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Gene: Scd1 MGI:98239

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

stearoyl-Coenzyme A desaturase 1

Synonyms:

Scd-1, SCD, stearoyl-CoA desaturase

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 Scd1 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 Scd1 (0 diseases)
Human diseases predicted to be associated with Scd1 (2097 diseases)

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

The table below shows human diseases predicted to be associated to Scd1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Proliferating Trichilemmal Cyst	Sparse scalp hair, Epidermoid cyst, Skin ulcer	ORPHA:492
Hypotrichosis Simplex Of The Scalp	Abnormal eyebrow morphology, Sparse scalp hair, Parakeratosis, Epidermal acanthosis, Absent facia...	ORPHA:90368
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Palmoplantar Keratoderma And Congenital Alopecia 2	Alopecia totalis, Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis, Nail dystrophy, N...	OMIM:212360
Tooth Agenesis, Selective, 8	Sparse eyebrow, Dry skin, Sparse hair	OMIM:617073
Keratoderma Hereditarium Mutilans With Ichthyosis	Alopecia, Scaling skin on fingertip, Epidermal acanthosis, Parakeratosis, Hypergranulosis, Palmop...	ORPHA:79395
Graham Little-Piccardi-Lassueur Syndrome	Sparse scalp hair, Alopecia, Sparse axillary hair, Sparse pubic hair, Pruritus, Perifollicular hy...	ORPHA:505
Peeling Skin Syndrome 3	Abnormal hair morphology, Erythema, White scaling skin	OMIM:616265
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection	Chronic furunculosis, Pyoderma gangrenosum	OMIM:619986
Dermoodontodysplasia	Ectodermal dysplasia, Thin skin, Nail dysplasia, Trichodysplasia, Dry skin	OMIM:125640
Ichthyosis, Annular Epidermolytic, 1	Abnormal hair morphology, Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Congenital b...	OMIM:607602
Bathing Suit Ichthyosis	Alopecia, Parakeratosis, Epidermal acanthosis, Thickened skin, Erythroderma, Palmoplantar hyperke...	ORPHA:100976
Ichthyosis, Congenital, Autosomal Recessive 14	Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbullous icht...	OMIM:617571
Ichthyosis Hystrix, Curth-Macklin Type	Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin	OMIM:146590
Acrokeratosis Verruciformis	Ridged nail, Epidermal acanthosis, Acrokeratosis, Punctate palmoplantar hyperkeratosis, Hyperkera...	OMIM:101900
Peeling Skin Syndrome 4	Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Nail dystrophy, Ich...	OMIM:607936
Hypotrichosis 1	Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Abnormality of the nai...	OMIM:605389
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Concave nail, Diffuse palmoplantar hyperkeratosis, Nonepidermolytic palmoplantar hyperkeratosis, ...	ORPHA:530838
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Abnormal fingernail morphology, Sparse eyebrow, Hypoplastic toenails, Palmoplantar kera...	ORPHA:2722
Dermoodontodysplasia	Sparse scalp hair, Abnormal eyelid morphology, Ectodermal dysplasia, Fingernail dysplasia, Thin s...	ORPHA:1660
Peeling Skin Syndrome 5	Hyperkeratosis, Epidermal acanthosis, Scaling skin	OMIM:617115
Ichthyosis Vulgaris	Absent keratohyalin granules, Dry skin, Ichthyosis	OMIM:146700
Schopf-Schulz-Passarge Syndrome	Ridged nail, Narrow nail, Thin nail, Poroma, Multiple eyelid margin cysts, Ectodermal dysplasia, ...	OMIM:224750
Hypotrichosis Simplex	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair	ORPHA:55654
Alopecia Universalis Congenita	Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis	OMIM:203655
Hypotrichosis 4	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair	OMIM:146550
Ulerythema Ophryogenesis	Acne, Facial erythema, Hyperkeratotic papule, Follicular hyperkeratosis, Dry skin, Contact dermat...	ORPHA:3406
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Eczema, Absent eyelashes, Dry skin, Ectodermal dysplasia,...	ORPHA:2890
Hypotrichosis 11	Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Absent axillary hair, Sparse hair,...	OMIM:615059
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Congenital alopecia totalis, Epidermal acanthosis, Sparse eyebrow, Cutis laxa, Absent pubic hair,...	ORPHA:2269
Ectodermal Dysplasia 6, Hair/Nail Type	Alopecia, Hair-nail ectodermal dysplasia, Thin toenail, Sparse hair, Dystrophic toenail	OMIM:614928
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Eczema, Pruritus, Palmoplantar keratoderm...	OMIM:618535
Ichthyosis, Congenital, Autosomal Recessive 1	Alopecia, Parakeratosis, Epidermal acanthosis, Erythroderma, Palmoplantar hyperkeratosis, Congeni...	OMIM:242300
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome	Dry skin, Ichthyosis	ORPHA:2271
Ectodermal Dysplasia/Skin Fragility Syndrome	Absent eyebrow, Anhidrosis, Absent eyelashes, Scaling skin, Nail dystrophy, Sparse hair, Alopecia...	OMIM:604536
Alopecia Areata 2	Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis	OMIM:610753
Odontoonychodermal Dysplasia	Ridged nail, Dry hair, Palmoplantar hyperkeratosis, Hyperhidrosis, Dystrophic fingernails, Thin n...	OMIM:257980
Atrichia With Papular Lesions	Sparse hair, Generalized papillary lesions	OMIM:209500
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Ectodermal dysplasia...	OMIM:129490
Olmsted Syndrome 1	Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos...	OMIM:614594
Classic Mycosis Fungoides	Alopecia, Skin rash, Eczema, Abnormal eyelid morphology, Pruritus, Erythema, Skin ulcer, Hyperker...	ORPHA:2584
Huriez Syndrome	Lack of skin elasticity, Palmoplantar keratoderma, Small nail, Dry skin, Abnormality of the nail,...	ORPHA:384
Olmsted Syndrome 2	Parakeratosis, Epidermal acanthosis, Pruritus, Perioral hyperkeratosis, Cheilitis, Palmoplantar h...	OMIM:619208
Keratosis, Focal Palmoplantar And Gingival	Circumungual hyperkeratosis, Subungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re...	OMIM:148730
Alopecia Universalis	Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis	ORPHA:701
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Type II diabetes mellitus, Poly...	ORPHA:71529
Non-Epidermolytic Palmoplantar Keratoderma	Papule, Erythema, Skin ulcer	ORPHA:2337
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Alopecia, Parakeratosis, Epidermal acanthosis, Sparse eyelashes, Thick hair, Sparse eyebrow, Prur...	OMIM:607626
Erythrokeratodermia Variabilis Et Progressiva 5	Abnormal hair morphology, Hyperkeratosis, Onychogryposis, Palmoplantar hyperkeratosis	OMIM:617756
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Parakeratosis, Epidermal acanthosis, Alopecia totalis, Posterior blepha...	OMIM:300918
Alopecia Areata 1	Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis	OMIM:104000
Erythrokeratodermia Variabilis	Alopecia, Skin rash, Abnormal hair morphology, Erythema, Patchy palmoplantar hyperkeratosis, Dry ...	ORPHA:317
Candidiasis, Familial, 1	Alopecia, Chronic mucocutaneous candidiasis, Recurrent viral infections	OMIM:114580
Erythrokeratodermia Variabilis Et Progressiva 4	Epidermal acanthosis, Erythema, Palmoplantar hyperkeratosis, Hyperkeratosis, Congenital nonbullou...	OMIM:617526
Ichthyosis, Annular Epidermolytic, 2	Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok...	OMIM:620148
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Perifolliculitis, Alopecia, Alopecia of scalp	OMIM:260910
Bazex Syndrome	Parakeratosis, Edema, Yellow nails, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Nail dyst...	ORPHA:166113
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Parakeratosis, Pruritus, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Nail dy...	OMIM:615821
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Subungual hyperkeratosis, Eczema, Scarring alopecia of scalp, Hypoplastic sweat glands, Hypohidro...	OMIM:617337
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis	Sparse hair	OMIM:246500
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m...	ORPHA:248
Acral Peeling Skin Syndrome	Macule, Erythema, Scaling skin, Skin erosion, Papule, Excessive wrinkling of palmar skin	ORPHA:263534
Ichthyosis, Congenital, Autosomal Recessive 6	Parakeratosis, Epidermal acanthosis, Erythroderma, Hypohidrosis, Hyperkeratosis, Palmoplantar ker...	OMIM:612281
Witkop Syndrome	Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair	OMIM:189500
Hidrotic Ectodermal Dysplasia	Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p...	ORPHA:189
Erythrokeratodermia Variabilis Et Progressiva 3	Epidermal acanthosis, Hypergranulosis, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar kerato...	OMIM:617525
Hypotrichosis 10	Sparse eyebrow, Sparse eyelashes, Sparse body hair	OMIM:614238
Epidermolytic Hyperkeratosis 1	Epidermal acanthosis, Scaling skin, Palmoplantar hyperkeratosis, Congenital bullous ichthyosiform...	OMIM:113800
Palmoplantar Keratoderma, Nagashima Type	Orthokeratotic hyperkeratosis, Epidermal acanthosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:615598
Kerion Celsi	Inflammatory abnormality of the skin, Recurrent cutaneous abscess formation, Alopecia, Recurrent ...	ORPHA:499
Anonychia With Flexural Pigmentation	Anonychia, Dry skin	OMIM:106750
Ectodermal Dysplasia 9, Hair/Nail Type	Concave nail, Absent eyelashes, Ectodermal dysplasia, Atrichia, Nail dystrophy, Nail dysplasia, S...	OMIM:614931
Ichthyosis-Hypotrichosis Syndrome	Sparse hair, Ichthyosis	ORPHA:91132
Hypotrichosis 6	Brittle hair, Sparse eyelashes, Sparse eyebrow, Pruritus, Erythema, Follicular hyperkeratosis, Sp...	OMIM:607903
Peeling Skin Syndrome 2	Erythema, Scaling skin	OMIM:609796
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Hyperglycemia, Polyphagia	ORPHA:329249
Elastosis Perforans Serpiginosa	Epidermal acanthosis, Skin-colored papule, Cutis laxa, Hyperkeratotic papule, Erythematous papule...	ORPHA:79148
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Onychogryposis of toenails, Dermal atrophy, Alopecia of scalp, Sparse body hair, Dystro...	OMIM:617294
Ichthyosis With Confetti	Pruritus, Hypertrichosis, Palmoplantar hyperkeratosis, Erythroderma, Hypoplastic nipples, Scaling...	OMIM:609165
Juvenile Hyaline Fibromatosis	Aplasia/Hypoplasia of the skin, Abnormal hair morphology, Subcutaneous nodule, Skin ulcer, Papule	ORPHA:2028
Amaurosis Congenita, Cone-Rod Type, With Congenital Hypertrichosis	Synophrys, Hirsutism, Photophobia, Visual impairment, Thick eyebrow	OMIM:204110
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Blindness, Reduced terminal:vellus ratio, Reduced visual acuity, Sparse hair, Pili torti	OMIM:601553
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Parakeratosis, Hyperconvex nail, Linear arrays of macular hyperkeratoses in flexural areas, Honey...	OMIM:601952
Dermatofibrosarcoma Protuberans	Subcutaneous nodule, Erythema, Skin ulcer	ORPHA:31112
Parc Syndrome	Absent eyelashes, Absent eyebrow, Alopecia	OMIM:600331
Quinquaud Folliculitis Decalvans	Recurrent skin infections, Abnormal hair morphology, Scarring alopecia of scalp, Pustule, Erythem...	ORPHA:346
Lamellar Ichthyosis	Renal insufficiency, Pruritus, Chronic otitis media, Lack of skin elasticity, Erythroderma, Dehyd...	ORPHA:313
Hypotrichosis 9	Sparse scalp hair, Sparse body hair	OMIM:614237
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Facial erythema, Dystrophic fingern...	OMIM:308800
Psoriasis 2	Hyperkeratosis, Parakeratosis, Epidermal acanthosis, Scaling skin	OMIM:602723
Ichthyosis, Congenital, Autosomal Recessive 12	White scaling skin	OMIM:617320
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ...	OMIM:232700
Chilblain Lupus 1	Abnormality of the nail, Skin ulcer	OMIM:610448
Alopecia Totalis	Alopecia, Alopecia of scalp	ORPHA:700
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Phenylketonuria	Hyperactivity, Elevated urinary phenylpyruvic acid level, Eczema, Increased level of hippuric aci...	OMIM:261600
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Pruritus, Alopecia, Plantar hyperkeratosis, Nail dystrophy	OMIM:616487
Peeling Skin Syndrome 6	Orthokeratosis, Parakeratosis, Dry skin, Scaling skin	OMIM:618084
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Plantar hyperkeratosis, Brittle hair, Epidermal hyperkeratosis, Sparse eyebrow, Leukony...	OMIM:104100
Immunodeficiency 34	Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis	OMIM:300645
Ectodermal Dysplasia 4, Hair/Nail Type	Absent eyebrow, Alopecia, Brittle hair, Hair-nail ectodermal dysplasia, Absent eyelashes, Onychol...	OMIM:602032
Alopecia-Intellectual Disability Syndrome 1	Alopecia, Alopecia universalis	OMIM:203650
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Nail dystrophy, Erythema migrans, Skin vesicle	ORPHA:158681
Angioma Serpiginosum, X-Linked	Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair	OMIM:300652
Hypotrichosis And Recurrent Skin Vesicles	Sparse scalp hair, Sparse eyelashes, Epidermal acanthosis, Sparse axillary hair, Sparse eyebrow, ...	OMIM:613102
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1	Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ...	OMIM:613000
Mannose-Binding Lectin Deficiency	Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ...	OMIM:614372
Insulin-Resistance Syndrome Type A	Hyperkeratosis, Generalized hirsutism	ORPHA:2297
Lichen Planopilaris	Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches, Skin ulcer, Onycholysis, De...	ORPHA:525
Complement Component 7 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:610102
Netherton Syndrome	Hypernatremic dehydration, Sparse scalp hair, Parakeratosis, Brittle hair, Recurrent skin infecti...	OMIM:256500
Buerger Disease	Skin ulcer, Hyperhidrosis	ORPHA:36258
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent sinopulmonary infections, Alopecia, Recurrent pneumonia, Pyoderma gangrenosum, Recurren...	OMIM:616576
Anonychia With Flexural Pigmentation	Abnormal hair morphology, Hyperkeratosis, Alopecia of scalp, Follicular hyperkeratosis, Anonychia	ORPHA:69125
L-Ferritin Deficiency	Alopecia	OMIM:615604
Alopecia-Intellectual Disability Syndrome	Sparse scalp hair, Alopecia, Hypergonadotropic hypogonadism, Short stature, Photophobia, Growth d...	ORPHA:2850
Ichthyosis, Congenital, Autosomal Recessive 13	Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:617574
Acquired Ichthyosis	Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis, Dry skin	ORPHA:454
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def...	ORPHA:71526
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Hyperkeratosis, Epidermal acanthosis	OMIM:615028
Osteopenia And Sparse Hair	Sparse hair	OMIM:259690
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Epidermal acanthosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, Hyperkerat...	OMIM:616295
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	Ridged nail, Nail pits, Congenital alopecia totalis	ORPHA:169095
Lupus Erythematosus Tumidus	Urticarial plaque, Erythematous plaque, Annular cutaneous lesion, Scaling skin	ORPHA:90283
Microcephalic Primordial Dwarfism, Montreal Type	Abnormal hair quantity, Prematurely aged appearance, Cryptorchidism, Dry skin, Low posterior hair...	ORPHA:2617
Acral Self-Healing Collodion Baby	Localized epidermolytic hyperkeratosis, Palmoplantar scaling skin, Erythema, Lack of skin elasticity	ORPHA:281127
Keratosis Palmoplantaris Striata Ii	Palmoplantar keratoderma, Epidermal acanthosis	OMIM:612908
Dracunculiasis	Recurrent cutaneous abscess formation, Subcutaneous nodule, Skin ulcer	ORPHA:231
Dowling-Degos Disease 4	Epidermal acanthosis, Papule	OMIM:615696
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis	ORPHA:1008
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Widow's peak, Atopic dermatitis, Sparse hair, Thick eyebrow, Ptosis	OMIM:606242
Verrucous Hemangioma	Hyperkeratotic papule, Skin plaque, Epidermal acanthosis	ORPHA:464318
Idiopathic Localized Lipodystrophy	Scleroderma, Morphea, Erythema, Scaling skin	ORPHA:90158
Congenital Heart Defects And Ectodermal Dysplasia	Medial flaring of the eyebrow, Sparse scalp hair, Thin skin, High anterior hairline, Dry skin, Fr...	OMIM:617364
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Alopecia totalis	ORPHA:1014
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl...	ORPHA:284426
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Congenital Factor Xii Deficiency	Penetrating foot ulcers	ORPHA:330
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Hypermelanotic macule, Multinodular goiter, Alopecia of scalp, Hypomelanotic macule, Sc...	OMIM:618373
Familial Reactive Perforating Collagenosis	Perifolliculitis, Inflammatory abnormality of the skin, Abnormal fingernail morphology, Maculopap...	ORPHA:79147
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Psoriasiform dermatitis, Recurrent skin infections, Hypergranulosis, Acantholysis, Eosinophilic i...	OMIM:615508
Necrobiosis Lipoidica	Indurated nodule, Skin nodule, Erythema, Skin ulcer, Atrophic scars, Annular cutaneous lesion, Sk...	ORPHA:542592
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Aredyld	Ectodermal dysplasia, Generalized hypotrichosis	OMIM:207780
Ichthyosis, Congenital, Autosomal Recessive 5	Parakeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosifor...	OMIM:604777
Bullous Dystrophy, Hereditary Macular Type	Acrocyanosis, Alopecia totalis, Abnormality of the nail	OMIM:302000
Aplasia Cutis-Myopia Syndrome	Aplasia cutis congenita, Meningitis, Skin ulcer	ORPHA:1117
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections	OMIM:308220
Acrokeratosis Verruciformis Of Hopf	Parakeratosis, Epidermal acanthosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperke...	ORPHA:79151
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Increased serum lepti...	OMIM:617885
Thumb Deformity And Alopecia	Alopecia	OMIM:188150
Pruritic Urticarial Papules And Plaques Of Pregnancy	Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Facial erythema, Pruritis on hand...	ORPHA:64745
Peeling Skin Syndrome 1	Brittle hair, Onycholysis, Nail dystrophy, Palmoplantar hyperhidrosis, Scaling skin	OMIM:270300
Psoriasis 14, Pustular	Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Cholangitis, Pustule, Erythema, Oli...	OMIM:614204
Hyperkeratosis Lenticularis Perstans	Papule, Aplasia/Hypoplasia of the skin, Skin ulcer	ORPHA:409
Albinism, Oculocutaneous, Type Ib	Photophobia, Hypopigmentation of hair, Visual impairment, Albinism	OMIM:606952
Red Skin Pigment Anomaly Of New Guinea	Abnormal hair morphology, Photophobia	OMIM:266350
Netherton Syndrome	Sparse scalp hair, Sparse eyelashes, Eczema, Skin rash, Ectopic kidney, Sparse eyebrow, Abnormal ...	ORPHA:634
Obesity And Hypopigmentation	Red hair, Hyperinsulinemia, Polyphagia	OMIM:620195
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Alopecia, Plantar hyperkeratosis, Hyperkeratotic papule, Skin fragility with non-scarring blister...	ORPHA:79397
Recessive X-Linked Ichthyosis	Hyperkeratosis, Dry skin, Ichthyosis	ORPHA:461
Ichthyosis, Congenital, Autosomal Recessive 9	Epidermal acanthosis, Hypergranulosis, Hypohidrosis, Hyperkeratosis, Congenital nonbullous ichthy...	OMIM:615023
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph...	OMIM:158000
Albinism, Oculocutaneous, Type Vi	Photophobia, Fair hair, Reduced visual acuity, Visual impairment	OMIM:113750
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Sparse scalp hair, Alopecia, Recurrent respiratory infections, Sparse eyebrow, Hypothyroidism, Fi...	ORPHA:1882
Leopard Syndrome 2	Curly hair, Epicanthus, Webbed neck, Dry skin, Downslanted palpebral fissures	OMIM:611554
Parana Hard Skin Syndrome	Short stature, Thickened skin, Growth delay, Hyperkeratosis, Generalized hirsutism	ORPHA:2812
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent respiratory infections, Recurrent bacterial skin infections, Recurrent viral infections...	ORPHA:217390
Amyloidosis, Primary Localized Cutaneous, 1	Dry skin, Scaling skin	OMIM:105250
Vulvovaginal Gingival Syndrome	Ridged nail, Parakeratosis, Epidermal acanthosis, Pruritus, Erythema	ORPHA:83453
Immunodeficiency 30	Recurrent mycobacterial infections, Recurrent infections	OMIM:614891
Acrogeria	Telangiectasia of the skin, Prematurely aged appearance, Skin ulcer, Fine hair, Excessive wrinkle...	ORPHA:2500
Ectodermal Dysplasia With Mental Retardation And Syndactyly	Sparse eyebrow, Onychogryposis of toenails, Ectodermal dysplasia, Long palpebral fissure, Dry skin	OMIM:600906
Axin2-Related Attenuated Familial Adenomatous Polyposis	Sparse hair, Ectodermal dysplasia	ORPHA:401911
Brooke-Spiegler Syndrome	Skin appendage neoplasm, Salivary gland neoplasm, Skin-colored papule, Skin nodule, Skin ulcer, A...	ORPHA:79493
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome	Generalized hirsutism, Skin ulcer	ORPHA:2218
Focal Facial Dermal Dysplasia 3, Setleis Type	Epicanthus, Aged leonine appearance, Low anterior hairline, Absent lower eyelashes, Sparse hair, ...	OMIM:227260
Leopard Syndrome 3	Curly hair, Epidermal hyperkeratosis, Low posterior hairline, Hyperkeratosis, Webbed neck, Palpeb...	OMIM:613707
Rhizomelic Chondrodysplasia Punctata	Alopecia, Epicanthus, Dry skin, Sparse body hair	ORPHA:177
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Trichorrhexis n...	ORPHA:1010
Rothmund-Thomson Syndrome, Type 1	Absent eyebrow, Premature ovarian insufficiency, Short stature, Thin nail, Absent eyelashes, Hype...	OMIM:618625
Sézary Syndrome	Alopecia, Pruritus, Palmoplantar keratoderma, Nail dystrophy, Erythroderma, Dry skin, Ectropion	ORPHA:3162
Porokeratosis 3, Multiple Types	Parakeratosis, Porokeratosis, Nail dystrophy	OMIM:175900
Trichothiodystrophy 6, Nonphotosensitive	Brittle hair, Slow-growing hair, Ichthyosis, Tiger tail banding, Dry skin	OMIM:616943
Ichthyosis, Congenital, Autosomal Recessive 8	Epidermal acanthosis, Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis	OMIM:613943
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h...	ORPHA:573
Hyperinsulinism Due To Hnf1A Deficiency	Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diabetes of the yo...	ORPHA:324575
Nicolaides-Baraitser Syndrome	Alopecia, Eczema, Curly eyelashes, Highly arched eyebrow, Abnormal hair pattern, Cryptorchidism, ...	ORPHA:3051
Aplasia Cutis Congenita	Aplasia cutis congenita over the scalp vertex, Congenital localized absence of skin, Skin ulcer	ORPHA:1114
Trichothiodystrophy 7, Nonphotosensitive	Brittle hair, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkerat...	OMIM:618546
Adult Syndrome	Sparse scalp hair, Absent nipple, Fair hair, Eczema, Sparse axillary hair, Nasolacrimal duct obst...	OMIM:103285
Schöpf-Schulz-Passarge Syndrome	Alopecia, Ovarian neoplasm, Ectodermal dysplasia, Palmoplantar keratoderma, Facial telangiectasia...	ORPHA:50944
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Aplasia/Hypoplasia of the skin, Alopecia totalis, Subcutaneous nodule, Lack of skin elasticity, A...	ORPHA:1366
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosi...	OMIM:173200
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Alopecia, Urticaria, Palmoplantar keratoderma, Fingernail dysplasia, Sparse hair, Onychogryposis ...	ORPHA:2251
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp...	OMIM:601820
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Ectodermal ...	OMIM:614941
Clouston Syndrome	Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Pa...	OMIM:129500
Centrifugal Lipodystrophy	Alopecia, Erythema, Scaling skin	ORPHA:90156
Ichthyosis Hystrix Of Curth-Macklin	Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Nail dystrophy, I...	ORPHA:79503
Moynahan Syndrome	Alopecia, Short stature, Hyperkeratosis, Hypogonadism, Sparse hair	ORPHA:2574
Ringed Hair Disease	Abnormal hair pattern, Fine hair	ORPHA:169
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyelashes, Edema, Acantholysis, Sparse eyebrow, Woolly hair, Palmoplantar hyperk...	OMIM:605676
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Excessive insulin response to glucagon test, Maternal diabetes, Hyperinsulinemia, Hypoglycemic se...	ORPHA:276580
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu...	ORPHA:70592
Complement Component 8 Deficiency, Type Ii	Recurrent Neisserial infections, Meningitis	OMIM:613789
Familial Melanoma	Abnormal hair morphology, Dry skin, Neoplasm of the pancreas	ORPHA:618
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type	Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo...	ORPHA:1808
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Sinusitis, Slow-growing hair, Eczema, Trichorrhexis nodosa, Xerostomia, H...	ORPHA:238468
Complement Factor D Deficiency	Recurrent bacterial infections	OMIM:613912
Epidermolytic Palmoplantar Keratoderma	Epidermal acanthosis, Abnormal fingernail morphology, Hypergranulosis, Epidermal hyperkeratosis, ...	ORPHA:2199
Palmoplantar Carcinoma, Multiple Self-Healing	Parakeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Nail dystrophy, Follicular hyperke...	OMIM:615225
