancreatic insufficiency, Hypothyroidism, Interstitial pneumonitis, Eczematoid dermatitis	OMIM:615952
Kenny-Caffey Syndrome, Type 2	Severe short stature, Hyperphosphatemia, Hypocalcemia, Hypoparathyroidism, Thickened cortex of lo...	OMIM:127000
Erdheim-Chester Disease	Abnormal pericardium morphology, Osteomyelitis, Xanthelasma, Skin rash, Abnormal aortic valve mor...	ORPHA:35687
Xfe Progeroid Syndrome	Hypoalbuminemia, Severe short stature, Elevated circulating hepatic transaminase concentration, F...	OMIM:610965
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Abnormal vertebral morphology, Aspiration pneumonia, Abnormal toenail morphology, Ventricular sep...	ORPHA:444077
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Platyspondyly, Hip osteoarthritis, Hump-shaped mound of bone in central and posterior portions of...	OMIM:313400
Marfanoid-Progeroid-Lipodystrophy Syndrome	Generalized lipodystrophy, Melanocytic nevus, Intrauterine growth retardation, Absence of subcuta...	OMIM:616914
Frank-Ter Haar Syndrome	Acne, Osteopenia, Secundum atrial septal defect, Growth delay, Cortical irregularity, Redundant n...	OMIM:249420
8P23.1 Microdeletion Syndrome	Hypoplastic left heart, Tetralogy of Fallot, Hypertrophic cardiomyopathy, Atrioventricular canal ...	ORPHA:251071
Dyrk1A-Related Intellectual Disability Syndrome	Eczematoid dermatitis, Failure to thrive, Breast hypoplasia, Cryptorchidism, Multiple joint contr...	ORPHA:464306
Immunodeficiency 97 With Autoinflammation	Eczematoid dermatitis, Recurrent otitis media, Enterocolitis, Colitis, Recurrent skin infections	OMIM:619802
Riboflavin Transporter Deficiency	Iris hypopigmentation, Skeletal muscle atrophy, Limb muscle weakness, Cachexia, Facial palsy	ORPHA:97229
Fanconi Anemia	Hypopigmented skin patches, Cryptorchidism, Weight loss, Atrial septal defect, Pyridoxine-respons...	ORPHA:84
W Syndrome	Abnormality of the scalp hair, Upper lip pit, Camptodactyly, Acne	ORPHA:2804
Ruvalcaba Syndrome	Limited elbow extension, Inguinal hernia, Cryptorchidism, Delayed puberty, Short stature, Scolios...	OMIM:180870
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Osteopenia, Splenomegaly, Hypocalcemia, Hypokalemia, Hyponatremia, Calcinosis, Growth delay	OMIM:617913
Multiple Pterygium Syndrome, Escobar Variant	Dysplastic patella, Congenital diaphragmatic hernia, Cryptorchidism, Short neck, Thoracolumbar sc...	OMIM:265000
Hoyeraal-Hreidarsson Syndrome	Generalized hypopigmentation of hair, Failure to thrive, Premature graying of hair, Generalized h...	ORPHA:3322
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Hypersplenism, Impaired...	OMIM:301068
Oculocutaneous Albinism Type 2	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat...	ORPHA:79432
Attrv30M Amyloidosis	Cardiomegaly, Weight loss, Cardiomyopathy	ORPHA:85447
Lujo Hemorrhagic Fever	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	ORPHA:319213
Complete Androgen Insensitivity Syndrome	Sparse pubic hair, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Spar...	ORPHA:99429
Primary Hepatic Neuroendocrine Carcinoma	Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration...	ORPHA:100085
Diencephalic Syndrome	Cachexia, Hyperhidrosis, Decreased body weight	ORPHA:1672
Osteopetrosis With Renal Tubular Acidosis	Bone marrow hypocellularity, Failure to thrive, Pancytopenia, Leukopenia, Abnormal circulating en...	ORPHA:2785
Hypocalcemia, Autosomal Dominant 1	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Short stature, Increased circulatin...	OMIM:601198
Osteogenesis Imperfecta, Type Iii	Dentinogenesis imperfecta, Neonatal short-limb short stature, Kyphosis, Disproportionate short-li...	OMIM:259420
Inflammatory Bowel Disease (Crohn Disease) 1	Inflammation of the large intestine, Recurrent aphthous stomatitis, Crohn's disease, Weight loss,...	OMIM:266600
Wolf-Hirschhorn Syndrome	Decreased muscle mass, Cryptorchidism, Ventricular septal defect, Low posterior hairline, Radioul...	OMIM:194190
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Kyphosis, Abnormal form of the vertebral bodies, Bilateral cryptorchidism, Myopathy, Hip contract...	ORPHA:3042
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c...	OMIM:617156
6Q Terminal Deletion Syndrome	Highly arched eyebrow, Failure to thrive, Obesity, Low anterior hairline, Hyperkeratosis	ORPHA:75857
Acute Promyelocytic Leukemia	Pancytopenia, Leukopenia, Leukocytosis, Petechiae, Ecchymosis, Weight loss, Lymphadenopathy, Neut...	ORPHA:520
Alagille Syndrome 1	Cholestasis, Cirrhosis, Duplicated collecting system, Renal dysplasia, Focal segmental glomerulos...	OMIM:118450
Pseudoachondroplasia	Delayed epiphyseal ossification, Atlantoaxial dislocation, Platyspondyly, Hypoplasia of the odont...	OMIM:177170
Al Amyloidosis	Hypoalbuminemia, Abnormal cardiac ventricle morphology, Howell-Jolly bodies, Abnormal heart morph...	ORPHA:85443
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Pallor, In...	OMIM:301310
Viss Syndrome	Mitral valve prolapse, Ventricular septal defect, Contracture of the proximal interphalangeal joi...	OMIM:619472
Weismann-Netter Syndrome	Severe short stature, Horizontal sacrum, Calvarial hyperostosis, Scoliosis, Kyphosis	OMIM:112350
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Absent pubertal growth spurt, Obesity, Short stature, Scoliosis, Kyphosis	ORPHA:464282
Marden-Walker Syndrome	Joint contracture of the hand, Congenital contracture, Decreased muscle mass, Postnatal growth re...	OMIM:248700
Caroli Syndrome	Hypersplenism, Hyperbilirubinemia, Congenital hepatic fibrosis, Elevated circulating alkaline pho...	ORPHA:480520
Pseudoxanthoma Elasticum	Striae distensae, Skin rash, Excessive wrinkled skin, Lack of skin elasticity, Multiple lipomas, ...	ORPHA:758
Bannayan-Riley-Ruvalcaba Syndrome	Irregular hyperpigmentation, Skeletal muscle atrophy, Nevus, Myopathy, Joint hypermobility, Hashi...	ORPHA:109
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Aplasia/Hypoplasia of the nails, Hyperbilirubinemia, Absent gallbladder, Hypocalcemia, Cryptorchi...	ORPHA:163979
Spondyloepiphyseal Dysplasia Congenita	Platyspondyly, Kyphosis, Growth delay, Lumbar hyperlordosis, Limited elbow movement, Short neck, ...	ORPHA:94068
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:618883
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hypoplasia of the odontoid process, Decreased proportion of CD8-positive T cells, Lymphopenia, De...	ORPHA:508533
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Skeletal muscle atrophy, Multiple joint contractures, Femur fracture, Spina bifida occulta, Flexi...	OMIM:618291
Sympathetic Ophthalmia	Posterior uveitis, Erythema, Alopecia, Vitiligo, Poliosis	ORPHA:79098
Lymphatic Filariasis	Lymphadenitis, Orchitis, Knee osteoarthritis, Vaginal hydrocele, Glomerulonephritis, Hydrocele te...	ORPHA:2035
Autosomal Recessive Spondylocostal Dysostosis	Abnormal form of the vertebral bodies, Umbilical hernia, Camptodactyly of finger, Intrauterine gr...	ORPHA:2311
Intellectual Developmental Disorder, Autosomal Dominant 73	Highly arched eyebrow, Recurrent otitis media, Melanocytic nevus, Thick eyebrow, Limited elbow ex...	OMIM:620450
Wieacker-Wolff Syndrome, Female-Restricted	Hip contracture, Weakness of facial musculature, Limited shoulder movement, Short neck, Achilles ...	OMIM:301041
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Parathyroid agenesis, Congenital hypoparathyroid...	ORPHA:2239
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Recurrent pneumonia, Failure ...	OMIM:614700
Mucolipidosis Iii Alpha/Beta	Increased serum beta-hexosaminidase, Limitation of joint mobility, Cardiomyopathy, Increased idur...	OMIM:252600
Cole-Carpenter Syndrome 2	Lambdoidal craniosynostosis, Osteopenia, Coronal craniosynostosis, Dentinogenesis imperfecta, Pla...	OMIM:616294
Acute Disseminated Encephalomyelitis	Optic neuritis, Myelitis, Herpes simplex encephalitis, Viral hepatitis	ORPHA:83597
Autosomal Recessive Faciodigitogenital Syndrome	Hypopigmentation of hair, Dry hair, Widow's peak, Coarse hair	ORPHA:1974
Atypical Rett Syndrome	Growth delay, Inappropriate laughter, Reduced social reciprocity, Scoliosis, Kyphosis	ORPHA:3095
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Limitation of joint mobility, Carpal osteolysis, Camptodactyly of finger, Metacarpal osteolysis, ...	ORPHA:2774
Huntington Disease-Like 2	Weight loss	OMIM:606438
Harrod Syndrome	Hypopigmented skin patches, Failure to thrive, Intrauterine growth retardation, Cryptorchidism, J...	ORPHA:2115
Eosinophilic Gastroenteritis	Allergic rhinitis, Atopic dermatitis, Hypoalbuminemia, Leukocytosis, Eosinophilia, Weight loss, E...	ORPHA:2070
Weismann-Netter Syndrome	Severe short stature, Abnormal form of the vertebral bodies, Abnormal cortical bone morphology, A...	ORPHA:3344
Laryngotracheoesophageal Cleft Type 4	Abnormal form of the vertebral bodies, Abnormal mesentery morphology, Abnormality of the spleen, ...	ORPHA:93941
Poland Syndrome	Acute leukemia, Abnormality of the liver, Absence of subcutaneous fat, Congenital diaphragmatic h...	ORPHA:2911
Wild Type Attr Amyloidosis	Aortic valve stenosis, Hypertrophic cardiomyopathy, Elevated circulating alkaline phosphatase con...	ORPHA:330001
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Aortic valve stenosis, Ventricular hypertrophy, Ventricular septal defect, Intervertebral space n...	OMIM:143095
Cardiac-Urogenital Syndrome	Accessory spleen, Congenital diaphragmatic hernia, Cryptorchidism, Hepatopulmonary fusion, Penosc...	OMIM:618280
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia, Pseudohypoparathyroidism	OMIM:203330
Alexander Disease Type I	Cachexia, Scoliosis, Failure to thrive	ORPHA:363717
Ring Chromosome 13 Syndrome	Alopecia, Growth delay, Short neck, Hypoplasia of the gallbladder, Abnormality of skin pigmentati...	ORPHA:96176
Congenital Fiber-Type Disproportion Myopathy	Cor pulmonale, Ankle flexion contracture, Hypoplasia of the musculature, Failure to thrive, Shoul...	ORPHA:2020
Gitelman Syndrome	Hypermagnesemia, Chondrocalcinosis, Failure to thrive, Hypomagnesemia, Gout, Neoplasm of the panc...	ORPHA:358
Spastic Paraplegia 46, Autosomal Recessive	Scoliosis, Limb muscle weakness, Kyphosis, Lower limb muscle weakness	OMIM:614409
Wolman Disease	Hepatic failure, Splenomegaly, Hepatomegaly, Cachexia, Anemia, Bone-marrow foam cells, Growth delay	ORPHA:75233
Adams-Oliver Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Alopecia, Small nail, Supernumerary nipple, Tetral...	OMIM:100300
Polycythemia Vera	Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Portal hypertension, Portal vein thromb...	ORPHA:729
Hermansky-Pudlak Syndrome 3	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:614072
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Atypical scarring of skin, Skin erosion, Nevus, Failure to thrive, Milia, Absent toenail, Decreas...	ORPHA:89842
Solitary Fibrous Tumor	Hypophosphatemic rickets, Low back pain, Neoplasm of the liver, Weight loss, Reduced C-peptide le...	ORPHA:2126
Neuroblastoma	Increased circulating lactate dehydrogenase concentration, Increased circulating ferritin concent...	ORPHA:635
Scapuloperoneal Spinal Muscular Atrophy	Progressive distal muscular atrophy, Peroneal muscle atrophy, Kyphosis, Scapular muscle atrophy, ...	OMIM:181405
Juvenile Huntington Disease	Weight loss	ORPHA:248111
Lenz-Majewski Hyperostotic Dwarfism	Severe short stature, Limitation of joint mobility, Cranial hyperostosis, Hypoplastic fingernail,...	ORPHA:2658
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Discoid lupus rash, Cellulitis, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteom...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Discoid lupus rash, Cellulitis, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteom...	OMIM:233710
Galloway-Mowat Syndrome 7	Minimal change glomerulonephritis, Eczematoid dermatitis	OMIM:618348
Idiopathic Chronic Eosinophilic Pneumonia	Atopic dermatitis, Weight loss	ORPHA:2902
Central Diabetes Insipidus	Hyponatremia, Weight loss, Failure to thrive	ORPHA:178029
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Osteopenia, Limitation of joint mobility, Cardiomyopathy, Hypertrichosis, Joint hypermobility, Hy...	ORPHA:480880
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancytopenia, Pal...	ORPHA:35858
Cdags Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Sparse eyebrow, Sparse eyelashes, Sagittal...	OMIM:603116
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Discoid lupus rash, Cellulitis, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteom...	OMIM:233690
Coffin-Lowry Syndrome	Highly arched eyebrow, Coarse hair, Hyperconvex fingernails, Thick eyebrow, Inguinal hernia, Uter...	OMIM:303600