Woolly Hair, Autosomal Recessive 3	Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa	OMIM:616760
Focal Facial Dermal Dysplasia Type Iii	Epicanthus, Sparse lower eyelashes, Redundant skin, Highly arched eyebrow, Abnormal hair pattern,...	ORPHA:1807
Pili Bifurcati	Abnormal hair morphology, Abnormality of hair texture	ORPHA:720
Ectodermal Dysplasia-Syndactyly Syndrome 1	Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Ectoderm...	OMIM:613573
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:66628
Congenital Disorder Of Glycosylation, Type Iq	Eczema, Dysphagia, Cutis laxa, Hyperkeratosis, Ichthyosis, Dry skin, Hypertrichosis	OMIM:612379
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Facial erythema, Follicul...	OMIM:612843
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Nasolacrimal duct obstruction, Nail pits, Fine hair, ...	ORPHA:978
Acrokeratoelastoidosis Of Costa	Epidermal acanthosis, Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratosis, Hyperkeratoti...	ORPHA:38
Albinism, Ocular, With Late-Onset Sensorineural Deafness	Photophobia, Visual impairment, Albinism	OMIM:300650
Atrophoderma Vermiculata	Hypoplastic pilosebaceous units, Abnormal epidermal morphology, Erythema, Periauricular skin pits...	ORPHA:79100
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Erythema, Hyperkeratosis, Scaling skin, Congenital nonbullous ichthyosiform erythroderma, Ichthyo...	OMIM:614457
Ectodermal Dysplasia 7, Hair/Nail Type	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Hair-nail ectodermal dysplasia, Abno...	OMIM:614929
Cortisone Reductase Deficiency 1	Alopecia, Acne, Infertility, Oligomenorrhea, Hirsutism	OMIM:604931
Porphyria Cutanea Tarda	Alopecia, Onycholysis, Facial hypertrichosis, Cutaneous photosensitivity, Fragile skin	OMIM:176100
Amyloidosis, Primary Localized Cutaneous, 3	Dry skin	OMIM:617920
Cutaneous Mastocytoma	Macule, Hypermelanotic macule, Hyperpigmented papule, Skin nodule, Erythema, Erythematous papule,...	ORPHA:79455
Hypotrichosis 5	Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs...	OMIM:612841
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:179494
Prolidase Deficiency	Abnormal fingernail morphology, Pruritus, Crusting erythematous dermatitis, Low anterior hairline...	ORPHA:742
Oliver-Mcfarlane Syndrome	Alopecia, Decreased response to growth hormone stimulation test, Long eyebrows, Cryptorchidism, L...	OMIM:275400
Lipoid Proteinosis Of Urbach And Wiethe	Aggressive behavior, Thickened skin, Hyperkeratosis, Patchy alopecia, Reduced epidermal extracell...	OMIM:247100
Ectodermal Dysplasia, Trichoodontoonychial Type	Abnormal eyelash morphology, Sparse hair, Abnormal toenail morphology, Sparse body hair, Aplasia/...	ORPHA:1818
Crandall Syndrome	Alopecia, Brittle hair, Fine hair, Sparse body hair, Abnormal testis morphology, Pili torti, Apla...	ORPHA:202
Punctate Palmoplantar Keratoderma Type 1	Pancreatic adenocarcinoma, Epidermal acanthosis, Hypergranulosis, Abnormal epidermal morphology, ...	ORPHA:79501
Neuropathy, Hereditary Sensory, Type Iic	Acral ulceration	OMIM:614213
Complement Component 6 Deficiency	Recurrent meningococcal disease	OMIM:612446
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Epidermal acanthosis, Hypergranulosis, Yellow nails, Palmoplantar hyperkeratosis, Orthokeratotic ...	OMIM:148700
Complex Regional Pain Syndrome	Dry skin, Abnormality of hair growth, Slow-growing nails, Erythema	ORPHA:83452
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Anhidrosis, Alopecia, Abnormal fingernail morphology, Erythema, Skin ulcer, Palmoplantar hyperhid...	ORPHA:659
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Pruritus, Sparse eyebrow, Photophobi...	OMIM:602400
Amelo-Onycho-Hypohidrotic Syndrome	Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Hypohidrosis, Hyperkeratosis, On...	ORPHA:1028
Cole Disease	Epidermal acanthosis, Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palm...	OMIM:615522
Pili Torti	Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ...	ORPHA:2889
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Ridged nail, Abnormal fingernail morphology, Pruritus, Palmoplantar hyperkeratosis, Hyperkeratosi...	ORPHA:89838
Dermatitis, Atopic	Recurrent skin infections, Eczema, Allergic rhinitis, Pruritus, Atopic dermatitis, Facial erythem...	OMIM:603165
Uncombable Hair Syndrome 2	Uncombable hair, Pili canaliculi	OMIM:617251
Rapp-Hodgkin Syndrome	Absent lacrimal punctum, Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebro...	OMIM:129400
Aquagenic Palmoplantar Keratoderma	Excessive skin wrinkling on dorsum of hands and fingers, Atopic dermatitis, Orthokeratotic hyperk...	ORPHA:498359
Marie Unna Hereditary Hypotrichosis	Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e...	ORPHA:444
Hair Defect With Photosensitivity And Mental Retardation	Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair, Cutaneous photosensitivity	OMIM:234030
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia	OMIM:261650
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Myopia, Alopecia, Decreased response to growth hormone stimulation test, Cryptorchidism, Growth d...	ORPHA:3363
Pseudopelade Of Brocq	Sparse scalp hair, Alopecia, Recurrent skin infections, Abnormal hair morphology, Abnormality of ...	ORPHA:129
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Ridged nail, Alopecia, Nail dystrophy, Nail pits	OMIM:601705
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Excessive insulin response to glucagon test, Hyperinsulinemia, Hypoglycemic seizures, Agitation, ...	ORPHA:276575
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia, Hypoglycemia	ORPHA:366
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome	Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair te...	ORPHA:2891
Pseudoprogeria Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Thin skin, Sparse hair	ORPHA:2985
X-Linked Dominant Chondrodysplasia Punctata	Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Erythroderma...	ORPHA:35173
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Woolly hair, Palmoplantar keratoderma	OMIM:610476
Myelolymphatic Insufficiency	Recurrent bacterial infections, Recurrent viral infections	OMIM:310350
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Alopecia, Recurrent skin infections, Eczema, Pruritus, Atopic dermatitis, Chronic mucocutaneous c...	OMIM:618282
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Oculocutaneous Albinism, Type Viii	Photophobia, Hypopigmentation of hair, Reduced visual acuity	OMIM:619165
Immunodeficiency, Common Variable, 5	Recurrent respiratory infections, Recurrent bacterial infections	OMIM:613495
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis	ORPHA:86923
Palmoplantar Keratoderma, Punctate Type Iii	Hyperkeratosis, Acrokeratosis	OMIM:101850
14Q11.2 Microduplication Syndrome	Epicanthus, Highly arched eyebrow, Aggressive behavior, Hypothyroidism, Attention deficit hyperac...	ORPHA:261229
Dermatoleukodystrophy	Hyperkeratosis, Thickened skin	ORPHA:1659
Ichthyosis Hystrix, Lambert Type	Hyperkeratosis, Orthokeratotic hyperkeratosis	OMIM:146600
Uv-Sensitive Syndrome 3	Dry skin	OMIM:614640
Choroidal Atrophy-Alopecia Syndrome	Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye...	ORPHA:1433
Kid Syndrome	Angular cheilitis, Scarring alopecia of scalp, Posterior blepharitis, Recurrent cutaneous fungal ...	ORPHA:477
Elastoderma	Premature skin wrinkling, Erysipelas, Eczema, Cutis laxa	ORPHA:228240
Hypotrichosis 7	Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor...	OMIM:604379
Noonan Syndrome 5	Curly hair, Epicanthus, Sparse eyebrow, Cryptorchidism, Fine hair, Small nail, Webbed neck, Dry s...	OMIM:611553
Progeroid Syndrome, Petty Type	Reduced subcutaneous adipose tissue, Epicanthus, Brittle hair, Prematurely aged appearance, Redun...	ORPHA:2963
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Brittle hair, Absent nipple, Hypohidrotic ectodermal dysplasia, Sparse hair, Dry skin, Absent hair	OMIM:614940
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Recurrent bacterial infections, Recurrent candida infections	OMIM:242870
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Aggressive behavior, Almond-shaped palpebral fissure, Abnormal hair whorl, Synophrys, Horseshoe k...	OMIM:300860
Infantile Digital Fibromatosis	Hyperkeratosis, Parakeratosis, Epidermal acanthosis	ORPHA:199267
Acrodermatitis Enteropathica	Ridged nail, Abnormal eyebrow morphology, Alopecia, Abnormal eyelid morphology, Pustule, Paronych...	ORPHA:37
Bare Lymphocyte Syndrome, Type I	Bronchiolitis, Recurrent bronchitis, Skin ulcer	OMIM:604571
Vohwinkel Syndrome, Variant Form	Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat...	OMIM:604117
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer, Purpura	ORPHA:743
Trichothiodystrophy 9, Nonphotosensitive	Epicanthus, Sparse eyebrow, Nail dystrophy, Sparse hair, Tiger tail banding	OMIM:619692
Distal Duplication 6P	Abnormal hair quantity, Abnormal eyelash morphology, Fine hair, Blepharophimosis, Dry skin, Ptosis	ORPHA:1745
Erythrokeratodermia Variabilis Et Progressiva 2	Erythema, Hypertrichosis, Skin plaque	OMIM:617524
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre...	OMIM:609734
Albinism, Oculocutaneous, Type V	Photophobia, Albinism	OMIM:615312
Congenital Disorder Of Glycosylation, Type Im	Alopecia, Inflammatory abnormality of the skin, Sparse eyelashes, Increased circulating free fatt...	OMIM:610768
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Parakeratosis, Neurogenic bladder, Epidermal acanthosis, Xerostomia, Hyperkeratosis, Ichthyosis, ...	OMIM:618527
Palmoplantar Keratoderma, Punctate Type Ia	Orthokeratosis, Punctate palmoplantar hyperkeratosis, Epidermal acanthosis, Hypergranulosis	OMIM:148600
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Alopecia, Parakeratosis, Epidermal acanthosis, Unilateral renal agenesis, Erythema, Hydronephrosi...	OMIM:308050
Palmoplantar Keratoderma, Norrbotten Recessive Type	Hyperkeratosis, Palmoplantar keratoderma	OMIM:244850
Ichthyosis, Lamellar, Autosomal Dominant	Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:146750
Palmoplantar Keratoderma And Woolly Hair	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Palmoplantar keratoderma, Wooll...	OMIM:616099
Thyrotropin-Releasing Hormone Deficiency	Dry skin	OMIM:275120
Mal De Meleda	Epidermal acanthosis, Erythema, Nonepidermolytic palmoplantar hyperkeratosis, Palmoplantar kerato...	ORPHA:87503
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Recurrent respiratory infections, Recurrent viral infections, Severe varicella zoster infection, ...	OMIM:606367
Ichthyosis, Hystrix-Like, With Deafness	Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow...	OMIM:602540
Night Blindness, Congenital Stationary, Type 1C	Dry skin	OMIM:613216
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair...	ORPHA:170
Tooth Agenesis, Selective, 4	Sparse scalp hair, Sparse eyebrow, Short eyelashes, Thin skin, Palmar hyperkeratosis, Dry skin, D...	OMIM:150400
Palmoplantar Keratoderma-Deafness Syndrome	Hyperkeratosis, Palmoplantar keratoderma	ORPHA:2202
Ichthyosis, Congenital, Autosomal Recessive 2	Anhidrosis, Alopecia, Epidermal acanthosis, Thin nail, Hypergranulosis, Abnormal hair morphology,...	OMIM:242100
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections	OMIM:616022
White Sponge Nevus 2	Hyperparakeratosis, Epidermal acanthosis, Edema	OMIM:615785
Aicardi-Goutieres Syndrome 5	Dry skin, Scaling skin	OMIM:612952
Leptin Receptor Deficiency	Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati...	OMIM:614963
Hidrotic Ectodermal Dysplasia, Halal Type	Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e...	ORPHA:1809
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	Elbow hypertrichosis, Epicanthus, Eczema, Long eyelashes, Dry skin, Downslanted palpebral fissures	OMIM:620191
Omenn Syndrome	Alopecia, Pneumonia, Edema, Pruritus, Thickened skin, Thyroiditis, Nephrotic syndrome, Erythroder...	ORPHA:39041
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities	Absent lacrimal punctum, Hypoplastic lacrimal duct, Cryptorchidism, Upslanted palpebral fissure, ...	OMIM:273390
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Acral ulceration, Skin ulcer	ORPHA:139578
Basan Syndrome	Epidermal acanthosis, Hypermelanotic macule, Nail dystrophy, Milia, Palmoplantar hypohidrosis	OMIM:129200
Obesity Due To Sim1 Deficiency	Glucose intolerance, Hyperinsulinemia, Polyphagia, Attention deficit hyperactivity disorder	ORPHA:369873
Erythrokeratodermia Variabilis Et Progressiva 6	Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate	OMIM:618531
Hyperinsulinism Due To Ucp2 Deficiency	Reactive hypoglycemia, Hypoglycemic seizures, Recurrent hypoglycemia, Agitation, Hyperinsulinemic...	ORPHA:276556
Type 1 Diabetes Mellitus	Polydipsia, Diabetes mellitus, Polyphagia, Hyperglycemia	OMIM:222100
Body Mass Index Quantitative Trait Locus 20	Hyperinsulinemia, Polyphagia	OMIM:618406
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Dowling-Degos Disease 2	Hyperkeratotic papule, Follicular hyperkeratosis	OMIM:615327
Epidermolysis Bullosa Dystrophica, Pretibial	Pruritus, Hyperkeratosis, Nail dystrophy	OMIM:131850
Congenital Lethal Erythroderma	Dry skin, Ichthyosis	ORPHA:1954
Focal Facial Dermal Dysplasia Type I	Absent eyelashes, Low anterior hairline, Sparse hair, Distichiasis, Sparse lateral eyebrow	ORPHA:79133
Uv-Sensitive Syndrome 1	Dry skin	OMIM:600630
Prolonged Electroretinal Response Suppression 2	Photophobia, Difficulty adjusting to changes in luminance, Mildly reduced visual acuity, Reduced ...	OMIM:620344
Adiposis Dolorosa	Recurrent skin infections, Telangiectasia of the skin, Sparse axillary hair, Sparse pubic hair, D...	ORPHA:36397
Hypotrichosis With Juvenile Macular Degeneration	Sparse scalp hair, Blindness, Brittle hair, Short stature, Fine hair, Hyperkeratosis, Pili torti	ORPHA:1573
Lipase Deficiency, Combined	Type II diabetes mellitus, Hypertriglyceridemia, Lipodystrophy, Pancreatitis	OMIM:246650
Flynn-Aird Syndrome	Alopecia, Primary adrenal insufficiency, Dermal atrophy, Skin ulcer	ORPHA:2047
19Q13.11 Microdeletion Syndrome	Supernumerary nipple, Cryptorchidism, Fine hair, Sparse or absent eyelashes, Thin skin, Nail dysp...	ORPHA:217346
Reticular Dysgenesis	Recurrent respiratory infections, Sepsis, Skin ulcer	ORPHA:33355
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Palpebral edema, Abnormal sweat gland morphology, Ab...	OMIM:607823
Trichothiodystrophy 1, Photosensitive	Brittle hair, Trichoschisis, Erythroderma, Fine hair, Hyperkeratosis, Keratoconjunctivitis sicca,...	OMIM:601675
Blue Cone Monochromacy	Blue cone monochromacy, Myopia, Reduced visual acuity, Photophobia, Visual impairment	OMIM:303700
Sjögren-Larsson Syndrome	Hyperkeratosis, Erythema, Dry skin, Ichthyosis	ORPHA:816
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia	OMIM:609016
Keratoderma Hereditarium Mutilans	Alopecia, Hypogonadotropic hypogonadism, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, I...	ORPHA:494
Graves Disease, Susceptibility To, 1	Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent...	OMIM:275000
Pemphigus Foliaceus	Acantholysis, Erythema, Erythematous plaque, Serpiginous cutaneous lesion, Annular cutaneous lesi...	ORPHA:79481
Craniosynostosis-Mental Retardation-Clefting Syndrome	Dry skin	OMIM:218650
Familial Keratoacanthoma	Papule, Subcutaneous nodule, Adenoma sebaceum, Skin ulcer	ORPHA:493
Ectodermal Dysplasia-Blindness Syndrome	Recurrent respiratory infections, Abnormal fingernail morphology, Skin ulcer, Fine hair, Hypohidr...	ORPHA:1806
Immunodeficiency 51	Recurrent respiratory infections, Recurrent cutaneous fungal infections, Chronic mucocutaneous ca...	OMIM:613953
6Q16 Microdeletion Syndrome	Almond-shaped palpebral fissure, Upslanted palpebral fissure, Abnormal temper tantrums, Polyphagi...	ORPHA:171829
Microphthalmia, Syndromic 8	Blepharophimosis, Cryptorchidism, Premature skin wrinkling, Short palpebral fissure	OMIM:601349
Short Stature Due To Ghsr Deficiency	Hypoglycemia, Abnormality of body weight, Decreased body weight	ORPHA:314811
Transient Neonatal Diabetes Mellitus	Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di...	ORPHA:99886
Porokeratosis Of Mibelli	Hyperkeratosis, Porokeratosis	ORPHA:735
Flynn-Aird Syndrome	Hyperkeratosis, Alopecia, Alopecia of scalp	OMIM:136300
Bachmann-Bupp Syndrome	Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Cryptorchidism, Small nail, Blepharophimosis...	OMIM:619075
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Hyperkeratosis, Parakeratosis, Agitation, Self-injurious behavior	OMIM:618339
Congenital Ichthyosiform Erythroderma	Alopecia, Pruritus, Palmoplantar keratoderma, Erythroderma, Abnormality of the nail, Ectropion	ORPHA:79394
Epidermolysis Bullosa Simplex 1C, Localized	Hyperkeratosis	OMIM:131800
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Sparse hair, Woolly hair	OMIM:278200
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Sparse hair, Dry skin, Polycystic ovaries	OMIM:268020
Tritanopia	Photophobia, Tritanomaly, Color vision test abnormality, Reduced visual acuity	ORPHA:88629
2Q23.1 Microdeletion Syndrome	Hyperactivity, Highly arched eyebrow, Abnormal repetitive mannerisms, Synophrys, Cryptorchidism, ...	ORPHA:228402
Jung Syndrome	Telecanthus, Dry skin, Low posterior hairline	ORPHA:2321
Ectodermal Dysplasia-Syndactyly Syndrome 2	Sparse hair, Ectodermal dysplasia, Palmoplantar keratoderma, Follicular hyperkeratosis	OMIM:613576
Recon Progeroid Syndrome	Progeroid facial appearance, Hyperconvex thumb nails, Livedo reticularis, Absent lower eyelashes,...	OMIM:620370
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Abnormal fingernail morphology, Eczema, Thin skin, Sparse hair, Sparse body hair	ORPHA:1810
Naegeli-Franceschetti-Jadassohn Syndrome	Subungual hyperkeratosis, Anhidrosis, Punctate palmoplantar hyperkeratosis, Dry skin, Palmoplanta...	ORPHA:69087
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Plantar hyperkeratosis, Pruritus, Hyperkeratosis, Nail dystrophy, Palmar hyperkeratosis	ORPHA:79399
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys...	ORPHA:2325
Corneal Dystrophy, Gelatinous Drop-Like	Photophobia, Reduced visual acuity, Visual impairment, Blurred vision	OMIM:204870
Acrokeratoderma, Hereditary Papulotranslucent	Fine hair	OMIM:101840
Coronary Artery Disease, Autosomal Dominant 2	Glucose intolerance, Hypertriglyceridemia, Impaired glucose tolerance, Type II diabetes mellitus	OMIM:610947
Immunodeficiency 35	Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent fungal infections...	OMIM:611521
Lipodystrophy, Familial Partial, Type 1	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride...	OMIM:608600
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Ficolin 3 Deficiency	Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre...	OMIM:613860
Immunodeficiency 31A	Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent...	OMIM:614892
Griscelli Syndrome, Type 2	Silver-gray hair, Recurrent bacterial infections, Melanin pigment aggregation in hair shafts	OMIM:607624
Macular Dystrophy, Vitelliform, 3	Metamorphopsia, Reduced visual acuity, Photophobia, Visual impairment, Color vision defect	OMIM:608161
Hypotonia-Cystinuria Syndrome	Epicanthus, Polyphagia, Ptosis	ORPHA:163690
Immunodeficiency 38 With Basal Ganglia Calcification	Recurrent mycobacterial infections	OMIM:616126
Amaurosis-Hypertrichosis Syndrome	Abnormal eyelash morphology, Synophrys, Photophobia, Coarse hair, High hypermetropia, Visual impa...	ORPHA:1021
Cone Dystrophy 4	Photophobia, Dyschromatopsia, Reduced visual acuity, Visual impairment	OMIM:613093
3-Methylglutaconic Aciduria Type 1	Hepatomegaly, Failure to thrive, Hypoglycemia	ORPHA:67046
Calciphylaxis	Secondary hyperparathyroidism, Sepsis, Skin ulcer	ORPHA:280062
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sepsis, Skin ulcer, Meni...	ORPHA:229717
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline...	ORPHA:263458
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Compulsive behaviors, Fragile nails, Fine hair	ORPHA:500166
Ectodermal Dysplasia-Skin Fragility Syndrome	Urethral stricture, Chapped lip, Recurrent skin infections, Pruritus, Recurrent pneumonia, Cheili...	ORPHA:158668
Porphyria Cutanea Tarda	Recurrent bacterial skin infections, Viral hepatitis, Hypertrichosis, Stage 5 chronic kidney dise...	ORPHA:101330
Leptin Deficiency Or Dysfunction	Hypogonadism, Polyphagia, Decreased testicular size, Decreased serum leptin	OMIM:614962
Plin1-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer...	ORPHA:280356
Ataxia-Photosensitivity-Short Stature Syndrome	Dry skin	ORPHA:1184
Noonan Syndrome 13	Epicanthus, Highly arched eyebrow, Almond-shaped palpebral fissure, Cryptorchidism, Hypertrichosi...	OMIM:619087
Cone-Rod Dystrophy, X-Linked, 1	Myopia, Nyctalopia, Reduced visual acuity, Photophobia, Visual impairment, Color vision defect	OMIM:304020
Hatipoglu Immunodeficiency Syndrome	Anhidrosis, Hypospadias, Eczema, Cryptorchidism, Thickened skin, Atopic dermatitis, Dry skin, Pre...	OMIM:620331
Syndromic X-Linked Intellectual Disability 7	Cryptorchidism, Sparse body hair	ORPHA:85274
Cone-Rod Dystrophy 13	Photophobia, Reduced visual acuity, Visual impairment, Color vision defect	OMIM:608194
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures	Blind-spot enlargment, Central scotoma, Reduced visual acuity, Photophobia, Color vision defect	OMIM:616732
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Absent eyebrow, Brittle hair, Sparse eyelashes, Absent nipple, Eczema, Concave nail, Absent eyela...	OMIM:305100
Autosomal Dominant Epidermolytic Ichthyosis	Skin ulcer, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmoplantar keratoder...	ORPHA:312
Achromatopsia	Myopia, Central scotoma, Monochromacy, Reduced visual acuity, Hypermetropia, Color vision test ab...	ORPHA:49382
Cone-Rod Synaptic Disorder, Congenital Nonprogressive	Photophobia, Congenital stationary night blindness, Visual impairment, Color vision defect	OMIM:610427
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Sparse hair, Cryptorchidism, Fine hair	ORPHA:1174
Leukocyte Adhesion Deficiency, Type I	Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections, Chronic mucocu...	OMIM:116920
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated...	OMIM:615158
Radio-Tartaglia Syndrome	Synophrys, Low anterior hairline, Abnormal repetitive mannerisms, Highly arched eyebrow, Small na...	OMIM:619312
Migraine, Familial Hemiplegic, 3	Photophobia, Blindness, Phonophobia	OMIM:609634
Optic Atrophy 12	Photophobia, Dyschromatopsia, Abnormal Ishihara plate test, Reduced visual acuity	OMIM:618977
Immunodeficiency 31B	Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections	OMIM:613796
Neuropathy, Hereditary Sensory And Autonomic, Type Iib	Episodic hyperhidrosis, Acral ulceration	OMIM:613115
Chronic Mucocutaneous Candidiasis	Recurrent respiratory infections, Recurrent urinary tract infections, Abnormal fingernail morphol...	ORPHA:1334
Cone-Rod Dystrophy 24	Pericentral scotoma, Myopia, Scotoma, Nyctalopia, Reduced visual acuity, Photophobia, Color visio...	OMIM:620342
Trichothiodystrophy 8, Nonphotosensitive	Eczema, Sparse eyebrow, Cutis laxa, Sparse hair, Woolly hair, Trichorrhexis nodosa	OMIM:619691
Reticulate Acropigmentation Of Kitamura	Hyperkeratosis	OMIM:615537
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dysplasia, Erysipelas	OMIM:615704
Craniofaciofrontodigital Syndrome	Epicanthus, Prominent superficial veins, Thick hair, Low anterior hairline, Cutis laxa, Lower eye...	ORPHA:363705
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Panniculitis, Erythematous plaque, Erythematous papule, Skin ulcer	ORPHA:86884
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Neonatal sepsis, Alopecia, Psoriasiform lesion, Recurrent viral infections, Recurrent upper respi...	ORPHA:169154
Dermatoleukodystrophy	Premature skin wrinkling, Progeroid facial appearance	OMIM:221790
Arthrogryposis And Ectodermal Dysplasia	Absent eyebrow, Entropion, Trichiasis, Narrow palpebral fissure, Ectodermal dysplasia, Hyperkerat...	OMIM:601701
Focal Palmoplantar And Gingival Keratoderma	Subungual hyperkeratosis, Abnormal fingernail morphology, Focal friction-related palmoplantar hyp...	ORPHA:2200
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Alopecia, Recurrent pneumonia, Sepsis, Hypopigmented skin ...	ORPHA:47
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair, Ptosis	ORPHA:1067
Epidermolytic Hyperkeratosis 2	Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato...	OMIM:620150
Naxos Disease	Sparse scalp hair, Curly hair, Abnormality of hair texture, Hyperhidrosis, Palmoplantar keratoder...	ORPHA:34217
Darier Disease	Acrokeratosis, Abnormal hair morphology, Thickened skin, Palmoplantar keratoderma, Skin vesicle, ...	ORPHA:218
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of hair, Polyphagia, Hypogonadotropic hypogonadism	ORPHA:177910
Ichthyosis Prematurity Syndrome	Epidermal acanthosis, Allergic rhinitis, Polyhydramnios, Pruritus, Generalized ichthyosis, Follic...	OMIM:608649
Achromatopsia 7	Photophobia, Central scotoma, Achromatopsia, Reduced visual acuity	OMIM:616517
Bazex-Dupré-Christol Syndrome	Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor...	ORPHA:113
Myoclonic-Astatic Epilepsy	Premature skin wrinkling, Frontal balding	ORPHA:1942
Ichthyosis, Congenital, Autosomal Recessive 10	Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General...	OMIM:615024
Carvajal Syndrome	Woolly hair, Patchy palmoplantar hyperkeratosis	ORPHA:65282
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Epicanthus, Supernumerary nipple, Abnormal eyelid morphology, Cryptorchidism, Fine hair, Aplastic...	ORPHA:1812
Heyn-Sproul-Jackson Syndrome	Sparse hair, Epicanthus	OMIM:618724
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Highly arched eyebrow, Cryptorchidism, Low anterior hairline, Hirsutism, Woolly hair, Dry skin, B...	OMIM:619244
Achromatopsia 4	Photophobia, Achromatopsia, Visual impairment	OMIM:613856
Isolated Growth Hormone Deficiency, Type Ia	Hypoglycemia, Prolonged neonatal jaundice	OMIM:262400
Cone-Rod Dystrophy 5	Photophobia, Central scotoma, Reduced visual acuity, Color vision defect	OMIM:600977
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Lipod...	OMIM:612526
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Agel Amyloidosis	Pruritus, Bilateral ptosis, Dry skin, Cutis laxa, Keratoconjunctivitis sicca, Blepharochalasis, N...	ORPHA:85448
Woolly Hair, Autosomal Dominant	Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Palmoplant...	OMIM:194300
Leber Congenital Amaurosis 16	Nyctalopia, Reduced visual acuity, Visual field defect, Photophobia, Visual impairment	OMIM:614186
Congenital Disorder Of Glycosylation, Type If	Renal cortical cysts, Hyperkeratosis, Scaling skin, Erythroderma, Dry skin	OMIM:609180
Tangier Disease	Cicatricial ectropion, Nail dystrophy, Nail dysplasia, Dry skin, Ectropion	OMIM:205400
Cardiofaciocutaneous Syndrome	Brittle hair, Redundant skin, Lymphedema, Sparse hair, Dystrophic fingernails, Abnormal eyelash m...	ORPHA:1340
Prolactinoma	Bitemporal hemianopia, Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in m...	ORPHA:2965
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation	Alopecia, Ectropion	OMIM:242510
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Increased circulating free fatty acid level, Large for gestational age, ...	ORPHA:293964
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Myopia, Alopecia, Short stature, Photophobia, Ichthyosis, Palmoplantar keratoderma, Erythroderma,...	OMIM:242150
Chromosome 19Q13.11 Deletion Syndrome, Distal	Reduced subcutaneous adipose tissue, Sparse eyelashes, Blepharophimosis, Sparse eyebrow, Cryptorc...	OMIM:613026
Chilblain Lupus	Erythematous papule, Skin ulcer	ORPHA:90280
Oculocutaneous Albinism Type 1	White eyelashes, White eyebrow, Amblyopia, Thickened skin, Reduced visual acuity, Photophobia, Ge...	ORPHA:352731
Cone Dystrophy 3	Photophobia, Reduced visual acuity, Progressive visual loss	OMIM:602093
Barber-Say Syndrome	Dermal translucency, Telecanthus, Absent nipple, Sparse eyelashes, Redundant skin, Sparse eyebrow...	OMIM:209885
Noonan Syndrome 14	Curly hair, Epicanthus, Lacrimal duct stenosis, Sparse eyebrow, Cryptorchidism, Low posterior hai...	OMIM:619745
Lipodystrophy, Familial Partial, Type 3	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer...	OMIM:604367
Riddle Syndrome	Dry skin	OMIM:611943
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Alopecia, Telecanthus	OMIM:203550
Gand Syndrome	Blepharophimosis, Narrow palpebral fissure, Sparse hair	OMIM:615074
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Recurrent infections, Recurrent pneumonia, Pyoderma gangrenosum, Chronic oral candidiasis	OMIM:150550
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi...	ORPHA:411593
Neonatal Inflammatory Skin And Bowel Disease	Recurrent bacterial skin infections, Erythema, Horizontal eyebrow, Scaling skin, Recurrent gastro...	ORPHA:294023
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric...	OMIM:225060
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Plantar telangiectasia, Absent eyebrow, Alopecia, Sparse scalp hair, Palpebral edema, Cutis marmo...	ORPHA:69735
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Onychauxis, Long penis, Acanthosis nigricans, Dry skin, Hypertrichosis	OMIM:262190
Hypotonia-Cystinuria Syndrome	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Long eyela...	OMIM:606407
Squalene Synthase Deficiency	Epicanthus, Bilateral cryptorchidism, Abnormality of hair pigmentation, Cutaneous photosensitivit...	OMIM:618156
Schaaf-Yang Syndrome	Thick eyebrow, Impulsivity, Cryptorchidism, Flexion contracture, Hypogonadism, Skin-picking, Camp...	OMIM:615547
Cebalid Syndrome	Congenital diaphragmatic hernia, Highly arched eyebrow, Polyphagia, Downslanted palpebral fissure...	OMIM:618774
Optic Atrophy 6	Photophobia, Red-green dyschromatopsia, Visual impairment	OMIM:258500
Albinism, Oculocutaneous, Type Vii	Photophobia, High hypermetropia, Reduced visual acuity, Albinism	OMIM:615179
Dermatoosteolysis, Kirghizian Type	Aplasia/Hypoplasia of the skin, Skin ulcer, Dystrophic fingernails, Abnormality of the nail, Dyst...	ORPHA:1657
Temple Syndrome	Decreased response to growth hormone stimulation test, Precocious puberty, Cryptorchidism, Recurr...	ORPHA:254516
Hypotrichosis 12	Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho...	OMIM:615885
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities	Photophobia, Central scotoma, Nyctalopia, Reduced visual acuity	OMIM:616079
Chromomycosis	Predominantly lower limb lymphedema, Edema, Lymphedema, Keratitis, Pruritus, Hyperparakeratosis, ...	ORPHA:182
Congenital Panfollicular Nevus	Pruritus, Hyperkeratosis	ORPHA:139414
Nephronophthisis-Like Nephropathy 2	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Bronchiectasis, Periglomerular fib...	OMIM:619468
Acute Generalized Exanthematous Pustulosis	Predominantly dermal neutrophilic infiltrate, Renal insufficiency, Acantholysis, Pustule, Facial ...	ORPHA:293173
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Reduced subcutaneous adipose tissue, Absent eyebrow, Epicanthus, Alopecia, Sparse eyelashes, Palp...	OMIM:137940
Trisomy 18P	Telecanthus, Highly arched eyebrow, Bilateral cryptorchidism, Upslanted palpebral fissure, Attent...	ORPHA:1715
Cone-Rod Dystrophy 17	Photophobia, Central scotoma, Visual impairment	OMIM:615163
Intermediate Generalized Junctional Epidermolysis Bullosa	Scarring alopecia of scalp, Palmoplantar keratoderma, Nail dystrophy, Anonychia, Sparse body hair	ORPHA:79402
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hypopigmentation of hair, Hyperactivity, Polyphagia, Inappropriate laughter	ORPHA:411515
Hereditary Mucoepithelial Dysplasia	Alopecia, Fine hair, Photophobia, Hyperkeratosis, Sparse hair	ORPHA:1839
Asherman Syndrome	Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S...	ORPHA:137686
Hydroa Vacciniforme	Superficial dermal perivascular inflammatory infiltrate, Eczema, Reduced visual acuity, Photophob...	ORPHA:330058
Pick Disease Of Brain	Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition	OMIM:172700
Attenuated Chédiak-Higashi Syndrome	Recurrent respiratory infections, Skin ulcer	ORPHA:352723
Cone Rod Dystrophy	Photophobia, Nyctalopia, Visual impairment, Color vision defect	ORPHA:1872
Cd8 Deficiency, Familial	Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections	OMIM:608957
Limited Cutaneous Systemic Sclerosis	Hypopigmented skin patches, Skin ulcer	ORPHA:220402
Prolidase Deficiency	Recurrent pneumonia, Skin ulcer, Low posterior hairline, Recurrent infections, Facial hirsutism, ...	OMIM:170100
Cutis Laxa, Autosomal Dominant 2	Premature skin wrinkling, Cutis laxa	OMIM:614434
Cardiofaciocutaneous Syndrome 2	Absent eyebrow, Curly hair, Fine hair, Sparse hair, Ptosis	OMIM:615278
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Ichthyosis follicularis, Scaling skin, Atrichia, Periungual erythema, Dystrophic fingernails, Abs...	OMIM:308205
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Melanonychia, Epicanthus, Abnormal nasolacrimal system morphology, Edema, Abnormal eyelid morphol...	ORPHA:2526
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Hypoglycemia	OMIM:223500
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	Anhidrosis, Skin ulcer	OMIM:613640
Macular Dystrophy, Patterned, 1	Photophobia, Nyctalopia, Metamorphopsia, Reduced visual acuity	OMIM:169150
Cutis Laxa, Autosomal Recessive, Type Iiib	Prominent superficial veins, Cryptorchidism, Fine hair, Cutis laxa, Narrow palpebral fissure, Exc...	OMIM:614438
Leber Congenital Amaurosis 1	Blindness, Nyctalopia, Reduced visual acuity, Photophobia, Growth delay, Eye poking	OMIM:204000
Combined Oxidative Phosphorylation Deficiency 36	Upslanted palpebral fissure, Premature skin wrinkling	OMIM:617950
Autosomal Dominant Hyper-Ige Syndrome	Recurrent respiratory infections, Abnormal hair morphology, Paronychia, Skin ulcer, Recurrent inf...	ORPHA:2314
Fibrodysplasia Ossificans Progressiva	Alopecia	ORPHA:337
Trichodental Dysplasia	Sparse hair, Brittle hair, Slow-growing hair, Fine hair	OMIM:601453
Man1B1-Cdg	Epicanthus, Long eyebrows, Sparse eyebrow, Abnormal position of hair whorl, Long eyelashes, Downs...	ORPHA:397941
Hyperkeratosis-Hyperpigmentation Syndrome	Hyperkeratosis	ORPHA:1336
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Dry skin, Follicular hyperkeratosis	OMIM:617066
Ablepharon-Macrostomia Syndrome	Absent eyebrow, Ablepharon, Hypoplasia of eyelid, Redundant skin, Absent eyelashes, Hypoplastic n...	OMIM:200110
Retinal Cone Dystrophy 3B	Myopia, Scotoma, Nyctalopia, Reduced visual acuity, Photophobia	OMIM:610356
Porokeratosis 7, Multiple Types	Parakeratosis, Porokeratosis	OMIM:614714
Porokeratosis 1, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175800
Progressive Cone Dystrophy	Photophobia, Visual impairment, Color vision defect	ORPHA:1871
Björnstad Syndrome	Alopecia, Brittle hair	ORPHA:123
Koolen-De Vries Syndrome	Ureteral duplication, Hypopigmentation of hair, Epicanthus, Renal duplication, Hypospadias, Overf...	ORPHA:96169
Hypotrichosis 13	Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology	OMIM:615896
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Alopecia, Aplasia/Hypoplasia of the skin, Hyperconvex fingernails, Dermal atrophy, Skin vesicle, ...	ORPHA:257
Immunodeficiency 58	Recurrent cutaneous abscess formation, Molluscum contagiosum, Psoriasiform lesion, Eczema, Allerg...	OMIM:618131
Ollier Disease	Subcutaneous nodule, Skin ulcer	ORPHA:296
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Ridged nail, Alopecia, Yellow nails, Telangiectasia, Livedo, Onycholysis, Nail dystrophy, Facial ...	OMIM:614564
Eec Syndrome	Decreased response to growth hormone stimulation test, Xerostomia, Urethral atresia, Coarse hair,...	ORPHA:1896
Night Blindness, Congenital Stationary, Type 1H	Hypermetropia, Photophobia, Nyctalopia, Mild myopia	OMIM:617024
Retinitis Pigmentosa	Blindness, Photophobia, Hypogonadism, Progressive night blindness, Abnormal testis morphology, Vi...	ORPHA:791
Cone-Rod Dystrophy 15	Constriction of peripheral visual field, Nyctalopia, Photophobia, Progressive visual loss, Color ...	OMIM:613660
Uncombable Hair Syndrome 3	Uncombable hair, Curly hair, Brittle hair, Pili canaliculi	OMIM:617252
Hyperinsulinemic Hypoglycemia, Familial, 5	Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy...	OMIM:609968
Erythrokeratoderma ''En Cocardes''	Hyperkeratosis	ORPHA:315
Pyoderma Gangrenosum	Skin vesicle, Atrophic scars, Papule, Skin ulcer	ORPHA:48104
Blue Cone Monochromatism	Blue cone monochromacy, Photophobia, Visual impairment	ORPHA:16
Familial Benign Chronic Pemphigus	Skin vesicle, Hyperkeratosis, Erythema, Acantholysis	ORPHA:2841
Hypertriglyceridemia 1	Glucose intolerance, Hypertriglyceridemia	OMIM:145750
Retinal Cone Dystrophy 1	Photophobia, Progressive visual loss, Color vision defect	OMIM:180020
Leber Congenital Amaurosis 14	Photophobia, Congenital blindness, Nyctalopia, Reduced visual acuity	OMIM:613341
Bjornstad Syndrome	Anhidrosis, Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular int...	OMIM:262000
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Brittle hair, Hyperkeratosis, Coarse hair, Sparse hair, Hidrotic ectodermal dysplasia	ORPHA:1883
Achromatopsia 3	Moderately reduced visual acuity, Monochromacy, High myopia, Photophobia, Dyschromatopsia, Severe...	OMIM:262300
Nicolaides-Baraitser Syndrome	Absent eyebrow, Dry hair, Sparse scalp hair, Eczema, Cryptorchidism, Low anterior hairline, Low p...	OMIM:601358
Leber Congenital Amaurosis 2	Blindness, Nyctalopia, Reduced visual acuity, Photophobia, Eye poking	OMIM:204100
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Upslanted palpebral fissure, Alopecia, Epicanthus, Brittle hair	ORPHA:50812
Cone-Rod Dystrophy 21	Photophobia, Nyctalopia, Reduced visual acuity	OMIM:616502
Xq27.3Q28 Duplication Syndrome	Decreased testicular size, Cryptorchidism, Sparse body hair	ORPHA:261483
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Epicanthus, Sparse eyebrow, Sparse hair, Downslanted palpebral fissures, Ptosis	OMIM:619989
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Alopecia, Hypertriglyceridemia, Lipoatrophy, Increa...	ORPHA:2457
Fructose And Galactose Intolerance	Hypoglycemia	OMIM:229500
Cone-Rod Dystrophy And Hearing Loss 2	Photophobia, Reduced visual acuity	OMIM:618358
Grubben-De Cock-Borghgraef Syndrome	Dry skin	ORPHA:2101
Non-Functioning Pituitary Adenoma	Bitemporal hemianopia, Decreased response to growth hormone stimulation test, Reduced circulating...	ORPHA:91349
Bradyopsia	Photophobia, Visual impairment	ORPHA:75374
Erythrokeratodermia Variabilis Et Progressiva 1	Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Epidermal acanth...	OMIM:133200
Blepharocheilodontic Syndrome 1	Lagophthalmos, Ectropion of lower eyelids, Euryblepharon, Small nail, Nail dysplasia, Sparse hair...	OMIM:119580
Familial Cold Urticaria	Pruritus, Erythema, Dehydration, Hyperhidrosis, Arthritis, Conjunctivitis, Polydipsia	ORPHA:47045
Polyendocrine-Polyneuropathy Syndrome	Alopecia, Hypoinsulinemia, Hypoglycemia, Anterior pituitary hypoplasia, Hypogonadotropic hypogona...	ORPHA:453533
Bazex-Dupre-Christol Syndrome	Eczema, Atopic dermatitis, Coarse hair, Sparse hair, Trichoepithelioma, Acne inversa, Pili torti,...	OMIM:301845
Retinitis Pigmentosa 17	Photophobia, Nyctalopia, Color vision defect	OMIM:600852
Renal Glucosuria	Polydipsia, Polyphagia, Glycosuria	OMIM:233100
Hawkinsinuria	Sparse hair, Fine hair	ORPHA:2118
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Trichothiodystrophy 5, Nonphotosensitive	Brittle hair, Slow-growing hair, Cutis marmorata, Progeroid facial appearance, Sparse eyebrow, Re...	OMIM:300953
Ablepharon Macrostomia Syndrome	Absent eyebrow, Ablepharon, Redundant skin, Abnormal hair pattern, Absent eyelashes, Breast hypop...	ORPHA:920
Ifap Syndrome 2	Posterior blepharitis, Keratoconjunctivitis sicca, Nail dystrophy, Atrichia, Perioral erythema, S...	OMIM:619016
Familial Multiple Nevi Flammei	Nevus flammeus, Papule, Hypermelanotic macule, Skin ulcer	ORPHA:624
Morm Syndrome	Photophobia, Progressive night blindness, Visual impairment	ORPHA:75858
Acquired Purpura Fulminans	Macule, Erythematous macule, Pyoderma gangrenosum, Sepsis, Macular purpura	ORPHA:49566
Retinitis Pigmentosa 3	Constriction of peripheral visual field, Ring scotoma, Nyctalopia, Reduced visual acuity, High my...	OMIM:300029
Leber Congenital Amaurosis With Early-Onset Deafness	Photophobia, High hypermetropia, Reduced visual acuity	OMIM:617879
Cranioectodermal Dysplasia 3	Telecanthus, Short nail, Broad nail, Fine hair, Cutis laxa, Ectodermal dysplasia, Sparse hair, Dr...	OMIM:614099
Hermansky-Pudlak Syndrome 11	Albinism, Reduced visual acuity, Photophobia, Menorrhagia, Fair hair	OMIM:619172
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Sparse scalp hair, Epicanthus, Telecanthus, Sparse eyelashes, Progeroid facial appearance, Sparse...	ORPHA:75496
Alopecia Antibody Deficiency	Abnormal eyelash morphology, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse body hair	ORPHA:1006
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyebrow, Absent eyelashes, Premature graying of hair, Sparse hair, Premature skin wrinklin...	ORPHA:363618
Ichthyosis, Congenital, Autosomal Recessive 7	Palmoplantar keratoderma, Epidermal acanthosis, Hypergranulosis, Ichthyosis	OMIM:615022
Alopecia-Intellectual Disability Syndrome 4	Bilateral cryptorchidism, Ichthyosis, Alopecia, Erythroderma	OMIM:618840
Alstrom Syndrome	Alopecia, Constriction of peripheral visual field, Blindness, Hypergonadotropic hypogonadism, Dec...	OMIM:203800
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia, Lipodystrophy, Lipoatrophy, Insulin-resistant diabetes mellitus, Insulin re...	OMIM:613877
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Hyperlipidemia, Por...	ORPHA:369
Lipodystrophy, Congenital Generalized, Type 1	Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Reduced intraabdominal ...	OMIM:608594
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Cryptorchidism, Dry skin, Follicular hyperkeratosis	ORPHA:486815
Dystrophic Epidermolysis Bullosa Pruriginosa	Pruritus, Hyperkeratosis, Abnormal toenail morphology, Nail dystrophy	ORPHA:89843
Leishmaniasis	Papule, Pallor, Skin ulcer, Skin plaque	ORPHA:507
Limb-Mammary Syndrome	Absent lacrimal punctum, Alopecia, Absent nipple, Chronic irritative conjunctivitis, Psoriasiform...	ORPHA:69085
Lichen Planus Pemphigoides	Skin vesicle, Hyperkeratosis, Abnormality of the nail	ORPHA:254478
Corneal Hypesthesia With Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, And Mental Retardation	Broad eyebrow, Short stature, Abnormal hair morphology, Reduced visual acuity, Visual impairment	OMIM:122430
Atopic Keratoconjunctivitis	Abnormal eyelid morphology, Loss of eyelashes, Keratoconjunctivitis sicca, Chemosis, Dry skin, Bl...	ORPHA:163934
Infantile Myofibromatosis	Abnormal hair morphology, Subcutaneous nodule, Neoplasm of the pancreas, Skin ulcer	ORPHA:2591
Retinal Cone Dystrophy 4	Photophobia, Constriction of peripheral visual field, Reduced visual acuity, Visual impairment	OMIM:610478
Idiopathic Trachyonychia	Ridged nail, Thin nail, Concave nail, Atopic dermatitis, Nail pits, Patchy alopecia, Nail dystrop...	ORPHA:79153
Free Sialic Acid Storage Disease	Recurrent respiratory infections, Skin ulcer	ORPHA:834
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Epicanthus, Parakeratosis, Epidermal acanthosis, Superficial dermal perivascular inflammatory inf...	ORPHA:83617
Microcephalic Primordial Dwarfism, Montreal Type	Ptosis, Cryptorchidism, Premature graying of hair, Alopecia of scalp, Excessive wrinkling of palm...	OMIM:210700
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy...	OMIM:306000
Oculocutaneous Albinism Type 4	Hypopigmentation of hair, Albinism, Thickened skin, White hair, Reduced visual acuity, Photophobia	ORPHA:79435
Oculocerebrocutaneous Syndrome	Alopecia, Cryptorchidism, Eyelid coloboma, Orbital cyst	OMIM:164180
Cone-Rod Dystrophy 22	Photophobia, Reduced visual acuity	OMIM:619531
Trichothiodystrophy 2, Photosensitive	Coarse hair, Tiger tail banding, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis	OMIM:616390
Neonatal Lupus Erythematosus	Parakeratosis, Skin rash, Maculopapular exanthema, Hyperkeratosis, Malar rash	ORPHA:398124
Cone-Rod Dystrophy 16	Photophobia, Nyctalopia, Reduced visual acuity, Progressive visual loss	OMIM:614500
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H...	OMIM:620211
Diarrhea 13	Elevated hepatic transaminase, Recurrent hypoglycemia, Failure to thrive, Hepatic steatosis	OMIM:620357
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Recurrent bacterial skin infections, Blindness, Sparse eyelashes, Trichiasis, Sparse eyebrow, Abs...	OMIM:148210
Hypomelanosis Of Ito	Alopecia, Epicanthus	OMIM:300337
Epidermolysis Bullosa, Junctional 1A, Intermediate	Plantar hyperkeratosis, Patchy alopecia, Nail dystrophy, Fragile nails	OMIM:226650
Irida Syndrome	Hyperkeratosis, Pallor, Ichthyosis	ORPHA:209981
Immunodeficiency, Common Variable, 4	Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis	OMIM:613494
Cone-Rod Dystrophy, X-Linked, 3	Myopia, Central scotoma, Reduced visual acuity, Photophobia, Visual impairment, Color vision defect	OMIM:300476
Usher Syndrome, Type Iiib	Photophobia, Visual impairment	OMIM:614504
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi...	OMIM:613027
Hyperinsulinemic Hypoglycemia, Familial, 3	Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:602485
Pigmented Nodular Adrenocortical Disease, Primary, 4	Alopecia, Adrenal hyperplasia, Acne, Dorsocervical fat pad, Bruising susceptibility, Fragile skin...	OMIM:615830
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Nasolacrimal duct obstruction, Ectodermal dysplasia, Hypoplastic nipples, Small nail, Sparse hair	OMIM:273400
Spinocerebellar Ataxia Type 34	Dry skin	ORPHA:1955
Neonatal Hemochromatosis	Congenital hepatic fibrosis, Hypoglycemia, Prolonged neonatal jaundice	ORPHA:446
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia	OMIM:613886
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a...	ORPHA:98793
Localized Junctional Epidermolysis Bullosa	Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atrophic, patchy alopecia, A...	ORPHA:251393
Mpdu1-Cdg	Eczema, Decreased response to growth hormone stimulation test, Renal cortical cysts, Scaling skin...	ORPHA:79323
Noonan Syndrome 8	Curly hair, Epicanthus, Eczema, Polyhydramnios, Cryptorchidism, Hyperkeratosis, Palmoplantar cuti...	OMIM:615355
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Tegumentary leishmaniasis susceptibility, Recurrent mycobacterial infections, BCGosis, Coccidioid...	ORPHA:319552
Frontotemporal Dementia	Polyphagia, Disinhibition, Inappropriate laughter	OMIM:600274
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a...	ORPHA:177904
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a...	ORPHA:98754
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Recurrent loss of toenails and fingernails, Erythema, Crusting erythematous dermatitis, Palmoplan...	ORPHA:158673
Complement Component 3 Deficiency, Autosomal Recessive	Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis	OMIM:613779
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Low anterior hairline, Horizontal eyebrow, High anterior hairline, Dry skin, Thick eyebrow	OMIM:618797
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormal eyebrow morphology, Alopecia, Prematurely aged appearance, Progeroid facial appearance, ...	ORPHA:90153
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Perianal erythema, Paronychia, Alopecia of scalp, Perioral erythema, Dry skin, Decreased testicul...	OMIM:201100
Inflammatory Skin And Bowel Disease, Neonatal, 2	Epidermal acanthosis, Recurrent pneumonia, Long eyelashes, Recurrent bronchiolitis, Papule	OMIM:616069
Kleine-Levin Hibernation Syndrome	Polyphagia	OMIM:148840
Kleine-Levin Syndrome	Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio...	ORPHA:33543
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a...	ORPHA:177901
Agammaglobulinemia 2, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, Recurrent ...	OMIM:613500
Senior-Loken Syndrome 4	Polydipsia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis	OMIM:606996
Congenital Disorder Of Glycosylation, Type Iil	Epicanthus, Unilateral renal agenesis, Hypohidrosis, Hyperkeratosis, Inflammation of the large in...	OMIM:614576
Retinitis Pigmentosa 79	Photophobia, Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity	OMIM:617460
Polyarteritis Nodosa	Subcutaneous nodule, Erythema, Skin ulcer	ORPHA:767
X-Linked Hypohidrotic Ectodermal Dysplasia	Sparse hair, Anterior hypopituitarism, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:181
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Acanthosis nigricans, Dry skin	ORPHA:3085
Xeroderma Pigmentosum	Conjunctival telangiectasia, Alopecia, Entropion, Telangiectasia of the skin, Cryptorchidism, Ery...	ORPHA:910
Huntington Disease	Aggressive behavior, Oral-pharyngeal dysphagia, Addictive alcohol use, Agitation, Compulsive beha...	ORPHA:399
Bietti Crystalline Dystrophy	Blindness, Constriction of peripheral visual field, Large central visual field defect, Central sc...	ORPHA:41751
Microphthalmia, Isolated 5	Photophobia, High hypermetropia, Nyctalopia, Reduced visual acuity	OMIM:611040
Cutis Laxa, Autosomal Recessive, Type Iia	Brittle hair, Redundant skin, Abnormality of hair texture, Cutis laxa, Excessive wrinkled skin, C...	OMIM:219200