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion	Acne, Inguinal hernia, Ventricular septal defect, Atrial septal defect, Short stature, Scoliosis,...	ORPHA:261190
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Increased circulating lactate dehydrogenase concentration, Acute monocytic le...	ORPHA:514
X-Linked Intellectual Disability Due To Gria3 Mutations	Slender build, Cryptorchidism, Joint hypermobility, Short stature, Facial hypotonia, Abnormality ...	ORPHA:364028
Infection-Related Hemolytic Uremic Syndrome	Pneumonia, Septic arthritis, Pallor, Leukocytosis, Hypocalcemia, Hyponatremia, Pancreatitis, Thro...	ORPHA:544482
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Recurrent pneumonia, Molluscoid pseudotumors, Inguinal hernia, Excessive wrinkled skin, Palmoplan...	OMIM:225400
Hypoparathyroidism, Familial Isolated, 1	Hypoparathyroidism, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:146200
Clark-Baraitser syndrome	Obesity, Joint hypermobility, Macroorchidism, Scoliosis, Kyphosis	OMIM:300602
Coffin-Siris Syndrome 1	Facial hypertrichosis, Dry hair, Postnatal growth retardation, Hypoplastic fifth fingernail, Cong...	OMIM:135900
Restrictive Dermopathy 1	Sparse eyebrow, Short nail, Skin erosion, Epidermal hyperkeratosis, Sparse eyelashes, Absent eyel...	OMIM:275210
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Abnormal pericardium mo...	ORPHA:67
Psoriasis-Related Juvenile Idiopathic Arthritis	Uveitis, Sacroiliac arthritis, Psoriasiform lesion, Psoriasiform dermatitis, Malar rash, Skin ras...	ORPHA:85436
Spondyloepimetaphyseal Dysplasia, Krakow Type	Allergic rhinitis, Annular pancreas, Eczematoid dermatitis, Elbow contracture, Knee flexion contr...	OMIM:618162
Behçet Disease	Acne, Recurrent aphthous stomatitis, Splenomegaly, Infectious encephalitis, Myositis, Increased i...	ORPHA:117
Classic Pantothenate Kinase-Associated Neurodegeneration	Pigmentary retinopathy, Weight loss, Increased susceptibility to fractures, Aspiration pneumonia	ORPHA:216866
Prader-Willi Syndrome Due To Translocation	Iris hypopigmentation, Abnormal temper tantrums, Hypopigmentation of the skin, Head-banging, Decr...	ORPHA:177907
Cardiofacioneurodevelopmental Syndrome	Aplasia/Hypoplasia of the nails, Abdominal situs inversus, Atrioventricular canal defect, Cryptor...	OMIM:619123
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Highly arched eyebrow, Kyphosis, Long eyelashes, Intrauterine growth retardation, Cryptorchidism,...	OMIM:619005
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Weight loss, Bronchiectasis, Lymphadenopathy	ORPHA:411703
Stickler Syndrome, Type I	Platyspondyly, Joint stiffness, Spondylolisthesis, Mitral valve prolapse, Joint hypermobility, Mo...	OMIM:108300
Fowler Urethral Sphincter Dysfunction Syndrome	Abnormality of the ovary, Acne, Polycystic ovaries, Hirsutism	ORPHA:2795
Spondyloepiphyseal Dysplasia Congenita	Platyspondyly, Hypoplasia of the odontoid process, Atlantoaxial instability, Limited hip movement...	OMIM:183900
Neuropathy, Congenital Hypomyelinating, 3	Facial diplegia, Cachexia, Hypomimic face, Limb joint contracture, Flexion contracture, Arthrogry...	OMIM:618186
Pelizaeus-Merzbacher Disease	Failure to thrive in infancy, Joint stiffness, Cachexia, Short stature, Scoliosis, Kyphosis	ORPHA:702
Triosephosphate Isomerase Deficiency	Normocytic anemia, Cholelithiasis, Skeletal muscle atrophy, Kyphosis, Failure to thrive, Splenome...	OMIM:615512
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal reticulocyte morphology, Short neck, Hyperlordosis, Short stature, Kyphosis, Fused cervi...	ORPHA:2522
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Hyperbilirubinemia, Hepatic steatosis, Ventricular septal defect, Decreased body weight, Bicuspid...	OMIM:619475
Acromegaly	Pituitary prolactin cell adenoma, Spinal canal stenosis, Abnormal fingernail morphology, Hypertro...	ORPHA:963
Achondroplasia	Thoracolumbar kyphosis, Hip joint hypermobility, Disproportionate short stature, Rhizomelia, Cerv...	ORPHA:15
Branchiooculofacial Syndrome	Supernumerary nipple, Premature graying of hair, Dermal atrophy, Ectopic thymus tissue, Postnatal...	OMIM:113620
8Q21.11 Microdeletion Syndrome	Eczematoid dermatitis, Cryptorchidism, Camptodactyly of finger	ORPHA:284160
Smith-Mccort Dysplasia 1	Platyspondyly, Hypoplasia of the odontoid process, Limitation of joint mobility, Atlantoaxial ins...	OMIM:607326
X-Linked Intellectual Disability, Snyder Type	Sparse eyebrow, Kyphosis, Abnormality of the Leydig cells, Decreased muscle mass, Testicular atro...	ORPHA:3063
Dysostosis, Stanescu Type	Macroglossia, Massively thickened long bone cortices, Abnormal dental enamel morphology, Short ne...	ORPHA:1798
Igg4-Related Thyroid Disease	Euthyroid goiter, Goiter, Sialadenitis, Hypocalcemia, Sclerosing cholangitis, Hashimoto thyroidit...	ORPHA:64744
Subcorneal Pustular Dermatosis	Erythema, Rheumatoid arthritis, Pustule, Hypothyroidism, Hyperthyroidism, Pruritus	ORPHA:48377
Thanatophoric Dysplasia Type 1	Platyspondyly, Lethal short-limbed short stature, Joint stiffness, Redundant skin, Excessive wrin...	ORPHA:1860
Cono-Spondylar Dysplasia	Short nail, Failure to thrive, Short neck, Scoliosis, Kyphosis	ORPHA:420794
X-Linked Charcot-Marie-Tooth Disease Type 5	Scoliosis, Kyphosis, Skeletal muscle hypertrophy	ORPHA:99014
Familial Glucocorticoid Deficiency	Leydig cell neoplasia, Failure to thrive, Hypertrophic cardiomyopathy, Generalized hyperpigmentat...	ORPHA:361
Chronic Beryllium Disease	Mediastinal lymphadenopathy, Weight loss, Abnormal proportion of CD4-positive T cells, Lymphocyti...	ORPHA:133
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Skeletal muscle atrophy, Melanocytic nevus, Abnormality of retinal pigmentation, Abnormal mitral ...	ORPHA:1969
Leptospirosis	Uveitis, Hepatitis, Skin rash, Rhabdomyolysis, Elevated serum transaminases during infections, Op...	ORPHA:509
46,Xy Sex Reversal 5	Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating...	OMIM:613080
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Subcutaneous nodule, Papule, Hyperkeratosis	ORPHA:79280
Medullary Thyroid Carcinoma	Pheochromocytoma, Abnormal liver parenchyma morphology, Weight loss, Hyperhidrosis, Lymphadenopat...	ORPHA:1332
Cholera	Aspiration pneumonia, Hypocalcemia, Hypokalemia, Palmoplantar cutis laxa, Hyponatremia, Abnormal ...	ORPHA:173