Cardiofaciocutaneous Syndrome 4	Absent eyebrow, Curly hair, Epicanthus, Sparse eyelashes, Decreased response to growth hormone st...	OMIM:615280
Scalp-Ear-Nipple Syndrome	Epicanthus, Telecanthus, Palpebral edema, Renal insufficiency, Sparse axillary hair, Blepharophim...	OMIM:181270
Acquired Partial Lipodystrophy	Generalized hirsutism, Progeroid facial appearance	ORPHA:79087
Hemifacial Atrophy, Progressive	Blepharophimosis, Patchy alopecia, Horner syndrome, Poliosis	OMIM:141300
Autosomal Dominant Severe Congenital Neutropenia	Recurrent sinopulmonary infections, Recurrent ear infections, Recurrent viral infections, Pyoderm...	ORPHA:486
Menkes Disease	Sparse hair, Alopecia, Brittle hair, Cutis laxa	OMIM:309400
Juvenile Dermatomyositis	Alopecia, Palpebral edema, Skin rash, Telangiectasia of the skin, Pruritus, Erythema, Skin ulcer,...	ORPHA:93672
Intellectual Developmental Disorder, Autosomal Dominant 39	Polyphagia, Self-mutilation, Aggressive behavior	OMIM:616521
Beta-Thalassemia	Cholelithiasis, Pallor, Skin ulcer	ORPHA:848
Bardet-Biedl Syndrome 22	Hypogonadism, Polyphagia	OMIM:617119
Retinal Cone Dystrophy 3A	Nyctalopia, Reduced visual acuity, High myopia, Photophobia, Dyschromatopsia	OMIM:610024
Mohr-Tranebjaerg Syndrome	Myopia, Constriction of peripheral visual field, Cerebral visual impairment, Reduced visual acuit...	OMIM:304700
Dyskeratosis Congenita, Autosomal Dominant 3	Alopecia, Cryptorchidism, Fine hair, Premature graying of hair, Nail dysplasia, Dry skin	OMIM:613990
Retinitis Pigmentosa 32	Photophobia, Nyctalopia, Reduced visual acuity	OMIM:609913
Pachyonychia Congenita 2	Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Angular cheilitis, Sparse eyebrow, Palmopl...	OMIM:167210
Naxos Disease	Curly hair, Subungual hyperkeratosis, Epidermal acanthosis, Acantholysis, Sparse eyebrow, Diffuse...	OMIM:601214
Cone-Rod Dystrophy 11	Photophobia, Slow decrease in visual acuity	OMIM:610381
Epidermolysis Bullosa, Lethal Acantholytic	Alopecia totalis, Aplasia cutis congenita, Acantholysis, Absent fingernail, Skin erosion, Anonych...	OMIM:609638
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Sparse eyelashes, Sparse eyebrow, Hypohidrotic ectodermal dysplasia, Periorbital wrinkles, Sparse...	OMIM:224900
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Recurrent loss of toenails and fingernails, Nail dystrophy, Skin ulcer	OMIM:245660
Bleeding Disorder, Platelet-Type, 21	Alopecia, Psoriasiform dermatitis, Eczema	OMIM:617443
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Low anterior hairline, Hirsutism, Upper eyelid edema, Long eyelashes, Sparse hair, Thick eyebrow	OMIM:616819
Takayasu Arteritis	Subcutaneous nodule, Skin ulcer, Hyperhidrosis	ORPHA:3287
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Alopecia, Adrenal hyperplasia, Abnormal fingernail morphology, Chronic mucocu...	ORPHA:3453
Helix Syndrome	Anhidrosis, Renal insufficiency, Hyperparathyroidism, Polyuria, Xerostomia, Nephrolithiasis, Hypo...	OMIM:617671
Meige Disease	Recurrent bacterial skin infections, Skin ulcer, Atypical scarring of skin, Skin dimple, Skin ero...	ORPHA:90186
Intellectual Developmental Disorder, Autosomal Recessive 5	Telecanthus, Eczema, Synophrys, Sparse hair, Blepharophimosis, Thick eyebrow	OMIM:611091
Myoectodermal Gonadal Dysgenesis Syndrome	Epicanthus, Highly arched eyebrow, Elevated circulating luteinizing hormone level, Sparse eyebrow...	OMIM:618419
Luscan-Lumish Syndrome	Aggressive behavior, Polycystic ovaries, Downslanted palpebral fissures, High anterior hairline, ...	OMIM:616831
Immunodeficiency With Hyper-Igm, Type 2	Recurrent respiratory infections, Recurrent upper and lower respiratory tract infections, Recurre...	OMIM:605258
Lipodystrophy, Congenital Generalized, Type 2	Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Reduced intraabdominal ...	OMIM:269700
Mental Retardation With Optic Atrophy, Deafness, And Seizures	Blindness, Severely reduced visual acuity	OMIM:309555
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia, Streak ovary	OMIM:241090
Systemic Lupus Erythematosus 17	Alopecia, Malar rash	OMIM:301080
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Skin ulcer, Hyperkeratosis, Interstitial pneumonitis, Scali...	ORPHA:454831
Noonan Syndrome 6	Curly hair, Epicanthus, Long eyebrows, Bilateral ptosis, Cryptorchidism, Low posterior hairline, ...	OMIM:613224
Glycosylphosphatidylinositol Biosynthesis Defect 25	Sparse hair, Coarse hair	OMIM:619985
Dyskeratosis Congenita	Macule, Abnormal eyebrow morphology, Alopecia, Aplasia/Hypoplasia of the skin, Abnormal fingernai...	ORPHA:1775
Singleton-Merten Syndrome 2	Hyperkeratosis, Psoriasiform lesion	OMIM:616298
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Jaundice, Sparse...	ORPHA:59303
Chronic Granulomatous Disease	Macule, Recurrent respiratory infections, Hypermelanotic macule, Sepsis, Skin ulcer, Meningitis	ORPHA:379
Tylosis With Esophageal Cancer	Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis	OMIM:148500
Chromosome 22Q13 Duplication Syndrome	Impulsivity, Upslanted palpebral fissure, Attention deficit hyperactivity disorder, Epicanthus in...	OMIM:615538
Transaldolase Deficiency	Premature skin wrinkling, Telangiectasia	ORPHA:101028
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelid morphology, Thickened skin...	ORPHA:2221
Gyrate Atrophy Of Choroid And Retina	Myopia, Blindness, Constriction of peripheral visual field, Abnormal hair morphology, Progressive...	ORPHA:414
Atelis Syndrome 1	Eczema, Bronchiectasis, Attention deficit hyperactivity disorder, Dry skin, Downslanted palpebral...	OMIM:620184
Immunodeficiency 61	Recurrent respiratory infections, Frequent Giardia lamblia infestation, Recurrent bacterial infec...	OMIM:300310
Hypothyroidism, Congenital, Nongoitrous, 4	Dry skin	OMIM:275100
Choroidal Dystrophy, Central Areolar 2	Photophobia	OMIM:613105
Sjogren-Larsson Syndrome	Short stature, Reduced visual acuity, Photophobia, Ichthyosis, Color vision defect	OMIM:270200
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp...	ORPHA:79299
Leukodystrophy, Hypomyelinating, 14	Growth delay, Blindness	OMIM:617899
Autoinflammation With Arthritis And Dyskeratosis	Epidermal acanthosis, Thyroiditis, Palmoplantar hyperkeratosis, Uveitis, Keratoconjunctivitis sic...	OMIM:617388
Satoyoshi Syndrome	Alopecia, Short stature, Alopecia universalis, Amenorrhea	OMIM:600705
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Congenital abnormal hair pattern, Cryptorchidism, Nail dystrophy, Atrichia, Acrocyanosi...	ORPHA:1867
Ectodermal Dysplasia And Immunodeficiency 2	Sparse scalp hair, Anhidrotic ectodermal dysplasia, Aplasia of the sweat glands, Sparse hair, Dry...	OMIM:612132
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Alopecia, Highly arched eyebrow, Synophrys, Palmoplantar hyperkeratosis, Dystrophic fingernails, ...	ORPHA:3253
Cronkhite-Canada Syndrome	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Dystrophic toenail, Patchy alopec...	ORPHA:2930
Thyroid Dyshormonogenesis 1	Dry skin	OMIM:274400
Eem Syndrome	Absent eyebrow, Sparse scalp hair, Sparse body hair	ORPHA:1897
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Cryptorchidism, Primary a...	OMIM:146110
Sim1-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Premature pubarche, Hypogonadotropic hypogonadism, Almond-shaped palpeb...	ORPHA:398079
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Nyctalopia, Reduced visual acuity, Follicular hyperkeratosis, Tritanomaly, Comedonal acne, Visual...	OMIM:615147
X-Linked Acrogigantism	Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Diabetes insipidus, Elevat...	ORPHA:300373
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Episodic hyperhidrosis, Paronychia, Anhidrosis, Acral ulceration	OMIM:201300
Scarf Syndrome	Epicanthus, Cryptorchidism, Low posterior hairline, Cutis laxa, Hypoplastic nipples, Webbed neck,...	ORPHA:3134
Leber Congenital Amaurosis 6	Photophobia, High hypermetropia, Severely reduced visual acuity	OMIM:613826
Alpha-Heavy Chain Disease	Alopecia	ORPHA:100025
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Sparse hair, Thin skin, Aplasia/Hypoplasia of the eyebrow	ORPHA:261304
Incontinentia Pigmenti	Ridged nail, Alopecia, Maculopapular exanthema, Supernumerary nipple, Erythema, Nail pits, Fine h...	OMIM:308300
Rhizomelic Chondrodysplasia Punctata, Type 1	Upslanted palpebral fissure, Alopecia	OMIM:215100
Leber Congenital Amaurosis 9	Ultra-low vision with retained light perception, Nyctalopia, Reduced visual acuity, Hypermetropia...	OMIM:608553
Hoyeraal-Hreidarsson Syndrome	Sparse scalp hair, Premature graying of hair, Excessive wrinkled skin, Nail dystrophy, Generalize...	ORPHA:3322
Ichthyosis, Congenital, Autosomal Recessive 3	Erythema, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythrode...	OMIM:606545
Epithelial Recurrent Erosion Dystrophy	Photophobia, Visual impairment	OMIM:122400
Peroxisome Biogenesis Disorder 14B	Dry skin	OMIM:614920
Mucoepithelial Dysplasia, Hereditary	Alopecia, Blindness, Chronic mucocutaneous candidiasis, Photophobia, Coarse hair, Nail dystrophy,...	OMIM:158310
Ataxia-Telangiectasia	Hypopigmentation of hair, Prematurely aged appearance, Telangiectasia of the skin, Polycystic ova...	ORPHA:100
Pachyonychia Congenita	Alopecia, Paronychia, Onychogryposis of toenails, Linear arrays of macular hyperkeratoses in flex...	ORPHA:2309
Hereditary Sensory And Autonomic Neuropathy Type 1	Penetrating foot ulcers, Skin ulcer	ORPHA:36386
Hypotrichosis-Intellectual Disability, Lopes Type	Sparse hair	ORPHA:2266
Immunodeficiency 110 With Lymphoproliferation	Recurrent viral infections, Recurrent upper respiratory tract infections, Recurrent pneumonia, Se...	OMIM:614868
Hypothyroidism, Congenital, Nongoitrous, 6	Dry skin	OMIM:614450
Leber Congenital Amaurosis 12	Congenital blindness	OMIM:610612
21Q22.11Q22.12 Microdeletion Syndrome	Hyperactivity, Almond-shaped palpebral fissure, Tongue thrusting, Bruxism, Self-injurious behavio...	ORPHA:261323
X-Linked Neurodegenerative Syndrome, Hamel Type	Blindness	ORPHA:85336
Lelis Syndrome	Yellow nails, Acanthosis nigricans, Absent lower eyelashes, Palmoplantar hyperkeratosis, Upslante...	ORPHA:140936
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Reduced subcutaneous adipose tissue, Alopecia, Small pituitary gland	OMIM:612079
Zinc Deficiency, Transient Neonatal	Alopecia, Eczema	OMIM:608118
Ectodermal Dysplasia/Short Stature Syndrome	Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Dysphagia, Anonychia	OMIM:616029
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Reactive hy...	OMIM:600955
Retinitis Pigmentosa 29	Blindness	OMIM:612165
Weaver Syndrome	Deep-set nails, Hypoplasia of penis, Abnormal fingernail morphology, Redundant skin, Thin nail, H...	ORPHA:3447
Diffuse Cutaneous Mastocytosis	Pruritus, Thickened skin, Scaling skin, Erythroderma, Peau d'orange	ORPHA:79456
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Invasive fungal infection, Recurrent mycobacterial infections, Severe viral infection, Chronic mu...	ORPHA:98813
Hypodontia-Dysplasia Of Nails Syndrome	Abnormal fingernail morphology, Hypoplastic toenails, Polycystic ovaries, Fine hair, Thin toenail...	ORPHA:2228
Restrictive Dermopathy	Ureteral duplication, Telecanthus, Entropion, Generalized hyperkeratosis, Short nail, Polyhydramn...	ORPHA:1662
Costello Syndrome	Deep-set nails, Epicanthus, Abnormal fingernail morphology, Redundant skin, Polyhydramnios, Conca...	ORPHA:3071
Short Syndrome	Sparse hair, Alopecia, Telecanthus, Excessive wrinkled skin	ORPHA:3163
Mody	Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Abnormal circulating i...	ORPHA:552
Ameloonychohypohidrotic Syndrome	Dry skin, Onycholysis	OMIM:104570
Sorsby Fundus Dystrophy	Blindness	OMIM:136900
Xeroderma Pigmentosum Variant	Dry skin	ORPHA:90342
Irvan Syndrome	Photophobia, Blurred vision, Reduced visual acuity, Vitreous floaters	ORPHA:209943
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Redundant neck skin, Thick hair, Redundant skin, Abnormal subcutaneous fat tissue distribution, P...	ORPHA:357074
Cerebral Sclerosis, Diffuse, Scholz Type	Blindness	OMIM:302700
Trichothiodystrophy	Ridged nail, Sparse scalp hair, Epicanthus, Brittle hair, Split nail, Congenital exfoliative eryt...	ORPHA:33364
Corneal Dystrophy, Meesmann, 1	Photophobia, Reduced visual acuity	OMIM:122100
Adult Polyglucosan Body Disease	Skin ulcer	ORPHA:206583
Agammaglobulinemia 3, Autosomal Recessive	Recurrent otitis media, Recurrent bacterial infections, Recurrent lower respiratory tract infecti...	OMIM:613501
Granulomatous disease with defect in neutrophil chemotaxis	Recurrent staphylococcal infections	OMIM:233670
Immunodeficiency, Common Variable, 3	Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Recurre...	OMIM:613493
Autoimmune Polyendocrinopathy Type 2	Hypoparathyroidism, Alopecia, Primary adrenal insufficiency, Hypopigmented skin patches, Graves d...	ORPHA:3143
Renpenning Syndrome	Abnormal hairshaft morphology, Alopecia, Epicanthus, Upslanted palpebral fissure, Thin eyebrow, D...	ORPHA:3242
Corneal Dystrophy, Fleck	Photophobia	OMIM:121850
Cog5-Cdg	Abnormality of the frontal hairline, Premature skin wrinkling, Cryptorchidism	ORPHA:263487
Koolen-De Vries Syndrome	Epicanthus, Recurrent urinary tract infections, Hyperactivity, Eczema, Impulsivity, Abnormality o...	OMIM:610443
Leukoencephalopathy With Vanishing White Matter 1	Blindness, Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea	OMIM:603896
Pediatric-Onset Graves Disease	Hyperactivity, Abnormal eyelid morphology, Puberty and gonadal disorders, Thyrotoxicosis with dif...	ORPHA:525731
Subacute Cutaneous Lupus Erythematosus	Psoriasiform lesion, Discoid lupus rash, Cheilitis, Hyperkeratosis, Malar rash	ORPHA:163525
Trichothiodystrophy 4, Nonphotosensitive	Epicanthus, Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Keratoconj...	OMIM:234050
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Lacrimal duct atresia...	OMIM:106260
Bardet-Biedl Syndrome 9	Polydipsia, Polyphagia, Hyperglycemia	OMIM:615986
Ceroid Lipofuscinosis, Neuronal, 7	Visual loss, Blindness	OMIM:610951
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Albinism, Thickened skin, Photophobia, Hyperkeratosis, Visual impairment	ORPHA:79431
9P13 Microdeletion Syndrome	Epicanthus, Hyperconvex nail, Highly arched eyebrow, Hypoplastic toenails, Attention deficit hype...	ORPHA:324313
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Brittle hair, Abnormality of the anterior pituitary, Upslanted palpebral fissure, Coars...	ORPHA:75389
Short Syndrome	Telecanthus, Prominent superficial veins, Ovarian cyst, Thin skin, Premature skin wrinkling	OMIM:269880
Congenital Short Bowel Syndrome	Sparse hair	ORPHA:2301
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Glucose intolerance, Hyperglycemia	OMIM:307500
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Alopecia, Epicanthus	ORPHA:88630
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hyperactivity, Hypertriglyceridemia, Reduced intraabdominal ...	ORPHA:363400
Immunodeficiency, Common Variable, 6	Recurrent respiratory infections, Recurrent bacterial infections, Purpura	OMIM:613496
Lessel-Kubisch Syndrome	Sparse pubic hair, Premature graying of hair	OMIM:618681
Bacterial Toxic-Shock Syndrome	Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin rash, Glomerulonephritis, Recurren...	ORPHA:36234
Rabson-Mendenhall Syndrome	Enlarged ovaries, Thick hair, Onychauxis, Long penis, Low anterior hairline, Premature graying of...	ORPHA:769
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Photophobia, Reduced visual acuity	OMIM:618970
Autosomal Recessive Cutis Laxa Type 2A	Excessive wrinkled skin, Downslanted palpebral fissures, Thick hair, Progeroid facial appearance	ORPHA:357058
Sabinas Brittle Hair Syndrome	Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:211390
Birdshot Chorioretinopathy	Arcuate scotoma, Blind-spot enlargment, Vitreous floaters, Visual loss, Photophobia, Blurred vision	ORPHA:179
Retinitis Pigmentosa 35	Blindness, Reduced visual acuity, Nyctalopia	OMIM:610282
Oligocone Trichromacy	Photophobia	ORPHA:75378
Episodic Ataxia Type 6	Photophobia, Diplopia, Reduced visual acuity, Phonophobia	ORPHA:209967
Hydrocephalus-Obesity-Hypogonadism Syndrome	Sparse facial hair, Absent facial hair, Low posterior hairline	ORPHA:2183
Magel2-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Premature pubarche, Impulsivity, Almond-shaped palpebral fissure, Crypt...	ORPHA:398069
Leber Congenital Amaurosis 7	Photophobia, Visual impairment	OMIM:613829
Immunodeficiency, Common Variable, 10	Trachyonychia, Frequent Giardia lamblia infestation, Recurrent oral herpes, Alopecia totalis, Dec...	OMIM:615577
Lipoid Proteinosis	Acne, Pustule, Thickened skin, Hyperkeratosis, Dysphagia, Alopecia of scalp	ORPHA:530
Retinitis Pigmentosa Inversa With Deafness	Blindness	OMIM:268010
Erythrokeratodermia Variabilis Et Progressiva 7	Woolly hair, Anhidrosis, Dystrophic toenail, Palmoplantar hyperkeratosis	OMIM:619209
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Insulin-resistant diabetes mellitus, Insulin r...	ORPHA:79085
Epidermodysplasia Verruciformis, Susceptibility To, 3	Palmar pits, Epidermal acanthosis	OMIM:618267
Sorsby Pseudoinflammatory Fundus Dystrophy	Blindness, Large central visual field defect, Visual loss, Nyctalopia, Severely reduced visual ac...	ORPHA:59181
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Progeroid facial appearance, Sparse facial hair, Sparse axillary hair	OMIM:608154
Adams-Oliver Syndrome 2	Alopecia, Cutis marmorata, Low anterior hairline, Narrow palpebral fissure, Small nail	OMIM:614219
Hypercalcemia, Infantile, 1	Polyuria, Nephrolithiasis, Dehydration, Hypercalciuria, Nephrocalcinosis, Medullary nephrocalcinosis	OMIM:143880
Werner Syndrome	Sparse scalp hair, Aplasia/Hypoplasia of the skin, Abnormal hair whorl, Lack of skin elasticity, ...	ORPHA:902
Autosomal Dominant Hypocalcemia	Alopecia, Abnormal fingernail morphology, Eczema, Dry skin, Abnormality of the nail	ORPHA:428
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h...	ORPHA:52901
Fg Syndrome 3	Sparse hair, Cryptorchidism, Frontal upsweep of hair, Fine hair	OMIM:300406
Graft Versus Host Disease	Cutaneous sclerotic plaque, Recurrent infections, Scaling skin, Recurrent gastroenteritis, Skin e...	ORPHA:39812
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ...	OMIM:147630
Mucous Membrane Pemphigoid	Blindness	ORPHA:46486
Lipodystrophy, Familial Partial, Type 2	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer...	OMIM:151660
Incontinentia Pigmenti	Alopecia, Abnormal fingernail morphology, Supernumerary nipple, Abnormal hair morphology, Erythem...	ORPHA:464
Glaucoma 3, Primary Congenital, D	Photophobia	OMIM:613086
Cln3 Disease	Blindness, Acne, Amblyopia, Progressive visual loss, Hirsutism	ORPHA:228346
Homozygous 11P15-P14 Deletion Syndrome	Failure to thrive, Hypoglycemia, Hyperinsulinemia	OMIM:606528
Ovarian Dysgenesis 2	Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Secondary amenorrh...	OMIM:300510
Oculocutaneous Albinism Type 6	Photophobia, Reduced visual acuity	ORPHA:370097
Retinitis Pigmentosa 27	Blindness, Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Visual imp...	OMIM:613750
Nestor-Guillermo Progeria Syndrome	Sparse scalp hair, Alopecia, Prominent superficial veins, Sparse eyelashes, Progeroid facial appe...	OMIM:614008
Ramon Syndrome	Hyperkeratosis, Generalized hirsutism	ORPHA:3019
Angelman Syndrome	Hyperactivity, Fair hair, Precocious puberty in females, Aggressive behavior, Tongue thrusting, S...	ORPHA:72
Glycogen Storage Disease Iii	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperlipidemia, Hepatic fibrosis	OMIM:232400
Hemochromatosis, Neonatal	Hypoglycemia, Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonat...	OMIM:231100
Papa Syndrome	Skin ulcer	ORPHA:69126
Lipodystrophy, Familial Partial, Type 7	Sparse scalp hair, Hypertriglyceridemia, Polyuria, Facial wrinkling, Acanthosis nigricans, Recurr...	OMIM:606721
Retinitis Pigmentosa 51	Nyctalopia, Reduced visual acuity, High myopia, Photophobia, Visual impairment	OMIM:613464
Hypotrichosis 14	Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair	OMIM:618275
Macular Dystrophy, Corneal	Photophobia	OMIM:217800
Lethal Acantholytic Erosive Disorder	Absent eyebrow, Acantholysis, Absent eyelashes, Oligohydramnios, Absent toenail, Absent fingernai...	ORPHA:158687
Sulfite Oxidase Deficiency, Isolated	Sulfocysteinuria, Eczema, Increased urinary sulfite level, Fine hair, Agitation, Decreased urinar...	OMIM:272300
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Broad eyebrow, Visual loss, Photophobia, Hyperkeratosis, Frontal upsweep of hair, Visual impairment	OMIM:301220
Polycystic Ovary Syndrome 1	Enlarged polycystic ovaries, Oligomenorrhea, Hirsutism, Amenorrhea	OMIM:184700
Hemochromatosis, Type 4	Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Glucose intolerance, Cirrhosis, Hepa...	OMIM:606069
Holocarboxylase Synthetase Deficiency	Perioral eczema, Alopecia, Eczema, Keratoconjunctivitis	ORPHA:79242
Bartsocas-Papas Syndrome 1	Absent eyebrow, Ablepharon, Alopecia, Sparse scalp hair, Alopecia totalis, Cicatricial lagophthal...	OMIM:263650
Beta-Mercaptolactate Cysteine Disulfiduria	Dry skin, Downslanted palpebral fissures	ORPHA:1035
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pyoderma gangrenosum	OMIM:604416
Ehlers-Danlos Syndrome, Classic-Like, 2	Prominent superficial veins, Prematurely aged appearance, Redundant skin, Poor wound healing, Cry...	OMIM:618000
Squamous Cell Carcinoma Of The Anal Canal	Skin ulcer	ORPHA:424019
Temporal Arteritis	Blindness	OMIM:187360
Immunodeficiency 84	Recurrent bacterial infections, Persistent EBV viremia	OMIM:619437
Autoimmune Lymphoproliferative Syndrome, Type Iii	Erythematous macule, Alopecia, Recurrent urinary tract infections, Recurrent upper respiratory tr...	OMIM:615559
Even-Plus Syndrome	Recurrent urinary tract infections, Highly arched eyebrow, Synophrys, Atopic dermatitis, Vesicour...	OMIM:616854
Tricho-Retino-Dento-Digital Syndrome	Uncombable hair, Sparse hair	ORPHA:1264
Adrenoleukodystrophy	Alopecia, Blindness, Visual loss, Impotence, Hypogonadism	OMIM:300100
Stuve-Wiedemann Syndrome 1	Sparse hair, Premature skin wrinkling, Thin skin, Short palpebral fissure	OMIM:601559
Scarf Syndrome	Epicanthus, Cryptorchidism, Low anterior hairline, Low posterior hairline, Cutis laxa, Hypoplasti...	OMIM:312830
Fusariosis	Brain abscess, Invasive fungal infection, Paronychia, Subcutaneous nodule, Unusual CNS infection,...	ORPHA:228119
Hermansky-Pudlak Syndrome	Myopia, Hypopigmentation of hair, Menometrorrhagia, Amblyopia, Thickened skin, Photophobia, Hyper...	ORPHA:79430
Retinitis Pigmentosa 73	Ring scotoma, Constriction of peripheral visual field, Photopsia, Central scotoma, Nyctalopia, Bl...	OMIM:616544
Ceroid Lipofuscinosis, Neuronal, 3	Blindness, Reduced visual acuity, Progressive visual loss	OMIM:204200
Neutrophilic Dermatosis, Acute Febrile	Panniculitis, Erythema, Pyoderma gangrenosum	OMIM:608068
Monosomy 18P	Alopecia, Epicanthus, Low posterior hairline, Webbed neck, Ptosis	ORPHA:1598
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Elevated hepatic transaminase, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyp...	ORPHA:2089
Shukla-Vernon Syndrome	Sparse hair, Downslanted palpebral fissures	OMIM:301029
Refsum Disease	Renal insufficiency, Nail dysplasia, Ichthyosis, Dry skin, Ptosis	ORPHA:773
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Diabetes mellitus, Dorsocervical fat pad, Low anterior hairline, Delayed thelarche, Hyperinsuline...	OMIM:616033
Congenital Stationary Night Blindness	Myopia, Nyctalopia, Reduced visual acuity, Congenital stationary night blindness with normal fund...	ORPHA:215
Fanconi Anemia, Complementation Group S	Epicanthus, Low anterior hairline, Ovarian neoplasm, Upslanted palpebral fissure, Long eyelashes,...	OMIM:617883
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Alopecia, Constriction of peripheral visual field, Premature ovarian insuffic...	OMIM:240300
Macs Syndrome	Epicanthus, Alopecia, Palpebral edema, Redundant skin, Sparse eyebrow, Cryptorchidism, Cutis laxa...	OMIM:613075
Giant Axonal Neuropathy 1, Autosomal Recessive	Photophobia, Curly hair	OMIM:256850
X-Linked Intellectual Disability, Nascimento Type	Lumbar hypertrichosis, Recurrent cutaneous abscess formation, Hypospadias, Aggressive behavior, A...	ORPHA:163956
Neovascular Glaucoma	Photophobia, Visual loss, Visual acuity test abnormality	ORPHA:94058
Complement Factor H Deficiency	Recurrent bacterial infections	OMIM:609814
Central Areolar Choroidal Dystrophy	Visual loss, Nyctalopia, Reduced visual acuity, Slow decrease in visual acuity, Dyschromatopsia, ...	ORPHA:75377
Filippi Syndrome	Sparse hair, Cryptorchidism, Frontal hirsutism, Hypertrichosis	OMIM:272440
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Alopecia, Brittle hair, Decreased adipose tissue ar...	OMIM:608612