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Growth delay, Bilateral camptodactyly, Short stature, Scoliosis, Kyphosis, Synophrys	OMIM:619557
Distal Triplication 15Q	Abnormal heart morphology, Intrauterine growth retardation, Large for gestational age, Hernia, At...	ORPHA:314588
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Cellulitis, Erythema, Uveitis, Erysipelas, Fasciitis, Skin rash, Orchitis, Myositis, Peritonitis,...	ORPHA:32960
Hereditary Central Diabetes Insipidus	Weight loss, Growth delay	ORPHA:30925
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Short stature, Scoliosis, Kyphosis	ORPHA:1858
Bronchial Neuroendocrine Tumor	Pneumonia, Abnormal pulmonary valve cusp morphology, Hepatic failure, Chronic noninfectious lymph...	ORPHA:97287
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Allergic rhinitis, Atopic dermatitis, Failure to thrive, Eosinophilic microabscess formation in t...	ORPHA:411696
Osteogenesis Imperfecta	Enlarged vertebral pedicles, Mitral valve prolapse, Decreased skull ossification, Osteopenia, Cer...	ORPHA:666
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dilat...	OMIM:607459
Multicystic Dysplastic Kidney	Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure...	ORPHA:1851
Riddle Syndrome	Pneumonia, Erythema, Recurrent pneumonia, Otitis media, Recurrent sinusitis, Chronic sinusitis, G...	ORPHA:420741
Anaplastic Thyroid Carcinoma	Goiter, Abnormal skeletal muscle morphology, Weight loss, Lymphadenopathy, Nodular goiter	ORPHA:142
Beta-Ketothiolase Deficiency	Pallor, Leukocytosis, Hyperuricemia, Hyperammonemia, Weight loss, Thrombocytosis, Hepatomegaly	ORPHA:134
Juvenile Amyotrophic Lateral Sclerosis	Upper-limb joint contracture, Distal amyotrophy, Skeletal muscle atrophy, Muscle fiber atrophy, R...	ORPHA:300605
Lowe Oculocerebrorenal Syndrome	Joint contracture of the hand, Osteomalacia, Postnatal growth retardation, Cryptorchidism, Reduce...	OMIM:309000
Igg4-Related Aortitis	Hypereosinophilia, Increased inflammatory response, Low back pain, Weight loss, Elevated circulat...	ORPHA:449400
Vici Syndrome	Hypopigmentation of the skin, Failure to thrive, Ocular albinism, Penile hypospadias, Myopathy, E...	OMIM:242840
Nocardiosis	Pneumonia, Cellulitis, Lymphadenitis, Cutaneous abscess, Liver abscess, Keratitis, Abnormal heart...	ORPHA:31204
Thymic Carcinoma	Neoplasm of the thymus, Weight loss, Mediastinal lymphadenopathy, Hyperhidrosis	ORPHA:99868
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Oculocutaneous Albinism Type 1	Iris hypopigmentation, Generalized hypopigmentation of hair, White eyebrow, White eyelashes, Gene...	ORPHA:352731
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Umbilical hernia, Atrophic scars, Inguinal hernia, Cutis laxa, Follicular hyperkeratosis	OMIM:614557
Kyphoscoliotic Ehlers-Danlos Syndrome	Atypical scarring of skin, Umbilical hernia, Inguinal hernia, Follicular hyperkeratosis, Synophry...	ORPHA:536545
Kanzaki Disease	Dry skin, Hyperkeratosis, Petechiae	OMIM:609242
Familial Pancreatic Carcinoma	Peritoneal abscess, Elevated circulating hepatic transaminase concentration, Pancreatic adenocarc...	ORPHA:1333
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Umbilical hernia, Scoliosis, Kyphosis, Joint hypermobility	ORPHA:2181
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Periauricular skin pits, Kyphosis	ORPHA:77300
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Failure to thrive in infancy, Panniculitis, Skin rash, Lipodystrophy	OMIM:617099
Dyggve-Melchior-Clausen Disease	Platyspondyly, Hypoplasia of the odontoid process, Limitation of joint mobility, Rhizomelic arm s...	OMIM:223800
Rheumatoid Arthritis	Digital flexor tenosynovitis, Rheumatoid arthritis, Joint stiffness, Weight loss, Elevated circul...	OMIM:180300
Familial Colorectal Cancer Type X	Pituitary adenoma, Cardiac diverticulum, Pancreatic adenocarcinoma, Weight loss, Abnormal circula...	ORPHA:440437
Robinow Syndrome, Autosomal Dominant 3	Long eyelashes, Cryptorchidism, Patent foramen ovale, Ventricular septal defect, Short neck, Shor...	OMIM:616894
Granulomatous Disease, Chronic, X-Linked	Discoid lupus rash, Cellulitis, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteom...	OMIM:306400
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Ankle flexion contracture, Eczematoid dermatitis, Camptodactyly of finger, Cryptorchidism, Knee f...	ORPHA:468631
Multiple Endocrine Neoplasia, Type Iib	Failure to thrive in infancy, Pheochromocytoma, Thick eyebrow, Myopathy, Joint hypermobility, Par...	OMIM:162300
Coccidioidomycosis	Pneumonia, Indurated nodule, Atypical scarring of skin, Folliculitis, Urticarial plaque, Morbilli...	ORPHA:228123
Somatomammotropinoma	Pituitary adenoma, Increased circulating prolactin concentration, Pituitary prolactin cell adenom...	ORPHA:314769
Genitopalatocardiac Syndrome	Abnormal mesentery morphology, Abnormality of the gallbladder, Intrauterine growth retardation, C...	ORPHA:2075
Pallister-Killian Syndrome	Hyperpigmented streaks, Aortic valve stenosis, Supernumerary nipple, Congenital diaphragmatic her...	OMIM:601803
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Delayed patellar ossification, Joint hypermobility, Posterior scalloping of vertebral bodies, Sho...	OMIM:603546
Hypomagnesemia 3, Renal	Hyperphosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Rickets, Hypo...	OMIM:248250
Hirschsprung Disease	Short stature, Failure to thrive in infancy, Weight loss	ORPHA:388
Spinocerebellar Ataxia, Autosomal Recessive 8	Scoliosis, Kyphosis	OMIM:610743
Thymoma	Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Myositis, Weight loss, Gl...	ORPHA:99867
Systemic Capillary Leak Syndrome	Leukocytosis, Weight loss, Pancreatitis, Myocarditis, Pericarditis	ORPHA:188
Huntington Disease-Like 1	Weight loss	ORPHA:157941
Spinocerebellar Ataxia 48	Cachexia	OMIM:618093
Lopes-Maciel-Rodan Syndrome	Scoliosis, Kyphosis	OMIM:617435
Fabry Disease	Subcutaneous nodule, Hypohidrosis, Hyperkeratosis, Arthritis	ORPHA:324
Acute Liver Failure	Elevated circulating hepatic transaminase concentration, Hepatitis, Hepatocellular necrosis, Hepa...	ORPHA:90062
X-Linked Creatine Transporter Deficiency	Redundant skin, Joint hypermobility, Cachexia, Abnormal circulating creatine concentration, Short...	ORPHA:52503
Cowden Syndrome 1	Subcutaneous lipoma, Goiter, Skin tags, Lymphopenia, Ovarian cyst, Ovarian carcinoma, Acrokeratos...	OMIM:158350
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia, Weight loss, Rhabdomyolysis, Goiter	OMIM:188580
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Rheumatoid arthritis, Elevated circulating creatinine concentration, Psoriasif...	ORPHA:49041
Smith-Lemli-Opitz Syndrome	Rhizomelia, Growth delay, Abnormal form of the vertebral bodies, Atrioventricular canal defect, A...	ORPHA:818
Fructose Intolerance, Hereditary	Elevated circulating hepatic transaminase concentration, Proximal tubulopathy, Failure to thrive,...	OMIM:229600
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Slender build, Scoliosis, Kyphosis	OMIM:300676
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Platyspondyly, Severe short stature, Rhizomelia, Disproportionate short stature, Recurrent otitis...	OMIM:616482
Congenital Tufting Enteropathy	Cholestatic liver disease, Failure to thrive, Punctate keratitis, Weight loss, Arthritis	ORPHA:92050
Familial Osteodysplasia, Anderson Type	Kyphosis, Abnormal form of the vertebral bodies, Thick eyebrow, Abnormal cortical bone morphology...	ORPHA:2769
Malignant Atrophic Papulosis	Arteritis, Abnormal pericardium morphology, Dermal atrophy, Peritonitis, Weight loss, Abnormal my...	ORPHA:679
Primrose Syndrome	Sparse body hair, Cryptorchidism, Hip contracture, Absent axillary hair, Irregular vertebral endp...	OMIM:259050
Neuroendocrine Tumor Of The Colon	Abnormal pulmonary valve cusp morphology, Elevated circulating hepatic transaminase concentration...	ORPHA:100080
Exercise-Induced Malignant Hyperthermia	Hepatic failure, Hyperphosphatemia, Decreased liver function, Dry skin, Hypocalcemia, Rhabdomyoly...	ORPHA:466650
Craniofacioskeletal Syndrome	Intrauterine growth retardation, Absent gallbladder, Hypocalcemia, Cryptorchidism, Ventricular se...	OMIM:300712
Jacobsen Syndrome	Annular pancreas, Eczematoid dermatitis, Inguinal hernia, Cryptorchidism, Aplasia/Hypoplasia of t...	ORPHA:2308
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Pigmentary retinopathy, Osteomyelitis, Flexion contracture of finger, Bone spicule pigmentation o...	ORPHA:88628
Chromosome 3Q13.31 Deletion Syndrome	Decreased testicular size, Kyphosis, Cryptorchidism	OMIM:615433
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Atopic dermatitis	OMIM:619074
Osteogenesis Imperfecta, Type Viii	Platyspondyly, Osteopenia, Dentinogenesis imperfecta, Kyphosis, Disproportionate short-limb short...	OMIM:610915
Trisomy 9P	Hypoplastic fingernail, Fingernail dysplasia, Hypoplastic toenails, Short neck, Scoliosis, Kyphos...	ORPHA:236
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Distal amyotrophy, Hyperhidrosis, Flexion contracture, Scoliosis, Kyphosis	OMIM:609541
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Dry skin, Dermal atrophy, Skin rash, Numerous pigmented freckles, Cachexia, Short stature	ORPHA:220295
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Mediastinal lymphadenopathy, Enlarged lacrimal glands, Pancy...	OMIM:181000
Witteveen-Kolk Syndrome	High anterior hairline, Eczematoid dermatitis, Fine hair, Decreased response to growth hormone st...	OMIM:613406
Juvenile Nephropathic Cystinosis	Hypouricemia, Growth delay, Failure to thrive, Elevated circulating creatinine concentration, Hyp...	ORPHA:411634
Vexas Syndrome	Inflammatory abnormality of the skin, Arteritis, Neutrophilic infiltration of the skin, Nasal cho...	OMIM:301054
Pneumocystosis	Increased circulating lactate dehydrogenase concentration, Interstitial pneumonitis, Weight loss,...	ORPHA:723
Cowden Syndrome 5	Subcutaneous lipoma, Goiter, Skin tags, Ovarian cyst, Palmoplantar hyperkeratosis, Hydrocele test...	OMIM:615108
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Sparse eyebrow, Fine hair, Nail dystrophy, Sparse eyelashes, Onycholysis, Sparse scalp hair	OMIM:614748
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Sparse eyebrow, Limitation of joint mobility, Slender build, Lumbar hyperlordosis, Large for gest...	ORPHA:457359
Velocardiofacial Syndrome	Umbilical hernia, Tetralogy of Fallot, Inguinal hernia, Hypocalcemia, Ventricular septal defect, ...	OMIM:192430
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Platyspondyly, Thoracolumbar kyphosis, Rhizomelia, Disproportionate short-limb short stature, Tho...	OMIM:618019
Holt-Oram Syndrome	Hypoplastic left heart, Atrioventricular canal defect, Joint stiffness, Ventricular septal defect...	ORPHA:392
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Pneumonia, Platyspondyly, Recurrent pneumonia, Inflammatory abnormality of the skin, Chronic muco...	OMIM:102700
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Sparse eyebrow, Abnormal heart morphology, Failure to thrive in infancy, Lumbar hyperlordosis, In...	ORPHA:500150
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Frontal balding, Failure to thrive, Decreased testicular size, Hirsutism, Hyponatremia, Weight lo...	ORPHA:90794
Neuroendocrine Tumor Of The Rectum	Abnormal pulmonary valve cusp morphology, Elevated circulating hepatic transaminase concentration...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Abnormal pulmonary valve cusp morphology, Elevated circulating hepatic transaminase concentration...	ORPHA:100082
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	High anterior hairline, Disproportionate short-limb short stature, Supernumerary nipple, Elbow fl...	OMIM:619194
Pancreatic Triacylglycerol Lipase Deficiency	Rickets, Osteomalacia, Exocrine pancreatic insufficiency, Colitis, Iron deficiency anemia, Kerato...	ORPHA:309031
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Joint hypermobility, Hypercholesterolemia, Short stature, Scoliosis, Kyphosis	ORPHA:2479
Lymphedema-Distichiasis Syndrome	Cellulitis, Yellow nails, Tetralogy of Fallot, Ventricular septal defect, Distichiasis, Conjuncti...	OMIM:153400
Cowden Syndrome 6	Subcutaneous lipoma, Goiter, Skin tags, Ovarian cyst, Palmoplantar hyperkeratosis, Hydrocele test...	OMIM:615109
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Growth delay, HbH hemoglobin, Umbilical hernia, Postnatal growth retardation, Cryptorchidism, Ven...	OMIM:301040
Fliedner-Zweier Syndrome	Obesity, Joint hypermobility, Ventricular septal defect, Bicuspid aortic valve, Scoliosis, Kyphosis	OMIM:620511