Retinitis Pigmentosa 4	Blindness, Visual field defect, Reduced visual acuity, Nyctalopia	OMIM:613731
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Aplasia of...	ORPHA:83471
Tetrasomy 12P	Telecanthus, Sparse eyebrow, Upslanted palpebral fissure, Sparse hair, Ptosis	ORPHA:884
Oculocutaneous Albinism Type 1B	Hypopigmentation of hair, Albinism, Thickened skin, Photophobia, Visual impairment	ORPHA:79434
Sheehan Syndrome	Decreased circulating cortisol level, Sparse axillary hair, Reduced circulating prolactin concent...	ORPHA:91355
Keratoendotheliitis Fugax Hereditaria	Photophobia, Blurred vision	OMIM:148200
Flotch Syndrome	Abnormal eyelash morphology, Photophobia, Sparse eyelashes, Abnormality of the nail	ORPHA:2045
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Absent eyebrow, Alopecia, Short stature, Absent eyelashes, Cryptorchidism, Nyctalopia, Visual fie...	ORPHA:166035
Fontaine Progeroid Syndrome	Reduced subcutaneous adipose tissue, Sparse scalp hair, Dermal translucency, Aplastic/hypoplastic...	OMIM:612289
Thiel-Behnke Corneal Dystrophy	Photophobia, Slow decrease in visual acuity	ORPHA:98960
Bone Marrow Failure Syndrome 4	Dry skin	OMIM:618116
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Recurrent sinopulmonary infections, Erythema, Recurrent pneumonia, Chronic mucocutaneous candidia...	OMIM:147060
Wiedemann-Rautenstrauch Syndrome	Hypoplasia of the thymus, Absent eyebrow, Alopecia, Prematurely aged appearance, Absent eyelashes...	OMIM:264090
Dystonia 31	Abnormal posturing	OMIM:619565
Prader-Willi Syndrome	Hypopigmentation of hair, Hypogonadotropic hypogonadism, Decreased response to growth hormone sti...	OMIM:176270
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o...	ORPHA:79414
Cystinosis, Nephropathic	Hypopigmentation of hair, Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Oral-pha...	OMIM:219800
Intellectual Developmental Disorder, Autosomal Dominant 54	Anhidrosis, Eczema, Thin nail, Aggressive behavior, Urinary retention, Bruxism, Sparse hair, Dry ...	OMIM:617799
Sting-Associated Vasculopathy, Infantile-Onset	Nailfold capillary tortuosity, Skin rash, Cutis marmorata, Pustule, Erythema, Livedo reticularis,...	OMIM:615934
Complement Factor B Deficiency	Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease	OMIM:615561
Posterior Cortical Atrophy	Abnormality of vision, Photophobia, Color vision defect, Cerebral visual impairment	ORPHA:54247
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Myopia, Alopecia, Severe short stature, Moderate postnatal growth retardation, Hyperkeratosis, Ic...	ORPHA:1005
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Progeroid facial appearance, Upslanted palpebral fissure, Patchy alopecia, Sparse hair, Short pal...	OMIM:617763
Prader-Willi Syndrome	Hypopigmentation of hair, Diabetes mellitus, Decreased response to growth hormone stimulation tes...	ORPHA:739
Functioning Gonadotropic Adenoma	Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Enlar...	ORPHA:91348
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Fine hair, Narrow palpebral fissure, Dry skin, Downslanted palpebral fissures, Aplasia/Hypoplasia...	ORPHA:2637
Dubowitz Syndrome	Hypoparathyroidism, Ptosis, Epicanthus, Telecanthus, Abnormal fingernail morphology, Sparse scalp...	ORPHA:235
Specific Granule Deficiency 2	Recurrent pneumonia, Hirsutism, Sepsis, Recurrent bacterial infections, Nail dysplasia, Recurrent...	OMIM:617475
Cardiofaciocutaneous Syndrome 3	Hyperkeratosis, Curly hair, Hyperhidrosis	OMIM:615279
Reynolds Syndrome	Xerostomia, Infectious encephalitis, Skin ulcer	ORPHA:779
Alg8-Cdg	Premature skin wrinkling, Abnormality of subcutaneous fat tissue, Cutis laxa	ORPHA:79325
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Woolly hair, Palmoplantar keratoderma	OMIM:611528
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Alopecia, Epicanthus, Supernumerary nipple	ORPHA:3224
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Photophobia, Short stature, Absent pubertal growth spurt	ORPHA:438134
Retinitis Pigmentosa 80	Blindness, Progressive visual loss, Nyctalopia	OMIM:617781
Proteus Syndrome	Epidermal acanthosis, Hyperkeratosis, Limbal dermoid, Downslanted palpebral fissures, Ptosis	OMIM:176920
Intellectual Developmental Disorder, Autosomal Dominant 34	Curly hair, Epicanthus, Bilateral ptosis, Synophrys, Upslanted palpebral fissure, Coarse hair, Br...	OMIM:616351
Chanarin-Dorfman Syndrome	Alopecia, Ectropion	OMIM:275630
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection...	ORPHA:275
Geroderma Osteodysplasticum	Progeroid facial appearance, Neonatal wrinkled skin of hands and feet, Cutis laxa, Premature skin...	OMIM:231070
Rat-Bite Fever	Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca...	ORPHA:31205
Opitz-Kaveggia Syndrome	Epicanthus, Facial wrinkling, Cryptorchidism, Fine hair, Frontal upsweep of hair, Sparse hair, Do...	OMIM:305450
Johnson Neuroectodermal Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Sparse hair, Downslanted palpebral fissures	ORPHA:2316
Fg Syndrome Type 1	Facial wrinkling, Cryptorchidism, Frontal upsweep of hair, Small pituitary gland, Downslanted pal...	ORPHA:93932
Restrictive Dermopathy 1	Ureteral duplication, Entropion, Sparse eyelashes, Short nail, Polyhydramnios, Epidermal hyperker...	OMIM:275210
Wagro Syndrome	Aggressive behavior, Agitation, Downslanted palpebral fissures, Compulsive behaviors, Polyphagia,...	OMIM:612469
Intellectual Developmental Disorder, Autosomal Dominant 1	Highly arched eyebrow, Aggressive behavior, Low posterior hairline, Self-injurious behavior, Long...	OMIM:156200
Cranioectodermal Dysplasia	Sparse hair, Epicanthus, Abnormal fingernail morphology, Abnormal toenail morphology	ORPHA:1515
Rodrigues Blindness	Sparse hair, Blindness, Short stature, Fine hair	OMIM:268320
Giant Cell Arteritis	Alopecia, Recurrent pharyngitis, Skin ulcer, Hyperhidrosis, Meningitis	ORPHA:397
2Q32Q33 Microdeletion Syndrome	Sparse hair, Downslanted palpebral fissures, Decreased testicular size, Fine hair	ORPHA:251019
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Alopecia, Telecanthus, Cryptorchidism, Fine hair, Upslanted palpebral fissure	ORPHA:228390
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Fetal ascites, Synophrys, Facial erythema,...	OMIM:619503
Cog7-Cdg	Excessive wrinkled skin, Jaundice	ORPHA:79333
De Barsy Syndrome	Epicanthus, Progeroid facial appearance, Cryptorchidism, Prominent veins on trunk, Cutis laxa, Ex...	ORPHA:2962
Tenorio Syndrome	Telecanthus, Hypoglycemia, Keratoconjunctivitis sicca, Hypoinsulinemia, Thick eyebrow, Hypertrich...	OMIM:616260
Newfoundland Rod-Cone Dystrophy	Nyctalopia, Scotoma, Visual impairment, Color vision defect	OMIM:607476
Immunodeficiency 33	Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc...	OMIM:300636
Familial Partial Lipodystrophy, Köbberling Type	Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Polycystic ovaries	ORPHA:79084
Congenital Generalized Lipodystrophy	Hypertriglyceridemia, Lipodystrophy, Diabetes mellitus, Precocious puberty in females, Adipose ti...	ORPHA:528
De Sanctis-Cacchione Syndrome	Parakeratosis, Entropion, Bilateral cryptorchidism, Keratitis, Conjunctivitis, Ectropion	OMIM:278800
Pituitary Apoplexy	Bitemporal hemianopia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimu...	ORPHA:95613
Choroideremia	Myopia, Nyctalopia, Abnormality of vision, Progressive visual loss, Visual impairment	ORPHA:180
Infantile Systemic Hyalinosis	Recurrent bacterial infections, Subcutaneous nodule, Skin ulcer, Polycystic ovaries	ORPHA:2176
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Polyphagia	OMIM:620085
Acrofacial Dysostosis, Palagonia Type	Sparse eyelashes, Abnormal eyelid morphology, Low anterior hairline, Thin eyebrow, Sparse hair, P...	ORPHA:1787
Cataract-Intellectual Disability-Hypogonadism Syndrome	Cryptorchidism, Abnormal toenail morphology, Prematurely aged appearance, Low posterior hairline	ORPHA:1387
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevat...	OMIM:619048
Satoyoshi Syndrome	Short stature, Abnormal hair morphology, Sparse or absent eyelashes, Hypoplasia of the ovary, Abn...	ORPHA:3130
Retinitis Pigmentosa 78	Reduced visual acuity, Nyctalopia, Photopsia, Visual field defect	OMIM:617433
Hypercalcemia, Infantile, 2	Polyuria, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Medullary nephrocalcinosis	OMIM:616963
Premature Ovarian Failure 19	Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility	OMIM:619245
Gapo Syndrome	Myopia, Alopecia, Sparse eyelashes, Dysmenorrhea, Short stature, Sparse eyebrow, Early balding, O...	ORPHA:2067
Retinal Capillary Malformation	Myopia, Blindness, Photopsia, Vitreous floaters, Amblyopia, Reduced visual acuity, Paracentral sc...	ORPHA:71213
Huriez Syndrome	Congenital palmoplantar hyperkeratosis, Epidermal acanthosis, Nail dystrophy, Small nail	OMIM:181600
Immunodeficiency, Common Variable, 8, With Autoimmunity	Recurrent respiratory infections, Psoriasiform lesion, Recurrent pneumonia, Sepsis, Thyroiditis, ...	OMIM:614700
Ddost-Cdg	Dry skin	ORPHA:300536
Cardiocranial Syndrome, Pfeiffer Type	Sparse hair, Abnormal hair whorl, Downslanted palpebral fissures, Cryptorchidism	ORPHA:2872
Retinitis Pigmentosa 59	Constriction of peripheral visual field, Cryptorchidism, Nyctalopia, Reduced visual acuity, Intra...	OMIM:613861
Renal Hypoplasia	Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Urethral valve, Unilateral ...	ORPHA:93101
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Prematurely aged appearance, Progeroid facial appearance, Abnormal hair morphology, Nai...	ORPHA:90154
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Upslanted palpebral fissure, Narrow palpebral fissure, Sparse hair, Hirsutism	OMIM:618087
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Duplicated collecting system, Ptosis, Telecanthus, Epicanthus, Violent behavior, Highly arched ey...	OMIM:280000
Bresek Syndrome	Alopecia, Cryptorchidism, Growth delay, Ichthyosis, Intrauterine growth retardation, Decreased te...	ORPHA:85284
Boucher-Neuhauser Syndrome	Photophobia, Hypogonadotropic hypogonadism, Progressive visual loss	OMIM:215470
Bartsocas-Papas Syndrome	Alopecia totalis, Hypoplastic toenails, Ankyloblepharon, Popliteal pterygium, Sparse or absent ey...	ORPHA:1234
Retinitis Pigmentosa 11	Blindness, Constriction of peripheral visual field, Reduced visual acuity, Nyctalopia	OMIM:600138
Cone-Rod Dystrophy 12	Central scotoma, Nyctalopia, Reduced visual acuity, Color vision defect	OMIM:612657
Hyperinsulinemic Hypoglycemia, Familial, 1	Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:256450
Poikiloderma With Neutropenia	Plantar hyperkeratosis, Skin rash, Edema, Sparse eyebrow, Recurrent pneumonia, Nasolacrimal duct ...	OMIM:604173
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse	Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal acanthosis	OMIM:615735
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Epicanthus, Prominent superficial veins, Cryptorchidism, Fine hair, Sparse hair, Downslanted palp...	OMIM:616817
Vulto-Van Silfhout-De Vries Syndrome	Epicanthus, Aggressive behavior, Widow's peak, Fine hair, Upslanted palpebral fissure, Horizontal...	OMIM:615828
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Abnormal fingernail morphology, Pruritus, Gastrointestinal inflammation, Hyperkeratotic papule, P...	ORPHA:79410
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Decreased testicular size, Restlessness, Aggressive behavior, Cryptorchidism, Dacryocystitis, Fin...	ORPHA:251028
Immunodeficiency, Common Variable, 2	Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusitis, Recurrent otitis media,...	OMIM:240500
Chromosome Xq26.3 Duplication Syndrome	Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul...	OMIM:300942
Tsh-Secreting Pituitary Adenoma	Bitemporal hemianopia, Abnormal visual field test, Male hypogonadism, Hypogonadotropic hypogonadi...	ORPHA:91347
Cryoglobulinemic Vasculitis	Petechiae, Skin ulcer, Purpura	ORPHA:91138
Ceroid Lipofuscinosis, Neuronal, 1	Blindness, Progressive visual loss	OMIM:256730
Idiopathic Intracranial Hypertension	Scintillating scotoma, Diplopia, Visual loss, Photophobia, Blurred vision	ORPHA:238624
Immunodeficiency 10	Recurrent bacterial infections, Hypohidrosis, Nail dysplasia, Recurrent infections	OMIM:612783
Linear Verrucous Nevus Syndrome	Hyperkeratosis, Sparse scalp hair, Abnormality of the kidney	ORPHA:2611
Darier-White Disease	Ridged nail, Acrokeratosis, Acantholysis, Pruritus, Enlargement of parotid gland, Subungual hyper...	OMIM:124200
Glycogen Storage Disease Ixb	Splenomegaly, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia	OMIM:261750
Bothnia Retinal Dystrophy	Large central visual field defect, Ring scotoma, Central scotoma, Nyctalopia, Visual field defect...	ORPHA:85128
Anauxetic Dysplasia 2	Sparse hair, Nail dysplasia, Small nail	OMIM:617396
Pili Torti, Early-Onset	Dry hair, Brittle hair, Coarse hair, Hair shafts flattened at irregular intervals and twisted thr...	OMIM:261900
Desbuquois Syndrome	Abnormal eyelash morphology, Sparse hair	ORPHA:1425
Dowling-Degos Disease	Abnormal fingernail morphology, Penile freckling, Pruritus, Hyperkeratosis, Arthritis, Skin vesic...	ORPHA:79145
Den Hoed-De Boer-Voisin Syndrome	Recurrent urinary tract infections, Abnormal repetitive mannerisms, Widow's peak, Stereotypical h...	OMIM:619229
Acth Deficiency, Isolated	Jaundice, Decreased circulating cortisol level, Fasting hypoglycemia, Cholestasis	OMIM:201400
Hemochromatosis, Type 1	Alopecia, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Amenorrhea	OMIM:235200
Weaver Syndrome	Deep-set nails, Epicanthus, Inguinal hernia, Thin nail, Cryptorchidism, Fine hair, Hydrocele test...	OMIM:277590
Albinism, Oculocutaneous, Type Ia	Myopia, Hypopigmentation of hair, Albinism, White hair, Reduced visual acuity, Photophobia, Visua...	OMIM:203100
Leber Congenital Amaurosis 4	Blindness, Reduced visual acuity, Nyctalopia	OMIM:604393
Insensitivity To Pain, Congenital, With Anhidrosis	Sparse scalp hair, Anhidrosis, Acral ulceration, Nail dysplasia, Nail dystrophy	OMIM:256800
Agammaglobulinemia 4, Autosomal Recessive	Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia	OMIM:613502
Papillon-Lefèvre Syndrome	Recurrent cutaneous abscess formation, Abnormal fingernail morphology, Severe periodontitis, Recu...	ORPHA:678
Chromosome 5P13 Duplication Syndrome	Epicanthus, Blepharophimosis, Vesicoureteral reflux, Low posterior hairline, Upslanted palpebral ...	OMIM:613174
Intellectual Developmental Disorder, Autosomal Dominant 65	Synophrys, Low posterior hairline, Upslanted palpebral fissure, Narrow palpebral fissure, Thin ey...	OMIM:619320
Trichohepatoenteric Syndrome 2	Brittle hair, Uncombable hair, Sparse hair, Woolly hair, Trichorrhexis nodosa	OMIM:614602
Leukocyte Adhesion Deficiency, Type Iii	Recurrent bacterial infections, Subcutaneous nodule, Sepsis, Petechiae	OMIM:612840
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Abnormal eyebrow morphology, Alopecia, Streak ovary, Sparse facial hair, Hypergonadotropic hypogo...	ORPHA:2232
Kury-Isidor Syndrome	Alopecia, Downslanted palpebral fissures, Hypertrichosis, Ptosis	OMIM:619762
Corneal Dystrophy, Meesmann, 2	Photophobia	OMIM:618767
Cach Syndrome	Blindness, Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea, Growth dela...	ORPHA:135
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Proximal tubulopathy, Polyuria, Dehydration, Ptosis	OMIM:560000
Keutel Syndrome	Recurrent respiratory infections, Alopecia, Dermal atrophy, Recurrent sinusitis, Recurrent otitis...	ORPHA:85202
Toxic Epidermal Necrolysis	Renal insufficiency, Entropion, Dysuria, Acantholysis, Abnormality of the urethra, Erythema, Skin...	ORPHA:537
Aicardi-Goutieres Syndrome 9	Acute pancreatitis, Pericarditis, Renal insufficiency, Chilblains, Edema, Recurrent urinary tract...	OMIM:619487
Secondary Short Bowel Syndrome	Central hypothyroidism, Polyphagia, Primary hypothyroidism, Steatorrhea	ORPHA:95427
Ectodermal Dysplasia 13, Hair/Tooth Type	Brittle hair, Sparse eyelashes, Low anterior hairline, Thin eyebrow, Downslanted palpebral fissures	OMIM:617392
Pemphigus Vulgaris	Atypical scarring of skin, Recurrent cutaneous abscess formation, Recurrent infections, Acantholysis	ORPHA:704
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Prolonged neonatal jaundice, Dry skin, Goiter	ORPHA:95715
Propionic Acidemia	Hepatomegaly, Hypoglycemia	ORPHA:35
Bare Lymphocyte Syndrome, Type Ii	Chronic lymphocytic meningitis, Recurrent urinary tract infections, Recurrent viral infections, R...	OMIM:209920
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Hypoglycemia, Hepatic failure, Failure to thrive, Hepatic steatosis	OMIM:617872
Ermine Phenotype	Photophobia, Hypopigmentation of hair, Short stature	ORPHA:999
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Bilateral ptosis...	ORPHA:544488
Dermatomyositis	Abnormal hair quantity, Telangiectasia of the skin, Abnormal eyelid morphology, Pruritus, Erythem...	ORPHA:221
Adnp Syndrome	Sparse scalp hair, Inguinal hernia, Aggressive behavior, Oral-pharyngeal dysphagia, Cryptorchidis...	ORPHA:404448
Jalili Syndrome	Scotoma, Nyctalopia, Monochromacy, Photophobia, High hypermetropia, Visual impairment	OMIM:217080
Craniofrontonasal Dysplasia	Hypospadias, Abnormality of hair texture, Widow's peak, Low posterior hairline, Ridged fingernail...	ORPHA:1520
Leprosy	Urticarial plaque, Hypopigmented macule, Absent eyebrow, Alopecia, Skin nodule, Loss of eyelashes...	ORPHA:548
Uncombable Hair Syndrome 1	Uncombable hair, Dry hair, Pili canaliculi	OMIM:191480
Immunodeficiency With Hyper-Igm, Type 5	Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections	OMIM:608106
Intellectual Disability, Buenos-Aires Type	Abnormal fingernail morphology, Short stature, Hyperconvex thumb nails, Fine hair, Photophobia	ORPHA:3079
Mucolipidosis Iv	Photophobia, Visual impairment	OMIM:252650
Chand Syndrome	Dry skin, Curly hair, Nail dysplasia, Ankyloblepharon	ORPHA:1401
Sandhoff Disease	Blindness	ORPHA:796
Hallermann-Streiff Syndrome	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Fine hair, Telangiectasia, S...	OMIM:234100
Bardet-Biedl Syndrome 17	Polydipsia, Polyuria, Stage 5 chronic kidney disease, Renal cyst, Micropenis	OMIM:615994
Mandibulofacial Dysostosis With Alopecia	Alopecia, Sparse eyelashes, Lower eyelid coloboma	OMIM:616367
Hyperaldosteronism, Familial, Type Iii	Adrenal hyperplasia, Polyuria, Hypercalciuria, Hyperaldosteronism, Polydipsia	OMIM:613677
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Renal potassium ...	OMIM:618314
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Blindness	ORPHA:2787
Post-Traumatic Pituitary Deficiency	Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Pituitary h...	ORPHA:95619
Pachyonychia Congenita 1	Nail dystrophy, Follicular hyperkeratosis, Palmoplantar hyperkeratosis, Onychogryposis	OMIM:167200
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Curly hair, Epicanthus, Sparse eyebrow, Synophrys, Sparse hair, Downslanted palpebral fissures	OMIM:620075
Central Diabetes Insipidus	Polydipsia, Nocturia, Dehydration, Anorexia	ORPHA:178029
Dyskeratosis Congenita, Autosomal Recessive 6	Sparse hair, Alopecia, Nail dystrophy	OMIM:616353
Lymphatic Malformation 4	Lymphedema, Pedal edema, Hydrocele testis, Hyperkeratosis, Toenail dysplasia	OMIM:615907
Retinitis Pigmentosa 20	Nyctalopia, Visual impairment, Severely reduced visual acuity	OMIM:613794
Bardet-Biedl Syndrome 4	Cryptorchidism, Nyctalopia, Hypogonadism	OMIM:615982
Superficial Epidermolytic Ichthyosis	Ichthyosis, Erythema, Palmoplantar keratoderma, Acantholysis	ORPHA:455
Corneal Dystrophy, Congenital Stromal	Photophobia, Progressive visual loss	OMIM:610048
Tonne-Kalscheuer Syndrome	Hypospadias, Concave nail, Aggressive behavior, Cryptorchidism, Fine hair, Self-injurious behavio...	OMIM:300978
Immunodeficiency With Hyper-Igm, Type 4	Recurrent bacterial infections, Recurrent upper respiratory tract infections, Recurrent infection...	OMIM:608184
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy	Blindness	OMIM:607674
Cataract 11, Multiple Types	Blindness	OMIM:610623
Beta-Thalassemia Intermedia	Hypoparathyroidism, Skin ulcer, Adrenal insufficiency, Pallor, Cholelithiasis, Hypothyroidism	ORPHA:231222
Cerebrooculofacioskeletal Syndrome 2	Sparse hair, Cutaneous photosensitivity	OMIM:610756
Agammaglobulinemia 6, Autosomal Recessive	Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia, Recurrent bronchitis	OMIM:612692
Cutis Laxa, Autosomal Recessive, Type Iiia	Prominent superficial blood vessels, Cryptorchidism, Cutis laxa, Thin skin, Sparse hair	OMIM:219150
Ochoa Syndrome	Recurrent urinary tract infections, Renal insufficiency, Urinary incontinence, Cryptorchidism, Ur...	ORPHA:2704
Syndromic Recessive X-Linked Ichthyosis	Renal insufficiency, Unilateral renal agenesis, Cryptorchidism, Hypohidrosis, Hyperkeratosis, Att...	ORPHA:281090
Abnormal Hair, Joint Laxity, And Developmental Delay	Alopecia, Trichorrhexis nodosa, Small nail, Pili torti, Fragile nails, Sparse lateral eyebrow	OMIM:261990
Cutis Laxa, Autosomal Dominant 3	Premature skin wrinkling, Cutis laxa, Dermal translucency	OMIM:616603
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Hyperhidrosis, Upslanted palpebral fissure, Fine hair, Long eyelashes, High anterior hairline	ORPHA:231137
Seborrhea-Like Dermatitis With Psoriasiform Elements	Hyperkeratosis, Epidermal acanthosis	OMIM:610227
Xp22.13P22.2 Duplication Syndrome	Macroorchidism, Polycystic ovaries, Sparse hair, High anterior hairline, Downslanted palpebral fi...	ORPHA:284180
Axial Spondylometaphyseal Dysplasia	Mild postnatal growth retardation, Short stature, Amblyopia, Disproportionate short-trunk short s...	ORPHA:168549
Orofaciodigital Syndrome Type 1	Alopecia, Brittle hair, Epicanthus, Telecanthus, Multicystic kidney dysplasia, Renal insufficienc...	ORPHA:2750
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Nyctalopia, Follicular hyperkeratosis	OMIM:277350
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:256100
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hypoglycemia	ORPHA:364
Acute Adrenal Insufficiency	Renal insufficiency, Decreased circulating cortisol level, Salt craving, Sparse axillary hair, De...	ORPHA:95409
Pgm3-Cdg	Recurrent respiratory infections, Recurrent viral infections, Recurrent pneumonia, Sepsis, Skin u...	ORPHA:443811
Usher Syndrome, Type Iiia	Nyctalopia, Reduced visual acuity, Visual field defect	OMIM:276902
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Agitation, Pancreatic islet-cell hyperplasia, Fasting hy...	ORPHA:276608
Immunodeficiency 27B	Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections	OMIM:615978
Hypomagnesemia 3, Renal	Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki...	OMIM:248250
Specific Granule Deficiency 1	Recurrent bacterial infections	OMIM:245480
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Increase...	OMIM:261680
Migraine With Or Without Aura, Susceptibility To, 6	Photophobia, Phonophobia	OMIM:607516
Sweet Syndrome	Skin nodule, Pyoderma gangrenosum, Recurrent infections, Erythematous plaque, Panniculitis, Skin ...	ORPHA:3243
Whim Syndrome 1	Recurrent bacterial infections, Recurrent upper respiratory tract infections	OMIM:193670
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Duplicated collecting system, Curly hair, Sparse scalp hair, Epicanthus, Hyperactivity, Eczema, P...	OMIM:607721
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Sparse hair, Downslanted palpebral fissures	OMIM:620001
Albinism, Oculocutaneous, Type Ii	Myopia, Hypopigmentation of hair, Albinism, Reduced visual acuity, Red hair, Visual impairment	OMIM:203200
Retinopathy, Pericentral Pigmentary, Dominant	Blindness, Nyctalopia	OMIM:180210
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Retinitis Pigmentosa 18	Nyctalopia, Progressive visual field defects, Scotoma	OMIM:601414
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome	Photophobia	ORPHA:139450
Braddock-Carey Syndrome 1	Sparse hair, Curly hair, Telecanthus, Downslanted palpebral fissures	OMIM:619980
Borjeson-Forssman-Lehmann Syndrome	Cryptorchidism, Sparse hair, Blepharophimosis, Decreased testicular size, Thick eyebrow, Ptosis	ORPHA:127
Hereditary Acrokeratotic Poikiloderma	Erythema, Xerostomia, Hypopigmented skin patches, Skin ulcer, Dystrophic toenail, Thin skin, Nail...	ORPHA:2907
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Polyhydramnios, Edema...	OMIM:602522
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Plethora, Alopecia, Striae distensae, Acne, Dorsocervical fat pad, Pituitary adenoma, Primary hyp...	ORPHA:189427
Dominant Beta-Thalassemia	Hypoparathyroidism, Chronic infection, Skin ulcer, Adrenal insufficiency, Pallor, Hypopituitarism...	ORPHA:231226