Autosomal Dominant Kenny-Caffey Syndrome	Hyperphosphatemia, Growth delay, Hypocalcemic tetany, Postnatal growth retardation, Intrauterine ...	ORPHA:93325
Idiopathic Bronchiectasis	Acute infectious pneumonia, Cachexia, Bronchiectasis	ORPHA:60033
Ménétrier Disease	Hypoalbuminemia, Weight loss, Hypochromic microcytic anemia, Hypoproteinemia, Giant hypertrophic ...	ORPHA:2494
Familial Tumoral Calcinosis	Erythema, Hypopigmented skin patches, Periarticular subcutaneous nodules, Skin rash, Hyperhidrosi...	ORPHA:53715
Immunodeficiency 17	Recurrent otitis media, Eczematoid dermatitis, Failure to thrive, Chronic oral candidiasis	OMIM:615607
Autoinflammatory Disease, Systemic, With Vasculitis	Erythema, Atopic dermatitis, Failure to thrive, Parotitis, Colitis, Arthritis, Conjunctivitis, Pu...	OMIM:620376
Warburg-Cinotti Syndrome	Erythema, Ankle flexion contracture, Elbow flexion contracture, Wrist flexion contracture, Flexio...	OMIM:618175
Oculocerebral Hypopigmentation Syndrome, Cross Type	Iris hypopigmentation, Abnormality of the urinary system, Ureteral stenosis, Ocular albinism, Ing...	ORPHA:2719
Diffuse Alveolar Hemorrhage	Elevated circulating creatinine concentration, Leukocytosis, Weight loss, Thrombocytopenia, Anemia	ORPHA:90060
Infantile Krabbe Disease	Hypopigmented skin patches, Failure to thrive, Shoulder girdle muscle weakness, Abnormal circulat...	ORPHA:206436
Rett Syndrome	Skeletal muscle atrophy, Cachexia, Short stature, Scoliosis, Kyphosis	OMIM:312750
Mend Syndrome	Aortic valve stenosis, Kyphosis, Failure to thrive, Abnormal heart morphology, Elevated 8(9)-chol...	ORPHA:401973
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Lower limb muscle weakness, Hypomagnesemia, Obesity, Rhabdomyolysis, Weight...	ORPHA:79102
Cryptogenic Organizing Pneumonia	Elevated circulating C-reactive protein concentration, Weight loss, Leukocytosis, Neutrophilia	ORPHA:1302
Mosaic Trisomy 20	Spinal canal stenosis, Intrauterine growth retardation, Cryptorchidism, Abnormal mitral valve mor...	ORPHA:1724
Trisomy 18	Camptodactyly of finger, Intrauterine growth retardation, Congenital diaphragmatic hernia, Abnorm...	ORPHA:3380
Floating-Harbor Syndrome	Atopic dermatitis, Umbilical hernia, Recurrent otitis media, Long eyelashes, Cryptorchidism, Ingu...	OMIM:136140
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Failure to thrive, Cryptorchidism, Short stature, Flexion contracture, Overweight, Scoliosis, Kyp...	ORPHA:500055
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Iris hypopigmentation, Hypopigmented skin patches, Hyperpigmentation of the skin, Gait disturbanc...	ORPHA:3214
Gallbladder Neuroendocrine Tumor	Elevated gamma-glutamyltransferase level, Biliary tract neoplasm, Chronic noninfectious lymphaden...	ORPHA:100086
Idiopathic Juvenile Osteoporosis	Osteoporosis, Vertebral compression fracture, Kyphosis, Recurrent fractures	ORPHA:85193
Peritoneal Cystic Mesothelioma	Peritonitis, Weight loss	ORPHA:168816
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Skeletal muscle atrophy, Knee flexion contracture, Ventricular septal defect, Thoracic scoliosis,...	OMIM:603387
Malignant Peritoneal Mesothelioma	Peritonitis, Weight loss	ORPHA:168811
Marfanoid Habitus With Situs Inversus	Situs inversus totalis, Mitral valve prolapse, Scoliosis, Kyphosis, Pulmonic stenosis, Hyperexten...	OMIM:609008
Immunodeficiency 96	Recurrent otitis media, Eczematoid dermatitis	OMIM:619774
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Parathyroid hypoplasia, Abnormal heart morphology, Psoriasiform dermatitis, Hypocalcemia, Severe ...	ORPHA:2237
Junctional Epidermolysis Bullosa With Pyloric Atresia	Urinary bladder inflammation, Nail dystrophy, Aplasia cutis congenita, Enamel hypoplasia, Recurre...	ORPHA:79403
Marfan Syndrome	Osteopenia, Skeletal muscle atrophy, Striae distensae, Slender build, Inguinal hernia, Mitral val...	ORPHA:558
Osteogenesis Imperfecta, Type Iv	Dentinogenesis imperfecta, Kyphosis, Increased susceptibility to fractures, Bowing of limbs due t...	OMIM:166220
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Cryptorchidism, Hyponatremia, Hypertriglyceridemia...	OMIM:618183
Nephroblastoma	Neoplasm of the liver, Weight loss, Lymphadenopathy	ORPHA:654
Wiedemann-Rautenstrauch Syndrome	Increased circulating prolactin concentration, Recurrent otitis media, Slender build, Cryptorchid...	ORPHA:3455
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Reduced natural killer cell count, Inflammation of the la...	OMIM:301074
Chikungunya	Erythema, Petechiae, Skin rash, Infectious encephalitis, Crusting erythematous dermatitis, Skin v...	ORPHA:324625
Waardenburg Syndrome	Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, White foreloc...	ORPHA:3440
Sapho Syndrome	Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin rash, Palmoplan...	ORPHA:793
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Skin ulcer, Lymphadenopathy	ORPHA:424016
Neuroendocrine Tumor Of Stomach	Abnormal pulmonary valve cusp morphology, Hepatic failure, Elevated circulating hepatic transamin...	ORPHA:100075
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Limb hypertonia, Kyphosis	ORPHA:500180
17Q11 Microdeletion Syndrome	Nevus anemicus, Leukemia, Osteopenia, Abnormal heart morphology, Hypertrophic cardiomyopathy, Fre...	ORPHA:97685
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Erythema, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chronic mucocutaneous ca...	OMIM:147060
Intellectual Developmental Disorder, X-Linked 112	Abnormal heart morphology, Pyelonephritis, Cryptorchidism, Joint hypermobility, Kyphoscoliosis, B...	OMIM:301111
Muenke Syndrome	Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches	ORPHA:53271
Congenital Enterocyte Heparan Sulfate Deficiency	Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ...	ORPHA:103910
Inflammatory Bowel Disease 11	Inflammation of the large intestine, Weight loss	OMIM:191390
Myasthenic Syndrome, Congenital, 20, Presynaptic	Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Facial palsy, Scoliosis, Kyphosis	OMIM:617143
Mullerian Aplasia And Hyperandrogenism	Acne, Hirsutism	OMIM:158330
Marden-Walker Syndrome	Severe short stature, Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, ...	ORPHA:2461
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Short stature, Cachexia	ORPHA:1389