Congenital Disorder Of Glycosylation, Type Iie	Jaundice, Low anterior hairline, Upslanted palpebral fissure, Excessive wrinkled skin, Short palp...	OMIM:608779
Hermansky-Pudlak Syndrome 6	Photophobia, Reduced visual acuity, Amblyopia, Albinism	OMIM:614075
Migraine With Or Without Aura, Susceptibility To, 12	Photophobia, Phonophobia	OMIM:611706
Migraine Without Aura, Susceptibility To, 4	Photophobia, Phonophobia	OMIM:607501
Migraine With Or Without Aura, Susceptibility To, 5	Photophobia, Phonophobia	OMIM:607508
Migraine With Or Without Aura, Susceptibility To, 1	Photophobia, Phonophobia	OMIM:157300
Migraine With Or Without Aura, Susceptibility To, 10	Photophobia, Phonophobia	OMIM:610208
Migraine With Or Without Aura, Susceptibility To, 11	Photophobia, Phonophobia	OMIM:610209
Migraine With Or Without Aura, Susceptibility To, 2	Photophobia, Phonophobia	OMIM:300125
Migraine With Or Without Aura, Susceptibility To, 3	Photophobia, Phonophobia	OMIM:607498
Familial Hyperprolactinemia	Female hypogonadism, Hemorrhagic ovarian cyst, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea	ORPHA:397685
Cavitary Optic Disc Anomalies	Nyctalopia, Reduced visual acuity, Visual field defect	OMIM:611543
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypospadias, Glomerulonephritis, Proteinuria, Synophrys, Fine hair, Nephrotic syndrome, Glomerula...	OMIM:619428
Neuropathy, Ataxia, And Retinitis Pigmentosa	Blindness	OMIM:551500
Retinitis Pigmentosa 1	Myopia, Constriction of peripheral visual field, Scotoma, Nyctalopia, Reduced visual acuity	OMIM:180100
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Hypertriglyceridemia, Edema, Minimal chang...	ORPHA:567548
Gomez-Lopez-Hernandez Syndrome	Alopecia, Downslanted palpebral fissures, Decreased response to growth hormone stimulation test	OMIM:601853
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Blindness, Albinism, Photophobia, Severely reduced visual acuity	OMIM:203300
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Alopecia, Hypogonadism, Infertility, Oligomenorrhea, Delayed menarche	ORPHA:412057
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Prolonged neonatal jaundice, Dry skin, Goiter	ORPHA:226313
H Syndrome	Abnormal eyebrow morphology, Alopecia, Psoriasiform dermatitis, Short stature, Delayed puberty, A...	ORPHA:168569
Retinitis Pigmentosa 37	Constriction of peripheral visual field, Red-green dyschromatopsia, Nyctalopia, Reduced visual ac...	OMIM:611131
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Alopecia, Conjunctivitis, Nail dystrophy, Nail dysplasia, Fragile skin	OMIM:226600
Episodic Ataxia, Type 6	Photophobia, Diplopia, Phonophobia	OMIM:612656
Syndromic Diarrhea	Hypopigmentation of hair, Brittle hair, Gastritis, Renal hypoplasia, Colitis, Hypoplasia of the t...	ORPHA:84064
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Myopia, Synophrys, Nyctalopia	ORPHA:1390
Cystinosis	Renal insufficiency, Proteinuria, Dehydration, Renal tubular dysfunction, Aminoaciduria, Nephropa...	ORPHA:213
Livedoid Vasculopathy	Graves disease, Skin ulcer, Atrophic scars, Macular purpura, Ecchymosis, Erythematous papule	ORPHA:542643
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hepatic failure, Hypoglycemia	ORPHA:664
Hajdu-Cheney Syndrome	Telecanthus, Abnormal fingernail morphology, Hypospadias, Thickened skin, Synophrys, Low anterior...	ORPHA:955
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Attention deficit hyperactivity disorder...	ORPHA:35878
Oligodontia-Colorectal Cancer Syndrome	Absent eyebrow, Sparse scalp hair, Sparse axillary hair, Short eyelashes, Sparse body hair	OMIM:608615
Septo-Optic Dysplasia Spectrum	Hypoplasia of penis, Anterior pituitary hypoplasia, Cryptorchidism, Hypohidrosis, Polydipsia, Dry...	ORPHA:3157
Chromosome Xq27.3-Q28 Duplication Syndrome	Decreased testicular size, Cryptorchidism, Increased circulating gonadotropin level, Sparse body ...	OMIM:300869
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Secondary amenorrhea, Abn...	OMIM:228300
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent sinopulmonary infections, Recurrent viral infections, Recurrent pneumonia, Recurrent ba...	OMIM:243700
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Epicanthus, Dorsocervical fat pad, Synophrys, Low anterior hairline, Fine hair, Sparse hair, Down...	ORPHA:391408
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Polydipsia, Megacystis, Polyuria, Hypertonic dehydration	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Polydipsia, Megacystis, Polyuria, Hypertonic dehydration	OMIM:304800
Gapo Syndrome	Prominent scalp veins, Alopecia, Epicanthus, Sparse eyelashes, Redundant skin, Sparse eyebrow, Hy...	OMIM:230740
Androgen Insensitivity Syndrome	Absent facial hair, Elevated circulating luteinizing hormone level, Sparse axillary hair, Sparse ...	OMIM:300068
Combined Immunodeficiency Due To Crac Channel Dysfunction	Anhidrosis, Recurrent viral infections, Recurrent mycobacterial infections, Sepsis, Recurrent bac...	ORPHA:169090
Microscopic Polyangiitis	Subcutaneous nodule, Erythema, Pancreatitis, Skin ulcer	ORPHA:727
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Epicanthus, Hyperactivity, Hypospadias, Fine hair, Upslanted palpebral fissure, Narrow palpebral ...	ORPHA:363686
Glucocorticoid Deficiency 2	Decreased circulating cortisol level, Recurrent hypoglycemia	OMIM:607398
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent bronchitis, Recurrent Haemophilus influenzae infections	OMIM:300455
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Acral ulceration	OMIM:162400
Menkes Disease	Hypopigmentation of hair, Osteomyelitis, Thickened skin, Bladder diverticulum, Sparse hair, Wooll...	ORPHA:565
Mandibuloacral Dysplasia With Type A Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Sparse scalp hair, Alopecia, Reduced subcutaneous a...	OMIM:248370
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
Macular Dystrophy, Retinal, 4	Nyctalopia, Reduced visual acuity	OMIM:619977
Oculopharyngodistal Myopathy 3	Photophobia	OMIM:619473
Blau Syndrome	Clear cell renal cell carcinoma, Pericarditis, Skin rash, Keratitis, Retrobulbar optic neuritis, ...	ORPHA:90340
Retinitis Pigmentosa 68	Nyctalopia, Reduced visual acuity, Visual field defect	OMIM:615725
Narp Syndrome	Abnormal visual field test, Blindness, Constriction of peripheral visual field, Short stature	ORPHA:644
Woodhouse-Sakati Syndrome	Alopecia, Streak ovary, Decreased response to growth hormone stimulation test, Hyperlipidemia, Sc...	ORPHA:3464
Diffuse Cutaneous Systemic Sclerosis	Xerostomia, Skin ulcer	ORPHA:220393
Panhypophysitis	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot...	ORPHA:95513
Retinitis Pigmentosa 62	Nyctalopia, Reduced visual acuity, Visual field defect	OMIM:614181
Optic Pathway Glioma	Blindness, Visual loss, Reduced visual acuity, Visual field defect, Growth delay	ORPHA:2086
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Sparse hair, Epicanthus, Downslanted palpebral fissures	OMIM:614105
Corneodermatoosseous Syndrome	Severe short stature, Abnormal fingernail morphology, Thickened skin, Nyctalopia, Photophobia, He...	ORPHA:3194
Joubert Syndrome 37	Sparse hair, Cryptorchidism, Decreased testicular size, Ptosis	OMIM:619185
Hemihyperplasia-Multiple Lipomatosis Syndrome	Seborrheic dermatitis, Hyperparakeratosis, Hydrocele testis, Nephroblastoma, Ovarian serous cysta...	ORPHA:276280
Mucopolysaccharidosis, Type Iiib	Hyperactivity, Aggressive behavior, Heparan sulfate excretion in urine, Synophrys, Coarse hair, H...	OMIM:252920
Mitochondrial Complex I Deficiency, Nuclear Type 33	Hypospadias, Bronchiectasis, Aspiration pneumonia, Dysphagia, Sparse hair, Oligohydramnios	OMIM:618253
Retinitis Pigmentosa 92	Paracentral scotoma, Nyctalopia, Constriction of peripheral visual field, Visual impairment	OMIM:619614
Retinitis Pigmentosa 85	Progressive night blindness, Reduced visual acuity	OMIM:618345
Gangliocytoma	Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar...	ORPHA:251937
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Recurrent skin infections, Hypermetropia, Photophobia, Growth delay, Palmoplantar kerat...	ORPHA:79396
Usher Syndrome Type 3	Scotoma, Visual loss, Nyctalopia, Hemianopia, High hypermetropia	ORPHA:231183
Helsmoortel-Van Der Aa Syndrome	Hyperactivity, Epicanthus, Decreased response to growth hormone stimulation test, Abnormal repeti...	OMIM:615873
Ectodermal Dysplasia And Immunodeficiency 1	Sparse hair, Molluscum contagiosum, Ectodermal dysplasia, Aplasia of the eccrine sweat glands	OMIM:300291
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Cyanosis, Decreased response to growth hormone stimulation test, Central diabetes insipidus, Aggr...	ORPHA:293987
Perlman Syndrome	Epicanthus, Inguinal hernia, Femoral hernia, Cryptorchidism, Abnormal pancreas morphology, Hyperi...	ORPHA:2849
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome	Hyperkeratotic papule, Leukonychia, Palmoplantar keratoderma, Palmoplantar hyperkeratosis	ORPHA:2698
3-Methylcrotonyl-Coa Carboxylase Deficiency	Failure to thrive in infancy, Hypoglycemia	ORPHA:6
Late-Onset Retinal Degeneration	Visual loss, Adult-onset night blindness, Scotoma	OMIM:605670
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Salt craving, Polyuria, Renal salt wasting, Enuresis, Hyperaldosteronism, Hypocalciuria, Renal so...	OMIM:612780
Wrinkly Skin Syndrome	Epicanthus, Short nail, Redundant skin, Progeroid facial appearance, Cryptorchidism, Neonatal wri...	OMIM:278250
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Curly hair, Epicanthus, Redundant neck skin, Telecanthus, Highly arched eyebrow, Polyhydramnios, ...	OMIM:617360
Fanconi-Bickel Syndrome	Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Diabetes mellitus, Elevated circulating as...	ORPHA:2088
Hyperparathyroidism, Neonatal Severe	Hyperphosphaturia, Polyuria, Primary hyperparathyroidism, Hypercalciuria, Aminoaciduria, Polydipsia	OMIM:239200
Tangier Disease	Dry skin, Nail dystrophy, Ectropion	ORPHA:31150
Tyrosinemia Type 2	Visual loss, Photophobia, Hyperkeratosis, Palmoplantar keratoderma, Abnormality of the nail	ORPHA:28378
Retinitis Pigmentosa 23	Constriction of peripheral visual field, Mild myopia, Photophobia, Severely reduced visual acuity...	OMIM:300424
Mucopolysaccharidosis, Type Vii	Severe short stature, Short stature, Postnatal growth retardation, Hirsutism, Photophobia, Coarse...	OMIM:253220
Usher Syndrome Type 1	Scotoma, Visual loss, Nyctalopia, Hemianopia, High hypermetropia	ORPHA:231169
7Q11.23 Microduplication Syndrome	Hyperactivity, Collectionism, Inguinal hernia, Congenital diaphragmatic hernia, Aggressive behavi...	ORPHA:96121
Hydroxykynureninuria	Stomatitis, Renal tubular acidosis, Dry skin, Abnormal repetitive mannerisms	ORPHA:79155
Osteopenia-Intellectual Disability-Sparse Hair Syndrome	Sparse scalp hair, Fine hair	ORPHA:2324
Fucosidosis	Petechiae, Angiokeratoma, Tortuosity of conjunctival vessels, Dry skin, Bruising susceptibility, ...	OMIM:230000
Immunodeficiency, Common Variable, 1	Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusitis, Recurrent otitis media,...	OMIM:607594
Galactokinase Deficiency	Hepatomegaly, Small for gestational age, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly, Hype...	ORPHA:79237
Carnitine Palmitoyl Transferase 1A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Transient hyperlipidemia, Hepatic failure	ORPHA:156
Harlequin Ichthyosis	Erythroderma, Dehydration, Hyperkeratosis, Congenital ichthyosiform erythroderma, Self-injurious ...	ORPHA:457
Night Blindness, Congenital Stationary, Type1I	Tritanomaly, Nyctalopia	OMIM:618555
Bangstad Syndrome	Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating...	ORPHA:1227
Retinitis Pigmentosa 72	Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, High myopia, Photophobia	OMIM:616469
Cardiofaciocutaneous Syndrome 1	Absent eyebrow, Curly hair, Epicanthus, Slow-growing hair, Polyhydramnios, Absent eyelashes, Tong...	OMIM:115150
Retinal Dystrophy With Or Without Macular Staphyloma	Short stature, Central scotoma, Nyctalopia, Reduced visual acuity, Photophobia	OMIM:617547
Severe Canavan Disease	Blindness	ORPHA:314911
Mohr-Tranebjaerg Syndrome	Cerebral visual impairment, Visual loss, Central scotoma, Photophobia, Visual impairment, Color v...	ORPHA:52368
Trichothiodystrophy 3, Photosensitive	Brittle hair, Bilateral cryptorchidism, Congenital ichthyosiform erythroderma, Congenital nonbull...	OMIM:616395
Neuropathy, Hereditary Sensory And Autonomic, Type V	Anhidrosis, Acral ulceration	OMIM:608654
Beta-Thalassemia Major	Hypoparathyroidism, Chronic infection, Skin ulcer, Adrenal insufficiency, Pallor, Hypopituitarism...	ORPHA:231214
Ogden Syndrome	Epicanthus, Redundant neck skin, Prematurely aged appearance, Eczema, Redundant skin, Abnormal ey...	OMIM:300855
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Ptosis, Epicanthus, Curly hair, Lacrimal duct stenosis, Slow-growing hair, Highly arched eyebrow,...	OMIM:617506
Rothmund-Thomson Syndrome, Type 2	Absent eyebrow, Epicanthus, Alopecia, Sparse eyelashes, Sparse scalp hair, Absent eyelashes, Spar...	OMIM:268400
Retinopathy Of Prematurity	Blindness	ORPHA:90050
Hereditary Spherocytosis	Cholelithiasis, Pallor, Skin ulcer	ORPHA:822
Iga Pemphigus	Neutrophilic infiltration of the skin, Acantholysis, Pustule, Pruritus, Ulcerative colitis, Skin ...	ORPHA:555905
Atypical Pantothenate Kinase-Associated Neurodegeneration	Blindness	ORPHA:216873
Retinitis Pigmentosa 19	Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity, Visual impairment	OMIM:601718
Fowler Urethral Sphincter Dysfunction Syndrome	Acne, Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Hirsutism, Ameno...	ORPHA:2795
Oculocerebrocutaneous Syndrome	Alopecia, Abnormal fingernail morphology, Cryptorchidism, Eyelid coloboma, Ptosis	ORPHA:1647
Ane Syndrome	Alopecia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decreased response to gro...	ORPHA:157954
Trichotillomania	Alopecia	OMIM:613229
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Hypoplasia of penis, Slow-growing hair, Abnormal hair morphology, Cryptorchidism, Upslanted palpe...	ORPHA:3082
Cockayne Syndrome Type 2	Cryptorchidism, Photophobia, Male hypogonadism, Visual impairment, Intrauterine growth retardation	ORPHA:90322
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Alopecia	OMIM:600785
Senior-Loken Syndrome 3	Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisi...	OMIM:606995
Retinitis Pigmentosa 2	Pericentral scotoma, Myopia, Constriction of peripheral visual field, Ring scotoma, Central scoto...	OMIM:312600
Riddle Syndrome	Recurrent viral infections, Erythema, Recurrent pneumonia, Scaling skin, Recurrent sinusitis	ORPHA:420741
Retinitis Pigmentosa 63	Nyctalopia, Blurred vision	OMIM:614494
Wiedemann-Rautenstrauch Syndrome	Reduced subcutaneous adipose tissue, Sparse scalp hair, Prominent scalp veins, Entropion, Recurre...	ORPHA:3455
Biotinidase Deficiency	Alopecia, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Conjunctivitis	OMIM:253260
Progeria-Short Stature-Pigmented Nevi Syndrome	Neoplasm of the pancreas, Alopecia, Premature ovarian insufficiency, Hypergonadotropic hypogonadi...	ORPHA:2959
Chondrodysplasia Punctata 2, X-Linked Dominant	Sparse eyelashes, Edema, Polyhydramnios, Sparse eyebrow, Congenital ichthyosiform erythroderma, P...	OMIM:302960
Milroy Disease	Epicanthus, Predominantly lower limb lymphedema, Lymphedema, Erysipelas, Pedal edema, Hydrocele t...	ORPHA:79452
Mucopolysaccharidosis-Plus Syndrome	Epicanthus, Telecanthus, Proteinuria, Thickened skin, Synophrys, Recurrent pneumonia, Low anterio...	OMIM:617303
Hutchinson-Gilford Progeria Syndrome	Absent eyebrow, Prominent superficial blood vessels, Cyanosis, Alopecia totalis, Nocturnal lagoph...	ORPHA:740
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Leber Congenital Amaurosis 3	Visual loss, Nyctalopia, Constriction of peripheral visual field	OMIM:604232
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Recurrent bacterial skin infections, Recurrent herpes, Severe recurrent varicella, Recurrent oppo...	ORPHA:276
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:613550
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Absence of Stensen duct, Decreased response to growth hormone stimulation test, Xerostomia, Urete...	OMIM:604292
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Renal insufficiency, Polyuria, Polyhydramnios, Edema, Renal salt wasting, Incre...	OMIM:613090
Hutchinson-Gilford Progeria Syndrome	Alopecia	OMIM:176670
Fleck Retina, Familial Benign	Nyctalopia, Visual impairment	OMIM:228980
Craniopharyngioma	Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu...	ORPHA:54595
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Retinal telangiectasia, Fine hair, Premature graying of hair, Nail dystrophy, Nail dysplasia, Thi...	OMIM:612199
Retinitis Pigmentosa 47	Nyctalopia, Visual impairment	OMIM:613758
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent respiratory infections, Recurrent herpes, Recurrent viral infections, Recurrent candida...	ORPHA:572
Frontonasal Dysplasia 2	Telecanthus, Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Bilateral cryptorchidism, Fine h...	OMIM:613451
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i...	OMIM:307200
Immunoglobulin A Vasculitis	Macule, Orchitis, Erythema, Skin ulcer, Infectious encephalitis, Purpura	ORPHA:761
Donohue Syndrome	Postnatal growth retardation, Ovarian cyst, Hyperkeratosis, Nail dysplasia, Acanthosis nigricans,...	OMIM:246200
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia	OMIM:607485
Estrogen Resistance	Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ...	OMIM:615363
Addison Disease	Hypoparathyroidism, Decreased circulating cortisol level, Primary testicular failure, Salt cravin...	ORPHA:85138
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypertriglyceridemia, Hypospadias, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Nail ...	OMIM:610644
Retinitis Pigmentosa 76	Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity	OMIM:617123
Mucopolysaccharidosis, Type Iiic	Hyperactivity, Heparan sulfate excretion in urine, Synophrys, Coarse hair, Dysphagia, Hirsutism, ...	OMIM:252930
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Absent lacrimal punctum, Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse eyebrow...	ORPHA:1071
Uremic Pruritus	Inflammatory abnormality of the skin, Recurrent skin infections, Pruritus, Dry skin, Generalized ...	ORPHA:94059
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Curly hair, Curly eyelashes, Multiple rows of eyelashes, Cryptorchidism, Low posterior hairline, ...	ORPHA:163654
Odontotrichoungual-Digital-Palmar Syndrome	Nail dystrophy, Nail dysplasia, Abnormality of hair texture	OMIM:601957
Cockayne Syndrome B	Reduced subcutaneous adipose tissue, Dry hair, Prematurely aged appearance, Progeroid facial appe...	OMIM:133540
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke...	OMIM:613736
Retinal Dystrophy With Or Without Extraocular Anomalies	Premature ovarian insufficiency, Reduced visual acuity, Secondary amenorrhea, Goiter	OMIM:617175
Chromosome Xp11.3 Deletion Syndrome	Moderate myopia, Constriction of peripheral visual field, Blindness, Short stature, Cryptorchidis...	OMIM:300578
Fundus Albipunctatus	Nyctalopia, Fundus albipunctatus	OMIM:136880
Cernunnos-Xlf Deficiency	Recurrent bacterial infections, Recurrent viral infections	ORPHA:169079
Retinitis Pigmentosa 69	Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity	OMIM:615780
Chime Syndrome	Epicanthus, Abnormality of the kidney, Erythema, Skin ulcer, Fine hair, Upslanted palpebral fissu...	ORPHA:3474
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Absence of Stensen duct, Decreased response to growth hormone stimulation test, Xerostomia, Urete...	OMIM:129900
Retinitis Pigmentosa 61	Nyctalopia, Visual impairment	OMIM:614180
Usher Syndrome	Myopia, Blindness, Nyctalopia, Decreased fertility, Hyperacusis, Visual field defect, Progressive...	ORPHA:886
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Blepharophimosis, Ptosis, Epicanthus, Fine hair	ORPHA:3236
Trichorhinophalangeal Syndrome, Type Iii	Sparse hair, Sparse lateral eyebrow	OMIM:190351
Chromosome 16Q12 Duplication Syndrome	Nyctalopia, Reduced visual acuity, High myopia, Photophobia, Paracentral scotoma, Tritanomaly	OMIM:619649
Retinitis Pigmentosa 30	Nyctalopia, Visual impairment	OMIM:607921
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Epicanthus, Impulsivity, Abnormality of hair texture, Hypophosphaturia, Thickened skin, Synophrys...	ORPHA:73223
Retinitis Pigmentosa 7	Nyctalopia, Constriction of peripheral visual field, Adult-onset night blindness	OMIM:608133
Cataract 2, Multiple Types	Photophobia, Visual impairment, Amblyopia	OMIM:604307
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Cryptorchidism, Patchy alopecia, Short stature, Decreased testicular size	ORPHA:85279
Psoriasis-Related Juvenile Idiopathic Arthritis	Anterior uveitis, Psoriasiform dermatitis, Psoriasiform lesion, Skin rash, Pruritus, Iridocycliti...	ORPHA:85436
Choroideremia	Nyctalopia, Constriction of peripheral visual field, Progressive visual loss, Visual impairment	OMIM:303100
Cone-Rod Dystrophy 2	Blindness, Metamorphopsia, Constriction of peripheral visual field, Central scotoma, Nyctalopia, ...	OMIM:120970
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Hyperechogenic kidneys	OMIM:613845
Encephalocraniocutaneous Lipomatosis	Alopecia, Cryptorchidism, Eyelid coloboma, Limbal dermoid, Subcutaneous lipoma	OMIM:613001
Noonan Syndrome 10	Curly hair, Epicanthus, Sparse eyebrow, Cryptorchidism, Increased nuchal translucency, Hyperkerat...	OMIM:616564
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Anorexia, Oral-pharyngeal dysphagia, Xerostomia, Gastrointestinal inflammation, Conjunctivitis, C...	ORPHA:95455
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Recurrent bacterial infections	OMIM:610738
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Alopecia, Decreased circulating cortisol level, Alopecia totalis, Decreased response to growth ho...	ORPHA:293978
Systemic Sclerosis	Alopecia, Nail bed telangiectasia, Cutaneous sclerotic plaque, Digital pitting scar, Spotty hypop...	ORPHA:90291
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Photophobia, Myopia, Nyctalopia, Visual loss	ORPHA:5
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal eyelid morphology, Uveitis, Hyperconvex fingernails, Conjunctivitis, Sparse hair, Abnorm...	ORPHA:2273
Bone Marrow Failure Syndrome 3	Myopia, Short stature, Eczema, Pancreatic steatosis, Cryptorchidism, Hypermetropia, Hyperkeratosi...	OMIM:617052
Werner Syndrome	Alopecia of scalp, Prematurely aged appearance, Progeroid facial appearance, Subcutaneous calcifi...	OMIM:277700
Infantile Neuronal Ceroid Lipofuscinosis	Visual loss, Blindness, Progressive visual field defects	ORPHA:79263
Oligomeganephronia	Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl...	ORPHA:2260
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infections, Pallor, ...	ORPHA:331206
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Sparse hair, Eczema, Hyperconvex nail	OMIM:619721
Chronic Actinic Dermatitis	Erythematous papule, Epidermal acanthosis, Hypopigmented skin patches	ORPHA:330064
Noonan Syndrome 2	Curly hair, Epicanthus, Polyhydramnios, Sparse eyebrow, Cryptorchidism, Increased nuchal transluc...	OMIM:605275
Retinitis Pigmentosa 54	Nyctalopia, Visual impairment	OMIM:613428
Cutis Laxa, Autosomal Recessive, Type Iib	Prominent superficial veins, Redundant skin, Lack of skin elasticity, Excessive wrinkled skin, Br...	OMIM:612940
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Urticarial plaque, Skin ulcer, Recurrent infections, Panniculitis, Recurrent sinusitis, Recurrent...	OMIM:615688
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen...	OMIM:266900
Hereditary Sensory And Autonomic Neuropathy Type 4	Nail-biting, Fasciitis, Osteomyelitis, Hyperactivity, Anhidrosis, Impulsivity, Chronic kidney dis...	ORPHA:642
Immunodeficiency With Hyper-Igm, Type 3	Recurrent bacterial infections	OMIM:606843
Bartter Syndrome, Type 3	Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,...	OMIM:607364
Focal Facial Dermal Dysplasia Type Iv	Abnormal epidermal morphology, Nevus	ORPHA:398189
Teratoma, Pineal	Polydipsia, Polyuria	OMIM:273120
Adult Idiopathic Neutropenia	Helicobacter pylori infection, Recurrent fungal infections, Recurrent bacterial infections, Recur...	ORPHA:2688
Retinitis Pigmentosa 90	Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity	OMIM:619007
Cockayne Syndrome	Reduced subcutaneous adipose tissue, Dry hair, Cryptorchidism, Fine hair, Keratoconjunctivitis si...	ORPHA:191
Mixed Connective Tissue Disease	Alopecia, Keratoconjunctivitis sicca, Skin rash, Purpura	ORPHA:809
Mucopolysaccharidosis, Type Iiia	Hyperactivity, Heparan sulfate excretion in urine, Synophrys, Coarse hair, Hirsutism	OMIM:252900
Retinitis Pigmentosa 81	Nyctalopia, Reduced visual acuity	OMIM:617871
Oculocerebral Hypopigmentation Syndrome, Preus Type	Photophobia, White hair, Short stature	ORPHA:2720
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Epicanthus, Hypospadias, Hydrops fetalis, Renal cyst, Fine hair, Renal hypoplasia, Nail dysplasia...	OMIM:614091
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Eczema, Erythroderma	OMIM:304790
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Curly hair, Epicanthus, Aggressive behavior, Almond-shaped palpebral fissure, Self-injurious beha...	OMIM:300986
Immunodeficiency 7	Recurrent respiratory infections, Severe varicella zoster infection, Persistent EBV viremia, Patc...	OMIM:615387
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Recurrent viral infections, Recurrent mycobacterial infectio...	ORPHA:911
Trichodermodysplasia-Dental Alterations Syndrome	Sparse scalp hair, Brittle hair, Fine hair, Sparse or absent eyelashes, Palmoplantar keratoderma,...	ORPHA:3353
Jalili Syndrome	Photophobia, Visual impairment, Color vision defect	ORPHA:1873
East Syndrome	Salt craving, Renal salt wasting, Renal magnesium wasting, Enuresis, Hyperaldosteronism, Abnormal...	ORPHA:199343
Resistance To Thyrotropin-Releasing Hormone Syndrome	Reduced circulating prolactin concentration, Pituitary hypothyroidism, Prolonged neonatal jaundic...	ORPHA:99832
Kanzaki Disease	Lymphedema, Increased urinary O-linked sialopeptides, Tortuosity of conjunctival vessels, Hyperke...	OMIM:609242
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Decreased response to growth hormone stimulation test, Diplopia, Pituitary adenoma, Pituitary hyp...	ORPHA:91354
Diarrhea 10, Protein-Losing Enteropathy Type	Hypertriglyceridemia, Polyuria, Polyhydramnios, Pericardial effusion, Cryptorchidism, Anasarca, P...	OMIM:618183
Proteasome-Associated Autoinflammatory Syndrome 2	Recurrent bacterial infections, Subcutaneous nodule, Annular cutaneous lesion, Recurrent viral in...	OMIM:618048
Malakoplakia	Papule, Subcutaneous nodule, Orchitis, Skin ulcer	ORPHA:556
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Nyctalopia, Reduced visual acuity	OMIM:610156
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Alopecia	OMIM:600142
Zttk Syndrome	Curly hair, Epicanthus, Absent gallbladder, Polyuria, Unilateral renal agenesis, Sparse eyebrow, ...	OMIM:617140
Retinitis Pigmentosa 33	Nyctalopia, Visual impairment	OMIM:610359
Nephrogenic Diabetes Insipidus	Hypernatremic dehydration, Renal insufficiency, Hydroureter, Polyhydramnios, Anorexia, Functional...	ORPHA:223
Pemphigus Erythematosus	Focal dermal aplasia/hypoplasia, Acantholysis, Localized skin lesion, Hypopigmented skin patches,...	ORPHA:79480
Cone-Rod Dystrophy 6	Nyctalopia, Reduced visual acuity, Peripheral visual field loss, Photophobia, Hemeralopia, Progre...	OMIM:601777
Oculocutaneous Albinism Type 2	Hypopigmentation of hair, White eyelashes, White eyebrow, White hair, Reduced visual acuity, Phot...	ORPHA:79432
Giant Axonal Neuropathy	Woolly hair, Abnormal pituitary gland morphology, Pili canaliculi	ORPHA:643
Retinitis Pigmentosa 70	Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity	OMIM:615922
Cushing Disease	Sparse scalp hair, Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Hirsutism, Skin ulc...	ORPHA:96253
Noonan Syndrome 7	Curly hair, Epicanthus, Low posterior hairline, Hyperhidrosis, Dysphagia, Impaired oropharyngeal ...	OMIM:613706
Immunodeficiency, Common Variable, 13	Recurrent bacterial infections	OMIM:616873
X-Linked Severe Congenital Neutropenia	Recurrent bacterial infections	ORPHA:86788
Retinitis Pigmentosa 38	Nyctalopia, Constriction of peripheral visual field, Progressive visual loss	OMIM:613862
Fibrodysplasia Ossificans Progressiva	Alopecia	OMIM:135100
Down Syndrome	Upslanted palpebral fissure, Epicanthus, Prematurely aged appearance, Sparse hair	ORPHA:870
Trichorhinophalangeal Syndrome Type 1	Sparse eyelashes, Sparse eyebrow, Leukonychia, Sparse hair, Fragile nails	ORPHA:77258
Familial Hyperaldosteronism Type Iii	Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Hypercalciuria, Dexam...	ORPHA:251274
Cockayne Syndrome A	Reduced subcutaneous adipose tissue, Dry hair, Prematurely aged appearance, Progeroid facial appe...	OMIM:216400
Hermansky-Pudlak Syndrome 7	Menorrhagia, Reduced visual acuity, Visual impairment, Albinism	OMIM:614076
Jaberi-Elahi Syndrome	Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair	OMIM:617988
Night Blindness, Congenital Stationary, Type 1F	Congenital stationary night blindness, Nyctalopia, Reduced visual acuity, High myopia	OMIM:615058
Arima Syndrome	Ptosis, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary ...	OMIM:243910
Babesiosis	Photophobia	ORPHA:108
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Decreased testicular size, Sparse body hair	ORPHA:2234
Macrocephaly/Autism Syndrome	Epicanthus, Penile freckling, Cutis laxa, Hydrocele testis, Coarse hair, Recurrent otitis media	OMIM:605309
Ruijs-Aalfs Syndrome	Premature graying of hair, Sparse hair	OMIM:616200
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Alopecia, Acne, Short stature, Irregular menstruation, Testicular adrenal rest tumor, Polycystic ...	ORPHA:90795
Familial Drusen	Photophobia, Visual loss, Metamorphopsia, Paracentral scotoma	ORPHA:75376
Cholestasis, Progressive Familial Intrahepatic, 5	Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, J...	OMIM:617049
Leber Congenital Amaurosis 15	Myopia, Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Hypermetropia...	OMIM:613843
Usher Syndrome, Type Iid	Nyctalopia	OMIM:611383
Chediak-Higashi Syndrome	Recurrent bacterial skin infections, Hypopigmentation of hair, Silver-gray hair, Reduced visual a...	OMIM:214500
Chondrodysplasia Punctata, Autosomal Dominant	Sparse hair, Hyperkeratosis with erythema, Coarse hair	OMIM:118650
Hartnup Disease	Abnormality of vision, Photophobia, Skin rash, Short stature	ORPHA:2116
Parkes Weber Syndrome	Erythematous plaque, Capillary malformation, Scaling skin, Skin ulcer	ORPHA:90307
Trichorhinophalangeal Syndrome, Type I	Slow-growing hair, Thin nail, Concave nail, Leukonychia, Fine hair, Thin eyebrow, Sparse hair, Sp...	OMIM:190350
Celiac Disease, Susceptibility To, 1	Alopecia, Short stature, Eczema, Postnatal growth retardation, Infertility, Delayed puberty	OMIM:212750
Corneal Dystrophy, Reis-Bucklers Type	Photophobia, Reduced visual acuity	OMIM:608470
Dyskeratosis Congenita, Digenic	Alopecia, Sparse eyelashes, Bilateral ptosis, Nail dystrophy, Decreased testicular size	OMIM:620040
Pseudohypoparathyroidism Type 1C	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci...	ORPHA:79444
Gitelman Syndrome	Salt craving, Polyuria, Renal magnesium wasting, Enuresis, Hypocalciuria, Polydipsia, Nocturia, R...	OMIM:263800
Cone-Rod Dystrophy 8	Photophobia, Blindness, Peripheral visual field loss, Nyctalopia	OMIM:605549
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Adrenal hyperplasia, Nephrolithiasis, Hyperaldosteronism, Dexamethasone-suppressible primary hype...	ORPHA:369929
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper...	OMIM:619326
Nephronophthisis 15	Blindness	OMIM:614845
Noonan Syndrome 9	Curly hair, Hydroureter, Sparse eyebrow, Cryptorchidism, Downslanted palpebral fissures, Ptosis	OMIM:616559
Selective Igm Deficiency	Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infection, Sepsis,...	ORPHA:331235
Arthrogryposis Multiplex Congenita 5	Upslanted palpebral fissure, Premature skin wrinkling, Ptosis	OMIM:618947
Senior-Boichis Syndrome	Polydipsia, Thickening of the tubular basement membrane, Aggressive behavior, Chronic kidney dise...	ORPHA:84081
Hermansky-Pudlak Syndrome 3	Hypopigmentation of hair, Reduced visual acuity, Visual impairment, Albinism	OMIM:614072
Immunodeficiency 55	Dry skin, Ichthyosis	OMIM:617827
Monosomy 22	Epicanthus, Aplasia of the thymus, Seborrheic dermatitis, Thickened skin, Synophrys, Hyperhidrosi...	ORPHA:96123
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Visual loss, Blindness, Progressive visual loss, Visual impairment	OMIM:601338
Cone-Rod Dystrophy 10	Photophobia, Nyctalopia, Progressive visual loss, Peripheral visual field loss	OMIM:610283
Adams-Oliver Syndrome	Alopecia, Cutis marmorata, Aplastic/hypoplastic toenail, Absent fingernail, Sparse hair, Hypoplas...	ORPHA:974
Chromosome Xq21 Deletion Syndrome	Nyctalopia, Constriction of peripheral visual field, Progressive visual loss	OMIM:303110
Aredyld Syndrome	Upslanted palpebral fissure, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:1133
Warty Dyskeratoma	Abnormal fingernail morphology, Acrokeratosis, Umbilicated nodule, Skin-colored papule, Acantholy...	ORPHA:69745
Premature Aging Syndrome, Penttinen Type	Prominent superficial veins, Prematurely aged appearance, Palmoplantar hyperkeratosis, Hyperkerat...	OMIM:601812
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Skin rash, Prematurely aged appearance, Urticaria, Cutaneous photosensitivity, Dry skin	ORPHA:220295
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Nail dystrophy, Nail dysplasia	OMIM:175500
Retinitis Pigmentosa	Nyctalopia, Constriction of peripheral visual field	OMIM:268000
Estrogen Resistance Syndrome	Abnormality of the pubic hair, Enlarged polycystic ovaries, Increased circulating gonadotropin le...	ORPHA:785
Holocarboxylase Synthetase Deficiency	Alopecia, Skin rash	OMIM:253270
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Blindness, Hypoplastic toenails, Low anterior hairline, High myopia, Anonychia, Hypoplastic finge...	OMIM:220500
Retinitis Pigmentosa 25	Photophobia, Nyctalopia, Constriction of peripheral visual field	OMIM:602772
Joubert Syndrome 35	Synophrys, Progressive visual loss, Highly arched eyebrow, Nyctalopia	OMIM:618161
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Myopia, Follicular hyperkeratosis	ORPHA:300179
Alg11-Cdg	Dry skin	ORPHA:280071
Nablus Mask-Like Facial Syndrome	Telecanthus, Sparse eyelashes, Highly arched eyebrow, Absent eyelashes, Sparse eyebrow, Cryptorch...	OMIM:608156
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Abnormal response to glucagon stimulation test...	ORPHA:79644
Erdheim-Chester Disease	Renal insufficiency, Osteomyelitis, Skin rash, Dysuria, Polydipsia, Hyperhidrosis, Xanthelasma, J...	ORPHA:35687
Noonan Syndrome 1	Epicanthus, Cryptorchidism, Low posterior hairline, Webbed neck, Woolly hair, Dry skin, Downslant...	OMIM:163950
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Nephrocalcinosis, Polyuria	OMIM:620152
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Blindness, Small nail	OMIM:618731
Onychotrichodysplasia And Neutropenia	Curly hair, Chronic irritative conjunctivitis, Curly eyelashes, Concave nail, Sparse pubic hair, ...	OMIM:258360
Cohen Syndrome	Myopia, Thick eyebrow, Short stature, Decreased response to growth hormone stimulation test, Nyct...	OMIM:216550
Johanson-Blizzard Syndrome	Absent lacrimal punctum, Alopecia, Abnormal hair pattern	ORPHA:2315
Isolated Succinate-Coq Reductase Deficiency	Blindness, Severe short stature, Proportionate short stature, Reduced visual acuity, Intrauterine...	ORPHA:3208
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Renal hypoplasia, Renal cyst...	OMIM:210710
Noonan Syndrome 4	Curly hair, Epicanthus, Ureteral duplication, Polyhydramnios, Sparse eyebrow, Cryptorchidism, Bil...	OMIM:610733
Usher Syndrome, Type Iv	Nyctalopia, Constriction of peripheral visual field, Ring scotoma	OMIM:618144
Gitelman Syndrome	Neoplasm of the pancreas, Salt craving, Proteinuria, Urinary incontinence, Decreased urinary pota...	ORPHA:358
Hereditary Central Diabetes Insipidus	Polydipsia	ORPHA:30925
Vernal Keratoconjunctivitis	Pruritus, Photophobia	ORPHA:70476
Acquired Generalized Lipodystrophy	Hypertriglyceridemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, ...	ORPHA:79086
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Brittle hair, Polyhydramnios, Sparse eyebrow, Hydrocele testis, Hypocholesterolemia, Micropenis	OMIM:618810
Omenn Syndrome	Alopecia, Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infections...	OMIM:603554
Familial Hyperaldosteronism Type I	Polydipsia, Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism	ORPHA:403
Intellectual Developmental Disorder, Autosomal Dominant 66	Sparse hair	OMIM:619910
Infantile Liver Failure Syndrome 2	Elevated hepatic transaminase, Jaundice, Hypoglycemia, Acute hepatic failure	OMIM:616483
Whipple Disease	Myositis, Pericarditis, Anorexia, Myocarditis, Uveitis, Pedal edema, Arthritis, Polydipsia, Infec...	ORPHA:3452
Congenital Isolated Acth Deficiency	Decreased circulating cortisol level, Hepatitis, Hypoglycemic seizures, Prolonged neonatal jaundi...	ORPHA:199296
Classical-Like Ehlers-Danlos Syndrome Type 2	Alopecia, Redundant skin, Bilateral ptosis, Cryptorchidism, Prominent veins on trunk, Keratoconju...	ORPHA:536532
Late-Onset Isolated Acth Deficiency	Hypoparathyroidism, Decreased circulating cortisol level, Anorexia, Pituitary adenoma, Adrenocort...	ORPHA:199299
Complement Component 5 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:609536
Hermansky-Pudlak Syndrome 4	Menorrhagia, Reduced visual acuity, Albinism	OMIM:614073
Seckel Syndrome	Sparse scalp hair, Downslanted palpebral fissures, Prematurely aged appearance	ORPHA:808
Oculodentodigital Dysplasia, Autosomal Recessive	Telecanthus, Epicanthus, Sparse eyelashes, Fine hair, Sparse hair, Downslanted palpebral fissures...	OMIM:257850
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Downslanted palpebral fissures, Sparse body hair, Ptosis	ORPHA:3068
Atypical Werner Syndrome	Abnormal hair whorl, Premature graying of hair, Alopecia, Prematurely aged appearance, Lack of sk...	ORPHA:79474
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Nail pits, Premature graying of hair, Nail dystrophy, Sparse hair	OMIM:127550
Bainbridge-Ropers Syndrome	Epicanthus, Highly arched eyebrow, Supernumerary nipple, Polyhydramnios, Cryptorchidism, Synophry...	OMIM:615485
Cerebrooculonasal Syndrome	Sparse eyebrow, Blindness, Sparse eyelashes	ORPHA:66625
Isolated Atp Synthase Deficiency	Blindness, Hypogonadism, Short stature	ORPHA:254913
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Nyctalopia, Constriction of peripheral visual field, Hypermetropia	OMIM:267760
Isolated Thyroid-Stimulating Hormone Deficiency	Facial edema, Pituitary hypothyroidism, Attention deficit hyperactivity disorder, Macroorchidism,...	ORPHA:90674
Idiopathic Panuveitis	Blindness, Vitreous floaters, Reduced visual acuity, Abnormality of vision, Photophobia, Blurred ...	ORPHA:280921
Neuropathy, Hereditary Sensory, Type If	Hyperkeratosis, Osteomyelitis	OMIM:615632
Paternal Uniparental Disomy Of Chromosome 1	Polyphagia, Abnormal dental enamel morphology, Delayed puberty	ORPHA:251004
Mitochondrial Complex I Deficiency, Nuclear Type 4	Blindness	OMIM:618225
Copper Deficiency, Familial Benign	Curly hair, Early balding, Seborrheic dermatitis	OMIM:121270
Hermansky-Pudlak Syndrome 2	Albinism, Reduced visual acuity, Photophobia, Chronic oral candidiasis, Fair hair	OMIM:608233
Rothmund-Thomson Syndrome	Plantar hyperkeratosis, Porokeratosis, Skin rash, Sparse eyelashes, Alopecia totalis, Short statu...	ORPHA:2909
Pachyonychia Congenita 3	Chapped lip, Plantar hyperkeratosis, Onychogryposis of toenails, Hyperhidrosis, Palmoplantar kera...	OMIM:615726
Reactive Arthritis	Pericarditis, Osteomyelitis, Recurrent urinary tract infections, Pustule, Enthesitis, Hyperkerato...	ORPHA:29207
Catastrophic Antiphospholipid Syndrome	Skin ulcer	ORPHA:464343
Insulin-Resistance Syndrome Type B	Fasting hyperinsulinemia, Glucose intolerance, Fasting hypoglycemia, Hyperglycemia, Abnormal sali...	ORPHA:2298
Pancreatic Agenesis 2	Diabetes mellitus, Small for gestational age, Pancreatic aplasia, Steatorrhea, Pancreatic hypopla...	OMIM:615935
Pseudohypoparathyroidism Type 1A	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci...	ORPHA:79443
Osteoporosis-Pseudoglioma Syndrome	Short stature, Moderately reduced visual acuity, Visual acuity light perception with projection, ...	ORPHA:2788
Leukonychia Totalis	Abnormal fingernail morphology, Abnormal eyelash morphology, Photophobia, Adenoma sebaceum, Abnor...	ORPHA:2387
Porphyria, Congenital Erythropoietic	Absent eyebrow, Alopecia, Jaundice, Loss of eyelashes, Conjunctivitis, Cholelithiasis, Cutaneous ...	OMIM:263700
Retinitis Pigmentosa 28	Nyctalopia, Constriction of peripheral visual field	OMIM:606068
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Nyctalopia, Short stature	OMIM:616108
Bardet-Biedl Syndrome 21	Myopia, Blindness, Constriction of peripheral visual field	OMIM:617406
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Sparse eyelashes, Sparse eyebrow, Small nail, Sparse hair, High anterior hairline, Downslanted pa...	OMIM:250410
Bothnia Retinal Dystrophy	Nyctalopia	OMIM:607475
Retinitis Pigmentosa 71	Nyctalopia	OMIM:616394
Chand Syndrome	Curly hair, Nail dysplasia, Ankyloblepharon	OMIM:214350
Brachycephaly, Trichomegaly, And Developmental Delay	Epicanthus, Brittle hair, Highly arched eyebrow, Synophrys, Long eyelashes, Thick eyebrow	OMIM:617412
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Hyperparathyroidism, Polyuria, Polyhydramnios, Renal salt wasting, Increased ur...	OMIM:601678
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, He...	ORPHA:264580
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Reduced subcutaneous adipose tissue, Curly hair, Epicanthus, Macroorchidism, Prematurely aged app...	OMIM:619950
Alpers-Huttenlocher Syndrome	Abnormality of vision, Blindness	ORPHA:726
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Sparse hair, Cutis laxa, Dermal translucency	OMIM:615349
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Acral ulceration	OMIM:256840
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Excessive wrinkled skin, Ovarian neoplasm	ORPHA:137608
2P15P16.1 Microdeletion Syndrome	Epicanthus, Telecanthus, Multicystic kidney dysplasia, Supernumerary nipple, Polyhydramnios, Spar...	ORPHA:261349
Gelatinous Drop-Like Corneal Dystrophy	Photophobia, Reduced visual acuity, Blurred vision	ORPHA:98957
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Recurrent respiratory infections, Recurrent urinary tract infections, Recurrent herpes, Recurrent...	ORPHA:183675
Infantile Refsum Disease	Constriction of peripheral visual field, Short stature, Nyctalopia, Ichthyosis, Visual impairment	ORPHA:772
Neutropenia, Severe Congenital, X-Linked	Recurrent bacterial infections	OMIM:300299
Chronic Graft Versus Host Disease	Alopecia, Erythema, Xerostomia, Intermittent generalized erythematous papular rash, Skin ulcer, R...	ORPHA:99921
Retinitis Pigmentosa 40	Nyctalopia	OMIM:613801
Ogden Syndrome	Cryptorchidism, Fine hair, Cutis laxa, Downslanted palpebral fissures, Aplasia/Hypoplasia of the ...	ORPHA:276432
Retinitis Pigmentosa 9	Nyctalopia, Constriction of peripheral visual field	OMIM:180104
Mogs-Cdg	Alopecia, Hydrocele testis, Long eyelashes, Fair hair, Short palpebral fissure, Hirsutism	ORPHA:79330
Congenital Bile Acid Synthesis Defect Type 1	Pruritus, Nyctalopia	ORPHA:79301
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis, Erythroderma	OMIM:136630
Boutonneuse Fever	Skin rash, Photophobia, Maculopapular exanthema	ORPHA:83313
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Polyuria, Polyhydramnios, Renal salt wasting, Increased urinary potassium, Hype...	OMIM:241200
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Hypoglycemia	OMIM:201450
Complement Factor I Deficiency	Recurrent urinary tract infections, Recurrent Haemophilus influenzae infections, Recurrent mening...	OMIM:610984
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Recurrent bacterial infections	OMIM:202700
Pseudoxanthoma Elasticum	Acne, Skin rash, Telangiectasia of the skin, Pruritus, Lack of skin elasticity, Excessive wrinkle...	ORPHA:758
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Congenital blindness, Severe short-limb dwarfism	ORPHA:436182
Scalp-Ear-Nipple Syndrome	Ureteral duplication, Telecanthus, Recurrent urinary tract infections, Palpebral edema, Abnormal ...	ORPHA:2036
Gm1 Gangliosidosis	Blindness, Short stature, Thickened skin, Generalized hirsutism, Hirsutism	ORPHA:354
Lymphatic Malformation 12	Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Fetal ascites, Hydrocele testis, Hyperkera...	OMIM:620014
Ritscher-Schinzel Syndrome 4	Curly hair, Impulsivity, Aggressive behavior, Cryptorchidism, Downslanted palpebral fissures, Dys...	OMIM:619435
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Large for gestation...	OMIM:616026
Pediatric Systemic Lupus Erythematosus	Discoid lupus rash, Alopecia, Malar rash, Skin rash	ORPHA:93552
Primary Sjögren Syndrome	Myositis, Chronic active hepatitis, Renal insufficiency, Glomerulonephritis, Lymphocytic intersti...	ORPHA:289390
Retinal Arteries, Tortuosity Of	Photophobia, Visual loss	OMIM:180000
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Aggressive behavior, Synophrys, Fine hair, Upslanted palpebral fissure, Long eyelashes, Downslant...	OMIM:620250
Seckel Syndrome 10	Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Elevated circulating aspartate amino...	OMIM:617253
Chiari Malformation Type I	Photophobia, Diplopia, Hyperacusis	OMIM:118420
Fetal Hydantoin Syndrome	Epicanthus, Hypoplastic fingernail, Cryptorchidism, Low posterior hairline, Coarse hair, Ptosis	ORPHA:1912
Retinitis Pigmentosa 50	Nyctalopia, Reduced visual acuity	OMIM:613194
Retinitis Punctata Albescens	Central scotoma, Nyctalopia, Progressive visual field defects, Peripheral visual field loss, Phot...	ORPHA:52427
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, Highly arched eyebrow, Female infertility, Sparse pubic hair, In...	OMIM:110100
Behr Syndrome	Blindness, Progressive visual loss, Visual impairment	OMIM:210000
Hawkinsinuria	Restlessness, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Hawkinsinuria, Spa...	OMIM:140350
Reticular Dystrophy Of Retinal Pigment Epithelium	Nyctalopia	OMIM:179840
Keppen-Lubinsky Syndrome	Premature skin wrinkling, Decreased testicular size, Progeroid facial appearance, Shallow orbits	ORPHA:435628
Lymphedema-Distichiasis Syndrome	Photophobia, Distichiasis, Recurrent skin infections	ORPHA:33001
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Alopecia, Seborrheic dermatitis	OMIM:210210
Usher Syndrome, Type 1M	Nyctalopia	OMIM:618632
Rothmund-Thomson Syndrome Type 1	Plantar hyperkeratosis, Porokeratosis, Alopecia totalis, Facial edema, Cryptorchidism, Facial ery...	ORPHA:221008
Immunoneurologic Disorder, X-Linked	Nyctalopia	OMIM:300076
Hypocalcemic Vitamin D-Resistant Rickets	Alopecia, Hyperparathyroidism	ORPHA:93160
Hamamy Syndrome	Hypoparathyroidism, Telecanthus, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Neck pterygia,...	OMIM:611174
Neutral Lipid Storage Disease With Ichthyosis	Alopecia, Ectropion, Ptosis	ORPHA:98907
Hall-Riggs Syndrome	Epicanthus, Coarse hair, Slow-growing hair, Thick hair	ORPHA:2107
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Nail-biting, Epicanthus, Telecanthus, Aggressive behavior, Hair-pulling, Polyphagia, Upslanted pa...	OMIM:620330
Apparent Mineralocorticoid Excess	Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Abnormality of circul...	ORPHA:320
Behcet Syndrome	Erythema nodosum, Erythema, Patchy alopecia	OMIM:109650
Dermatosparaxis Ehlers-Danlos Syndrome	Excessive wrinkled skin, Epicanthus, Abnormality of subcutaneous fat tissue, Thin skin	ORPHA:1901
Microphthalmia-Brain Atrophy Syndrome	Blindness	ORPHA:77299
Trichorhinophalangeal Syndrome, Type Ii	Sparse scalp hair, Chronic gastritis, Bilateral cryptorchidism, Redundant skin in infancy, Recurr...	OMIM:150230
Hermansky-Pudlak Syndrome 5	Menorrhagia, Metrorrhagia, Reduced visual acuity, Albinism	OMIM:614074
Juvenile Neuronal Ceroid Lipofuscinosis	Visual loss, Large central visual field defect, Blindness	ORPHA:79264
Late-Onset Retinal Degeneration	Red-green dyschromatopsia, Visual loss, Nyctalopia, Photophobia, Abnormal best corrected visual a...	ORPHA:67042
Glass Syndrome	Long eyelashes, Thin skin, Nail dysplasia, Sparse hair, Downslanted palpebral fissures	OMIM:612313
Glucocorticoid Resistance, Generalized	Irregular menstruation, Infertility, Hirsutism	OMIM:615962
Schimmelpenning-Feuerstein-Mims Syndrome	Growth delay, Alopecia, Short stature, Ichthyosis	OMIM:163200
Trisomy 20P	Epicanthus, Hypospadias, Thick hair, Highly arched eyebrow, Blepharophimosis, Abnormality of the ...	ORPHA:261318
Dyskeratosis, Hereditary Benign Intraepithelial	Photophobia, Visual impairment	OMIM:127600
Autosomal Dominant Cutis Laxa	Ptosis, Redundant neck skin, Prematurely aged appearance, Redundant skin, Cutis laxa, Premature s...	ORPHA:90348
Multiple Sulfatase Deficiency	Coarse hair, Mucopolysacchariduria, Thick eyebrow, Ichthyosis	ORPHA:585