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Atopic dermatitis	ORPHA:3240
Cole-Carpenter Syndrome	Abnormal form of the vertebral bodies, Abnormal dental enamel morphology, Intrauterine growth ret...	ORPHA:2050
Dystonia 1, Torsion, Autosomal Dominant	Multiple joint contractures, Hyperlordosis, Torticollis, Facial palsy, Scoliosis, Kyphosis	OMIM:128100
Campomelic Dysplasia	Kyphosis, Tracheomalacia, Short neck, Poorly ossified cervical vertebrae, Short stature, Tracheob...	ORPHA:140
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Hypokalemia, Weight loss, Goiter	OMIM:613239
Klatskin Tumor	Weight loss, Lymphadenopathy, Cholangiocarcinoma, Hepatomegaly, Jaundice, Extrahepatic cholestasis	ORPHA:99978
Perry Syndrome	Weight loss	ORPHA:178509
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss, Bronchiectasis	ORPHA:79127
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Elevated circulating deoxyuridine concentration, Distal amyotrophy, Slender build, Reduced tissue...	OMIM:603041
Oculocutaneous Albinism Type 1B	Iris hypopigmentation, Hypopigmentation of the skin, Melanocytic nevus, Abnormality of retinal pi...	ORPHA:79434
Osteoporosis-Pseudoglioma Syndrome	Platyspondyly, Osteopenia, Kyphosis, Pathologic fracture, Increased susceptibility to fractures, ...	OMIM:259770
Primary Triglyceride Deposit Cardiomyovasculopathy	Rimmed vacuoles, Inflammatory abnormality of the skin, Cardiomyopathy, Coronary artery stenosis, ...	ORPHA:565612
Microphthalmia, Lenz Type	Preauricular skin tag, Camptodactyly of finger, Cryptorchidism, Hyperlordosis, Short stature, Sco...	ORPHA:568
Familial Thrombocytosis	Chronic myelogenous leukemia, Splenomegaly, Acute myeloid leukemia, Weight loss, Hyperhidrosis, T...	ORPHA:71493
Yunis-Varon Syndrome	Aspiration pneumonia, Cryptorchidism, Anterior concavity of thoracic vertebrae, Sparse eyelashes,...	OMIM:216340
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Dilated cardiomyopathy, Hypomagnesemia, Hypocalcemic tetany, Hypocalcemia, Hepatic calcification,...	ORPHA:73224
Isolated Permanent Neonatal Diabetes Mellitus	Pancreatic hypoplasia, Failure to thrive, Abnormal heart morphology, Intrauterine growth retardat...	ORPHA:99885
Progressive Non-Infectious Anterior Vertebral Fusion	Kyphosis, Abnormality of the vertebral column, Abdominal situs inversus, Joint stiffness, Hemiver...	ORPHA:2062
Choreoacanthocytosis	Peroneal muscle atrophy, Dilated cardiomyopathy, Distal amyotrophy, Increased circulating lactate...	ORPHA:2388
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Trichiasis, Sparse eyebrow, Thin eyebrow, Inguinal hernia, Kyphosis	OMIM:609944
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Aortic valve stenosis, Small for gestational age, Breast aplasia, Abnormal heart morphology, Intr...	ORPHA:268261
Neuroblastoma, Susceptibility To, 1	Skin nodule, Anemia, Weight loss, Failure to thrive	OMIM:256700
Cap Polyposis	Atrophic gastritis, Weight loss	ORPHA:160148
Stickler Syndrome	Platyspondyly, Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Kyphosis, Spinal c...	ORPHA:828
Ermine Phenotype	Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Ocular albinism, ...	ORPHA:999
Cirrhosis, Familial	Biliary cirrhosis, Micronodular cirrhosis, Increased level of propylene glycol in blood, Cirrhosi...	OMIM:215600
Perry Syndrome	Weight loss, Inappropriate behavior	OMIM:168605
Fryns-Smeets-Thiry Syndrome	Short stature, Cachexia, Scoliosis, Joint hypermobility	ORPHA:2058
Liposarcoma	Subcutaneous nodule, Weight loss	ORPHA:69078
Developmental Malformations-Deafness-Dystonia Syndrome	Short stature, Macroglossia, Scoliosis, Kyphosis	ORPHA:79107
Charge Syndrome	Lymphopenia, Postnatal growth retardation, Cryptorchidism, Ventricular septal defect, Overriding ...	OMIM:214800
Monosomy 9Q22.3	Palmar pits, Plantar pits, Abnormality of the vertebral column, Umbilical hernia, Large for gesta...	ORPHA:77301
Aspartylglucosaminuria	Platyspondyly, Spondylolysis, Pathologic fracture, Spondylolisthesis, Joint hypermobility, Hernia...	OMIM:208400
Generalized Glucocorticoid Resistance Syndrome	Frontal balding, Increased circulating cortisol level, Adrenal hyperplasia, Hirsutism, Decreased ...	ORPHA:786
Thrombocytopenia 1	Eczematoid dermatitis, Petechiae	OMIM:313900
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Kyphosis, Synostosis of the proximal phalanx of the thumb with the 1st metacarpal, Left ventricul...	OMIM:300967
Acro-Renal-Mandibular Syndrome	Intrauterine growth retardation, Butterfly vertebrae, Congenital diaphragmatic hernia, Short neck...	ORPHA:958
Foxg1 Syndrome Due To 14Q12 Microdeletion	Macroglossia, Scoliosis, Kyphosis, Growth delay	ORPHA:261144
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Atopic dermatitis, Joint contracture of the hand, Flexion contracture of finger, Congenital finge...	ORPHA:466768
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Sparse eyebrow, Large for gestational age, Joint hypermobility, Hyperlordosis, Scoliosis, Kyphosis	OMIM:617011
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic valve stenosis, Ankle flexion contracture, Small for gestational age, Failure to thrive, I...	ORPHA:464311
Wiskott-Aldrich Syndrome	Inflammation of the large intestine, Recurrent pneumonia, Eczematoid dermatitis, Recurrent otitis...	OMIM:301000
Keppen-Lubinsky Syndrome	Failure to thrive, Generalized lipodystrophy, Absence of subcutaneous fat, Lack of facial subcuta...	OMIM:614098
Oculopharyngodistal Myopathy 1	Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Dilated cardi...	OMIM:164310
Pyomyositis	Testicular teratoma, Leukocytosis, Myositis, Weight loss, Subcutaneous nodule, Recurrent cutaneou...	ORPHA:764
Spondyloperipheral Dysplasia	Platyspondyly, Rhizomelic arm shortening, Limited elbow extension, Rhizomelic leg shortening, Sho...	OMIM:271700
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Atrophic scars, Joint hypermobility, Hyperlordosis, Scoliosis, Kyphosis, Hyperextensibility of th...	OMIM:617821
Ileal Neuroendocrine Tumor	Hepatic failure, Elevated circulating hepatic transaminase concentration, Iron deficiency anemia,...	ORPHA:100078
Amyotrophic Lateral Sclerosis	Progressive distal muscular atrophy, Skeletal muscle atrophy, Upper limb muscle weakness, Lower l...	ORPHA:803
Lynch Syndrome	Pituitary adenoma, Cardiac diverticulum, Pancreatic adenocarcinoma, Salivary gland neoplasm, Neop...	ORPHA:144
Pulmonary Alveolar Microlithiasis	Stippled calcification in carpal bones, Mitral valve calcification, Weight loss, Hepatomegaly, In...	ORPHA:60025
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Bicoronal synostosis, Cryptorchidism, Joint hypermobility, Delayed puberty, Osteoporo...	OMIM:619718
Alkaptonuria	Aortic valve calcification, Limited hip movement, Thickened Achilles tendon, Intervertebral disk ...	OMIM:203500
Spondyloarthropathy, Susceptibility To, 1	Hip osteoarthritis, Inflammation of the large intestine, Kyphosis, Sacroiliac arthritis, Psoriasi...	OMIM:106300
Mend Syndrome	Aortic valve stenosis, Failure to thrive, Cryptorchidism, Redundant neck skin, Spotty hypopigment...	OMIM:300960
Brachyolmia Type 3	Platyspondyly, Childhood-onset short-trunk short stature, Short neck, Scoliosis, Kyphosis	OMIM:113500
Oromandibular Dystonia	Weight loss, Torticollis	ORPHA:93958
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Abnormality of the submandibular glands, Enlargement of parotid gland, ...	ORPHA:79078
Brown-Vialetto-Van Laere Syndrome 1	Skeletal muscle atrophy, Hand muscle atrophy, Facial palsy, Scoliosis, Kyphosis	OMIM:211530
Primary Fanconi Renotubular Syndrome	Hypouricemia, Decreased circulating carnitine concentration, Osteomalacia, Hypophosphatemic ricke...	ORPHA:3337
Autosomal Recessive Ataxia, Beauce Type	Scoliosis, Skeletal muscle atrophy, Kyphosis, Lower limb muscle weakness	ORPHA:88644
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Perioral eczema, Recurrent aphthous stomatitis, Colitis, Recurrent sinusitis	OMIM:613960
Albinism, Oculocutaneous, Type Ia	White hair, Ocular albinism, Absent skin pigmentation, Blue irides, Albinism, Hypopigmentation of...	OMIM:203100
Oculogastrointestinal Muscular Dystrophy	Cachexia, Myopathy, Skeletal muscle atrophy, Abnormal mitral valve morphology	ORPHA:1876
Fatal Familial Insomnia	Weight loss, Hyperhidrosis	OMIM:600072
Pseudoxanthoma Elasticum, Forme Fruste	Yellow papule, Scoliosis, Kyphosis, Mitral valve prolapse	OMIM:177850
Cleidocranial Dysplasia 1	Spondylolysis, Delayed pubic bone ossification, Increased susceptibility to fractures, Spondyloli...	OMIM:119600
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Inflammation of the large intestine, Bronchiectasis, Lymphopenia, Knee flexion contracture, Kyphosis	OMIM:619708
Malt Lymphoma	Posterior uveitis, Weight loss, Hyperhidrosis, Lymphadenopathy, Anemia, Mediastinal lymphadenopathy	ORPHA:52417
Juvenile Polyposis Of Infancy	Hypoalbuminemia, Subcutaneous lipoma, Abnormal heart morphology, Cachexia, Short stature, Atrial ...	ORPHA:79076
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Posterior uveitis, Nongranulomatous uveitis, Panuveitis, Chorioretinal scar, E...	ORPHA:91500
Tropical Pancreatitis	Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Weight loss...	ORPHA:103918
Melkersson-Rosenthal Syndrome	Inflammatory abnormality of the skin, Cheilitis	ORPHA:2483
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Weight loss, Keratitis, Failure to thrive, Aspiration pneumonia	ORPHA:1018
Glossopharyngeal Neuralgia	Abnormality of the cervical spine, Weight loss	ORPHA:221098
Alzahrani-Kuwahara Syndrome	Dry skin, Eczematoid dermatitis	OMIM:619268
Autoimmune Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Increased circulating lactate dehydrogenase concentra...	ORPHA:747
Gerstmann-Straussler Disease	Weight loss, Lower limb muscle weakness	OMIM:137440
Postencephalitic Parkinsonism	Camptocormia, Kyphosis	ORPHA:97349
Orofaciodigital Syndrome Iii	Kyphosis, Hyperconvex nail	OMIM:258850
Atelis Syndrome 2	Sacral dimple, Thrombocytopenia, Anemia, Supravalvar pulmonary stenosis, Kyphosis, Pulmonic stenosis	OMIM:620185
Rett Syndrome, Congenital Variant	Scoliosis, Kyphosis, Reduced social reciprocity	OMIM:613454
Pancreatoblastoma	Pancreatic calcification, Jaundice, Weight loss, Abnormal lymph node morphology	ORPHA:677
Hereditary Late-Onset Parkinson Disease	Weight loss, Hypomimic face	ORPHA:411602
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Thyroid hyperplasia, Weight loss, Small for gestational age, Goiter	ORPHA:424
Tropical Endomyocardial Fibrosis	Hypoalbuminemia, Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Righ...	ORPHA:75565
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Cerebrocostomandibular Syndrome	Tracheomalacia, Intrauterine growth retardation, Ventricular septal defect, Short stature, Kyphosis	ORPHA:1393
Renal Nutcracker Syndrome	Anemia, Weight loss	ORPHA:71273
Familial Gestational Hyperthyroidism	Weight loss, Thyroid hyperplasia, Goiter	ORPHA:99819
Shprintzen Omphalocele Syndrome	Lumbar hyperlordosis, Decreased body weight, Omphalocele, Short stature, Scoliosis, Kyphosis	OMIM:182210
Carney-Stratakis Syndrome	Weight loss	ORPHA:97286
Autosomal Recessive Spastic Paraplegia Type 35	Kyphosis, Foot dorsiflexor weakness, Lower limb hypertonia	ORPHA:171629
Goodpasture Syndrome	Pallor, Weight loss, Glomerulonephritis, Increased blood urea nitrogen, Anemia	OMIM:233450
Spondyloepimetaphyseal Dysplasia, X-Linked	Platyspondyly, Hypoplasia of the odontoid process, Abnormality of alkaline phosphatase level, Lum...	OMIM:300106
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia	ORPHA:3217
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Scoliosis, Kyphosis, Aspiration pneumonia	OMIM:619482
Norrie Disease	Failure to thrive, Cryptorchidism, Cachexia, Delayed puberty, Scoliosis	ORPHA:649

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 Mpzl3

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 Mpzl3.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Loss of Mpzl3 function causes various skin abnormalities and greatly reduced adipose depots.	The Journal of investigative dermatology (February 2014)	Mpzl3^tm1(KOMP)Mbp	PMC4057944

Order Mouse and ES Cells

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
Mpzl3^tm1(KOMP)Mbp	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Mpzl3^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Mpzl3^{tm2e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Mpzl3^{em1(IMPC)Ccpcz}	Exon Deletion	Mice
Mpzl3^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Mpzl3^{tm2a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, 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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