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Myopia, Short stature, Postnatal growth retardation, Reduced visual acuity, Hypermetropia, Fine h...	OMIM:614800
Gyrate Atrophy Of Choroid And Retina	Myopia, Blindness, Visual impairment, Nyctalopia	OMIM:258870
X-Linked Immunoneurologic Disorder	Nyctalopia	ORPHA:2571
Amoebiasis Due To Free-Living Amoebae	Unusual skin infection, Subcutaneous nodule, Skin ulcer, Infectious encephalitis, Papule	ORPHA:68
Cockayne Syndrome Type 1	Postnatal growth retardation, Cryptorchidism, Photophobia, Male hypogonadism, Visual impairment	ORPHA:90321
Wiskott-Aldrich Syndrome	Recurrent respiratory infections, Sepsis, Skin ulcer, Hypoplasia of the thymus, Meningitis, Petec...	ORPHA:906
Kikuchi-Fujimoto Disease	Alopecia, Palpebral edema, Skin rash, Pustule, Pruritus, Erythema, Enlargement of parotid gland, ...	ORPHA:50918
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Hypoglycemia	OMIM:618838
Albinism, Ocular, Type I	Photophobia, Reduced visual acuity	OMIM:300500
Mucopolysaccharidosis, Type Iiid	Restlessness, Hyperactivity, Aggressive behavior, Heparan sulfate excretion in urine, Synophrys, ...	OMIM:252940
Oculocutaneous Albinism Type 5	Photophobia, Reduced visual acuity	ORPHA:370091
Mucolipidosis Type Iv	Photophobia, Palmoplantar keratoderma	ORPHA:578
Basel-Vanagaite-Smirin-Yosef Syndrome	Sparse hair, Epicanthus, Downslanted palpebral fissures, Ptosis	OMIM:616449
Stevens-Johnson Syndrome	Renal insufficiency, Entropion, Dysuria, Acantholysis, Abnormality of the urethra, Erythema, Conj...	ORPHA:36426
Biotinidase Deficiency	Skin rash, Alopecia, Eczematoid dermatitis, Conjunctivitis	ORPHA:79241
Goldberg-Shprintzen Syndrome	Telecanthus, Highly arched eyebrow, Synophrys, Sparse hair, Downslanted palpebral fissures, Thick...	OMIM:609460
Granulomatosis With Polyangiitis	Recurrent respiratory infections, Prostatitis, Skin ulcer, Meningitis, Pancreatitis, Papule, Purpura	ORPHA:900
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, A...	ORPHA:93111
Hallermann-Streiff Syndrome	Myopia, Alopecia, Sparse eyelashes, Proportionate short stature, Abnormality of hair texture, Spa...	ORPHA:2108
Paroxysmal Hemicrania	Photophobia, Phonophobia	ORPHA:157835
Mednik Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:171851
Cartilage-Hair Hypoplasia	Sparse eyelashes, Sparse facial hair, Sparse eyebrow, Fine hair, Sparse hair, Fair hair	OMIM:250250
Retinitis Pigmentosa 12	High hypermetropia, Nyctalopia, Reduced visual acuity	OMIM:600105
Bartter Syndrome, Type 5, Antenatal, Transient	Hypercalciuria, Medullary nephrocalcinosis, Polyuria, Polyhydramnios	OMIM:300971
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Epicanthus, Poor wound healing, Excessive wrinkled skin, Thin skin, Follicular hyperkeratosis, Pa...	OMIM:225400
Juvenile Nephropathic Cystinosis	Renal insufficiency, Proteinuria, Chronic kidney disease, Abnormal urine potassium concentration,...	ORPHA:411634
Kaufman Oculocerebrofacial Syndrome	Epicanthus, Telecanthus, Sparse eyebrow, Upslanted palpebral fissure, Sparse hair, Thin skin, Ble...	OMIM:244450
Congenital Disorder Of Glycosylation, Type Iia	Aggressive behavior, Abnormal repetitive mannerisms, Hirsutism, Stereotypical hand wringing, Long...	OMIM:212066
Peroxisome Biogenesis Disorder 9B	Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity, Ichthyosis	OMIM:614879
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatic adenocarcinoma, Renal insufficiency, Polydipsia, Renal hamartoma, Testicular neoplasm,...	ORPHA:99880
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Alopecia, Psoriasiform dermatitis, Recurrent skin infections, Eczema, Inflammatory abnormality of...	ORPHA:37042
Hermansky-Pudlak Syndrome 8	Myopia, Albinism, Silver-gray hair, Moderate hypermetropia, Reduced visual acuity, Hypermetropia,...	OMIM:614077
Distal Renal Tubular Acidosis	Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Dehydration, Nephrocalcinosis, Hy...	ORPHA:18
Immunodeficiency 23	Recurrent respiratory infections, Recurrent staphylococcal infections, Severe varicella zoster in...	OMIM:615816
Trichohepatoneurodevelopmental Syndrome	Curly hair, Epicanthus, Ectropion, Polyhydramnios, Almond-shaped palpebral fissure, Pruritus, Syn...	OMIM:618268
Galloway-Mowat Syndrome 9	Diffuse mesangial sclerosis, Almond-shaped palpebral fissure, Stage 5 chronic kidney disease, Foc...	OMIM:619603
Gm1 Gangliosidosis Type 1	Thickened skin, Blindness, Hirsutism, Intrauterine growth retardation	ORPHA:79255
Ocular Albinism With Late-Onset Sensorineural Deafness	Photophobia, Visual impairment	ORPHA:1000
Congenital Microcoria	Blindness, Axial myopia, Nyctalopia, Photophobia, Hemeralopia, Visual impairment, Blurred vision	ORPHA:566
Pyruvate Dehydrogenase E1-Alpha Deficiency	Intrauterine growth retardation, Blindness	ORPHA:79243
Xfe Progeroid Syndrome	Ascites, Renal insufficiency, Dry skin, Proteinuria	OMIM:610965
Osteogenesis Imperfecta, Type Xx	Sparse hair, Highly arched eyebrow, Sparse lateral eyebrow	OMIM:618644
Mosaic Variegated Aneuploidy Syndrome 2	Epicanthus, Decreased response to growth hormone stimulation test, Sparse hair, Blepharophimosis,...	OMIM:614114
Wrinkly Skin Syndrome	Epicanthus, Cryptorchidism, Excessive skin wrinkling on dorsum of hands and fingers, Prominent ve...	ORPHA:2834
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Portal hypertension...	OMIM:251880
Linear Nevus Sebaceus Syndrome	Alopecia, Telecanthus, Adenoma sebaceum	ORPHA:2612
Sympathetic Ophthalmia	Alopecia, Vitreous floaters, Poliosis, Reduced visual acuity, Photophobia	ORPHA:79098
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Renal insufficiency, Polydipsia, Renal hamartoma, Testicular neoplasm,...	ORPHA:143
Adenine Phosphoribosyltransferase Deficiency	Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis...	ORPHA:976
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Blindness	OMIM:250940
Oculodentodigital Dysplasia	Curly hair, Epicanthus, Brittle hair, Slow-growing hair, Abnormal fingernail morphology, Neurogen...	ORPHA:2710
Primary Unilateral Adrenal Hyperplasia	Glucocortocoid-insensitive primary hyperaldosteronism, Polydipsia, Adrenal hyperplasia, Increased...	ORPHA:231580
Retinitis Pigmentosa 6	Nyctalopia, Constriction of peripheral visual field	OMIM:312612
Distal Deletion 19P	Alopecia, Thick eyebrow	ORPHA:96129
Solitary Fibrous Tumor	Recurrent hypoglycemia, Hypoglycemia, Hypoinsulinemia	ORPHA:2126
Orthostatic Hypotension 2	Hypoglycemia	OMIM:618182
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Decreased circulating cortisol level, Failure to thrive, Hypoglycemia	OMIM:614736
Vitamin D-Dependent Rickets, Type 2A	Epicanthus, Secondary hyperparathyroidism, Alopecia universalis	OMIM:277440
Postorgasmic Illness Syndrome	Photophobia, Blurred vision	ORPHA:279947
Cancer-Associated Retinopathy	Neoplasm of the pancreas, Pancreatic adenocarcinoma, Constriction of peripheral visual field, Pho...	ORPHA:71505
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Curly hair, Hyperactivity, Hypospadias, Cryptorchidism, Downslanted palpebral fissures	ORPHA:457485
Mirage Syndrome	Recurrent urinary tract infections, Cryptorchidism, Sepsis, Recurrent bacterial infections, Adren...	OMIM:617053
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Hypohidrosis, Hyperkeratosis, Dysphagia, High anterior hairline, Ptosis	OMIM:615510
Autoimmune Polyendocrine Syndrome, Type Ii	Alopecia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis	OMIM:269200
Achromatopsia 2	Nyctalopia, Reduced visual acuity, Photophobia, Hemeralopia, Achromatopsia	OMIM:216900
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Epicanthus, Chalazion, Aggressive behavior	OMIM:613355
Sialidosis Type 1	Hyperkeratosis, Short stature, Progressive visual loss, Visual impairment	ORPHA:812
Cerebrofaciothoracic Dysplasia	Epicanthus, Abnormal hair pattern, Polyhydramnios, Synophrys, Low posterior hairline, Coarse hair...	ORPHA:1394
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Sparse eyebrow, Photophobia, Trichiasis, Thin eyebrow	OMIM:609944
Lattice Corneal Dystrophy Type I	Photophobia, Visual loss, High myopia, Slow decrease in visual acuity	ORPHA:98964
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Cryptorchidism, Abnormal posturing, Homocystinuria, Methylmalonic aciduria	OMIM:614857
Posterior Polymorphous Corneal Dystrophy	Very low visual acuity, Amblyopia, Reduced visual acuity, Photophobia, Blurred vision	ORPHA:98973
Rothmund-Thomson Syndrome Type 2	Plantar hyperkeratosis, Porokeratosis, Alopecia totalis, Facial edema, Cryptorchidism, Erythema, ...	ORPHA:221016
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa	Nyctalopia	ORPHA:436274
Spinocerebellar Ataxia-Dysmorphism Syndrome	Epicanthus, Coarse hair, Ptosis	ORPHA:1185
Immunodeficiency 67	Recurrent streptococcal infections, Recurrent staphylococcal infections	OMIM:607676
Lujo Hemorrhagic Fever	Generalized edema, Renal insufficiency, Maculopapular exanthema, Skin rash, Facial edema, Myocard...	ORPHA:319213
Gray Platelet Syndrome	Abnormality of the menstrual cycle	ORPHA:721
Combined Immunodeficiency-Enteropathy Spectrum	Absent eyebrow, Psoriasiform dermatitis, Hypoplasia of the thymus, Nail dystrophy, Sparse hair, A...	ORPHA:436252
Meningococcal Meningitis	Photophobia, Skin rash	ORPHA:33475
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Blindness	OMIM:614514
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Epicanthus, Highly arched eyebrow, Cryptorchidism, Low posterior hairline, Fine hair, Webbed neck...	OMIM:613563
Huntington Disease-Like 1	Restlessness, Abnormal posturing	ORPHA:157941
Methanol Poisoning	Blindness, Visual impairment, Blurred vision	ORPHA:31825
Renal Hypoplasia, Bilateral	Proteinuria, Edema, Cryptorchidism, Chronic kidney disease, Renal hypoplasia, Renal cyst, Oliguri...	ORPHA:97362
Phosphoribosylpyrophosphate Synthetase Superactivity	Epicanthus, Renal insufficiency, Hypospadias, Cryptorchidism, Urolithiasis, Gout, Hyperuricosuria...	OMIM:300661
Lipodystrophy, Congenital Generalized, Type 4	Hypertriglyceridemia, Lipodystrophy, Insulin resistance, Flexion contracture, Hyperinsulinemia, D...	OMIM:613327
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc...	OMIM:233710
1P36 Deletion Syndrome	Abnormal eyebrow morphology, Epicanthus, Camptodactyly of finger, Cryptorchidism, Hypothyroidism,...	ORPHA:1606
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hyperkeratosis, Cerebral visual impairment	ORPHA:79279
Posterior Column Ataxia With Retinitis Pigmentosa	Blindness, Ring scotoma, Nyctalopia	OMIM:609033
Epithelial Recurrent Erosion Dystrophy	Photophobia, Progressive visual loss, Blurred vision	ORPHA:293381
Lyme Disease	Photophobia, Amaurosis fugax	ORPHA:91546
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Myopia, Blindness	OMIM:615181
Scrub Typhus	Photophobia, Skin rash	ORPHA:83317
White-Sutton Syndrome	Duplicated collecting system, Hyperactivity, Aggressive behavior, Abnormal repetitive mannerisms,...	OMIM:616364
Chromosome 1P36 Deletion Syndrome, Distal	Epicanthus, Abnormality of the hairline, Camptodactyly of finger, Aggressive behavior, Cryptorchi...	OMIM:607872
Retinitis Pigmentosa 88	Nyctalopia, Reduced visual acuity	OMIM:618826
Ovarian Fibrothecoma	Ovarian fibroma, Metrorrhagia, Abnormality of the ovary, Hirsutism	ORPHA:314478
Chédiak-Higashi Syndrome	Recurrent bacterial skin infections, Hypopigmentation of hair, Skin rash, Large clumps of pigment...	ORPHA:167
Stargardt Disease	Central scotoma, Nyctalopia, Reduced visual acuity, Color vision defect	ORPHA:827
Revesz Syndrome	Nail pits, Fine hair, Nail dystrophy, Sparse hair, Ridged fingernail	OMIM:268130
Sarcosinemia	Congenital blindness	ORPHA:3129
Granulomatosis With Polyangiitis	Skin ulcer	OMIM:608710
Albers-Schönberg Osteopetrosis	Blindness, Short stature, Visual impairment	ORPHA:53
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Reduced subcutaneous adipose tissue, Progeroid facial appearance, Generalized hirsutism, Polycyst...	ORPHA:280365
Teebi-Shaltout Syndrome	Telecanthus, Slow-growing hair, Highly arched eyebrow, Low anterior hairline, Sparse hair, Ptosis	OMIM:272950
Canavan Disease	Blindness, Visual impairment	ORPHA:141
X-Linked Recessive Ocular Albinism	Photophobia, Myopia, Visual impairment	ORPHA:54
Infantile Krabbe Disease	Photophobia, Visual loss, Blindness	ORPHA:206436
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Sparse scalp hair, Renal insufficiency, Sparse eyelashes, Proteinuria, Sparse eyebrow, Erythema, ...	OMIM:614748
Krabbe Disease	Blindness	OMIM:245200
Blau Syndrome	Intermittent generalized erythematous papular rash, Skin ulcer	OMIM:186580
Kindler Epidermolysis Bullosa	Urethral stricture, Recurrent skin infections, Phimosis, Erythema, Cheilitis, Neoplasm of the ure...	ORPHA:2908
Vici Syndrome	Epicanthus, Hypopigmentation of hair, Albinism, Chronic mucocutaneous candidiasis, Dysphagia, Abn...	OMIM:242840
Chops Syndrome	Curly hair, Thick hair, Cryptorchidism, Synophrys, Horseshoe kidney, Coarse hair, Long eyelashes,...	OMIM:616368
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Blindness	OMIM:236270
Focal Dermal Hypoplasia	Alopecia, Telangiectasia of the skin, Erythema, Thin skin, Abnormality of the nail	ORPHA:2092
Oculocerebrorenal Syndrome Of Lowe	Sparse scalp hair, Hyperparathyroidism, Recurrent respiratory infections, Cryptorchidism, Skin ul...	ORPHA:534
Bilateral Acute Depigmentation Of The Iris	Photophobia	ORPHA:69736
Autosomal Recessive Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Cholangitis, Biliary hyperplasia, Pancre...	ORPHA:731
Combined Oxidative Phosphorylation Deficiency 40	Decreased circulating cortisol level, Hypoglycemia, Decreased liver function	OMIM:618835
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc...	OMIM:233690
Leukocyte Adhesion Deficiency	Recurrent urinary tract infections, Recurrent staphylococcal infections, BCGosis, Recurrent tonsi...	ORPHA:2968
Severe Early-Childhood-Onset Retinal Dystrophy	Myopia, Nyctalopia, Blurred vision, Reduced visual acuity, Peripheral visual field loss, Photopho...	ORPHA:364055
Combined Oxidative Phosphorylation Deficiency 42	Decreased circulating cortisol level, Hypoglycemia, Decreased liver function	OMIM:618839
Complete Androgen Insensitivity Syndrome	Acne, Sparse axillary hair, Elevated circulating luteinizing hormone level, Sparse pubic hair, Bi...	ORPHA:99429
Perrault Syndrome 6	Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim...	OMIM:617565
Lysinuric Protein Intolerance	Stage 5 chronic kidney disease, Fine hair, Cutis laxa, Aminoaciduria, Hyperlysinuria, Sparse hair...	OMIM:222700
Non-24-Hour Sleep-Wake Syndrome	Blindness, Abnormal pineal melatonin secretion	ORPHA:73267
Lenz-Majewski Hyperostotic Dwarfism	Prominent scalp veins, Lacrimal duct stenosis, Anterior pituitary hypoplasia, Cutis marmorata, Cr...	OMIM:151050
Joubert Syndrome With Oculorenal Defect	Blindness, Highly arched eyebrow, Visual impairment	ORPHA:2318
Hepatoerythropoietic Porphyria	Recurrent bacterial skin infections, Blindness, Pruritus, Scarring alopecia of scalp, Thickened s...	ORPHA:95159
Retinitis Pigmentosa 84	Nyctalopia, Visual acuity no light perception	OMIM:618220
Pituitary Dermoid And Epidermoid Cysts	Enlarged pituitary gland, Neoplasm of the anterior pituitary, Diplopia, Reduced visual acuity, Ol...	ORPHA:91351
Short Stature, Microcephaly, And Endocrine Dysfunction	Unilateral renal agenesis, Ectopic kidney, Cryptorchidism, Acanthosis nigricans, Renal hypoplasia...	OMIM:616541
Cone-Rod Dystrophy And Hearing Loss 1	Photophobia, Dyschromatopsia, Visual impairment, Hemeralopia	OMIM:617236
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Methioninuria, Brittle hair, Homocystinuria, Pancreatitis	OMIM:236200
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Hypogly...	OMIM:617093
Smith-Kingsmore Syndrome	Curly hair, Downslanted palpebral fissures, Cryptorchidism	OMIM:616638
Gorlin-Chaudhry-Moss Syndrome	Abnormal eyelid morphology, Low anterior hairline, Upper eyelid coloboma, Coarse hair, Generalize...	ORPHA:2095
Cranioectodermal Dysplasia 4	Short stature, Nyctalopia, Hypermetropia, Visual impairment, Onychogryposis	OMIM:614378
Retinitis Pigmentosa 66	Constriction of peripheral visual field, Central scotoma, Nyctalopia, Reduced visual acuity, Visu...	OMIM:615233
Thanatophoric Dysplasia Type 1	Excessive wrinkled skin, Redundant skin	ORPHA:1860
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Upslanted palpebral fissure, Dry skin	OMIM:619306
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Nyctalopia	ORPHA:99947
Severe X-Linked Intellectual Disability, Gustavson Type	Severe postnatal growth retardation, Blindness	ORPHA:3078
Adenocarcinoma Of The Anal Canal	Skin ulcer	ORPHA:424016
Fuchs Heterochromic Iridocyclitis	Vitreous floaters, Reduced visual acuity, Photophobia, Abnormal best corrected visual acuity test...	ORPHA:263479
Woodhouse-Sakati Syndrome	Alopecia, Premature ovarian insufficiency, Hypogonadotropic hypogonadism, Hypergonadotropic hypog...	OMIM:241080
Trichohepatoenteric Syndrome 1	Curly hair, Brittle hair, Hypospadias, Polyhydramnios, Renal cortical microcysts, Fine hair, Gala...	OMIM:222470
Classic Pantothenate Kinase-Associated Neurodegeneration	Abnormal posturing, Attention deficit hyperactivity disorder, Aspiration pneumonia, Dysphagia	ORPHA:216866
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteomyelitis, Epidermal acanthosis, Skin rash, Pustule, Hyperkeratosis, Joint swelling, Stomatitis	OMIM:612852
Hemorrhagic Fever-Renal Syndrome	Anuria, Proteinuria, Pneumonia, Glomerulonephritis, Chronic kidney disease, Oliguria, Acute tubul...	ORPHA:340
X-Linked Intellectual Disability, Golabi-Ito-Hall Type	Epicanthus, Dry hair, Brittle hair, Upslanted palpebral fissure, Nail dystrophy	ORPHA:93947
Immunodeficiency 36 With Lymphoproliferation	Persistent CMV viremia, Recurrent upper respiratory tract infections, Persistent EBV viremia, Rec...	OMIM:616005
Retinitis Pigmentosa 89	Nyctalopia, Constriction of peripheral visual field	OMIM:618955
Lipodystrophy-Intellectual Disability-Deafness Syndrome	Progeroid facial appearance	ORPHA:50811
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Generalized ichthyosis, Esophagitis, Abnormality of hair texture	ORPHA:79351
46,Xy Sex Reversal 6	Dysgerminoma, Hirsutism, Sparse axillary hair	OMIM:613762
Oculodentodigital Dysplasia	Epicanthus, Dry hair, Slow-growing hair, Fine hair, Sparse hair, Blepharophimosis, Short palpebra...	OMIM:164200
Alpha-N-Acetylgalactosaminidase Deficiency	Blindness	ORPHA:3137
Orofaciodigital Syndrome Type 3	Stage 5 chronic kidney disease, Abnormality of hair texture	ORPHA:2752
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis, Alopecia totalis	OMIM:618775
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Eczema, Oral-pharyngeal dysphagia, Toenail dysplasia, Synophrys, Nasolacrimal duct obstruction, A...	OMIM:300966
Schimke Immunoosseous Dysplasia	Renal insufficiency, Proteinuria, Bilateral cryptorchidism, Stage 5 chronic kidney disease, Fine ...	OMIM:242900
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Brittle hair, Hypospadias, Fine hair, Chordee, Compulsive behaviors, Attention deficit hyperactiv...	OMIM:618891
Leigh Syndrome	Ptosis, Alopecia, Eczema, Frontal hirsutism, Hypertrichosis	ORPHA:506
Sunct Syndrome	Photophobia	ORPHA:57145
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, Recurrent ...	OMIM:601495
Chilton-Okur-Chung Neurodevelopmental Syndrome	Hooded eyelid, Anterior pituitary hypoplasia, Polyhydramnios, Synophrys, Fetal pyelectasis, Low a...	OMIM:619841
S-Adenosylhomocysteine Hydrolase Deficiency	Hydrops fetalis, Abnormality of hair texture	ORPHA:88618
Charcot-Marie-Tooth Disease Type 4B2	Penetrating foot ulcers	ORPHA:99956
Marshall Syndrome	Sparse eyebrow, Sparse eyelashes, Sparse hair	ORPHA:560
Purine Nucleoside Phosphorylase Deficiency	Recurrent urinary tract infections, Recurrent viral infections, Recurrent opportunistic infection...	OMIM:613179
Acrofacial Dysostosis, Catania Type	Hypospadias, Abnormal hair pattern, Cryptorchidism, Coarse hair, Downslanted palpebral fissures	ORPHA:1786
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Dehydration, Abnormal tubulointerstitial morphology, Renal tubular dysfunction...	ORPHA:411629
Gaucher Disease, Perinatal Lethal	Nonimmune hydrops fetalis, Polyhydramnios, Dysphagia, Hyperkeratosis, Congenital nonbullous ichth...	OMIM:608013
Cranioectodermal Dysplasia 2	Unilateral ptosis, Epicanthus, Telecanthus, Sparse eyelashes, Cholangitis, Polyhydramnios, Blepha...	OMIM:613610
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Woolly hair	OMIM:607450
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Progressive night blindness, Constriction of peripheral visual field, Short stature, Progressive ...	ORPHA:436245
Colchicine Poisoning	Alopecia, Renal insufficiency, Myocarditis, Oliguria, Dehydration	ORPHA:31824
Amelogenesis Imperfecta, Type Ig	Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis	OMIM:204690
Plague	Chapped lip, Skin rash, Edema, Anorexia, Erythema nodosum, Lymphadenitis, Enterocolitis, Skin ulc...	ORPHA:707
Hsd10 Disease, Infantile Type	Visual loss, Blindness	ORPHA:391428
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Myopathy, Tubular Aggregate, 1	Nyctalopia	OMIM:160565
Congenital Ptosis	Myopia, Premature ovarian insufficiency, Amblyopia, Piebaldism, Reduced visual acuity, Hypermetro...	ORPHA:91411
Late Infantile Neuronal Ceroid Lipofuscinosis	Visual loss, Myopia, Blindness, Reduced visual acuity	ORPHA:168491
Spinocerebellar Ataxia, Autosomal Recessive 3	Blindness	OMIM:271250
Lymphedema-Distichiasis Syndrome	Yellow nails, Photophobia, Distichiasis	OMIM:153400
Bardet-Biedl Syndrome 1	Myopia, Nyctalopia, Reduced visual acuity, Peripheral visual field loss, Abnormality of the ovary...	OMIM:209900
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hyperinsulinemia, Agitation, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia, Glycosuria,...	ORPHA:263455
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Recurrent urinary tract infections, Recurrent ear infections, Recurrent viral infections, Low pos...	ORPHA:221139
Isolated Osteopoikilosis	Abnormality of the kidney, Discoid lupus rash, Dacryocystitis, Addictive alcohol use, Scleroderma	ORPHA:166119
Wolfram Syndrome, Mitochondrial Form	Blindness	OMIM:598500
Cushing Syndrome Due To Ectopic Acth Secretion	Sparse scalp hair, Pancreatic adenocarcinoma, Adrenal hyperplasia, Pancreatoblastoma, Pituitary c...	ORPHA:99889
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia,...	OMIM:619418
Ophthalmomandibulomelic Dysplasia	Blindness	ORPHA:2741
Reversible Cerebral Vasoconstriction Syndrome	Photophobia, Phonophobia, Blurred vision	ORPHA:284388
Granular Corneal Dystrophy Type I	Photophobia, Reduced visual acuity, Visual impairment	ORPHA:98962
Immunodeficiency With Hyper-Igm, Type 1	Sepsis, Recurrent bacterial infections, Chronic oral candidiasis, Recurrent lower respiratory tra...	OMIM:308230
Late-Infantile/Juvenile Krabbe Disease	Visual loss, Blindness, Visual impairment	ORPHA:206443
Noonan Syndrome With Multiple Lentigines	Excessive wrinkled skin, Cryptorchidism, Webbed neck, Ptosis	ORPHA:500
Orofaciodigital Syndrome I	Epicanthus, Telecanthus, Dry hair, Alopecia, Pancreatic cysts, Ovarian cyst, Sparse hair, Downsla...	OMIM:311200
Craniofrontonasal Syndrome	Ridged nail, Curly hair, Telecanthus, Split nail, Hypospadias, Cryptorchidism, Widow's peak, Low ...	OMIM:304110
Congenital Disorder Of Glycosylation, Type Iif	Recurrent bacterial infections	OMIM:603585
Vitreoretinochoroidopathy	Blindness, Dyschromatopsia, Color vision defect, Nyctalopia	OMIM:193220
Exudative Vitreoretinopathy 4	Blindness, Reduced visual acuity	OMIM:601813
Systemic Capillary Leak Syndrome	Pericarditis, Renal insufficiency, Abnormal renal tubule morphology, Myocarditis, Oliguria, Pedal...	ORPHA:188
Limbal Stem Cell Deficiency	Photophobia, Reduced visual acuity	ORPHA:171673
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Dehydration, Nephr...	ORPHA:47159
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hyperkeratosis	OMIM:145250
Pancreatic And Cerebellar Agenesis	Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Flexion contracture, Pancre...	OMIM:609069
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Panniculitis, Dry skin, Eczema	ORPHA:508542
Koolen-De Vries Syndrome Due To A Point Mutation	Decreased response to growth hormone stimulation test, Fetal pyelectasis, Pineal cyst, Vesicouret...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Fetal pyelectasis, Pineal cyst, Vesicouret...	ORPHA:363958
Cockayne Syndrome Type 3	Dry hair, Mild postnatal growth retardation, Hypermetropia, Premature graying of hair, Photophobia	ORPHA:90324
Craniolenticulosutural Dysplasia	Sparse hair, Coarse hair, Brittle hair	ORPHA:50814
Lymphatic Filariasis	Predominantly lower limb lymphedema, Glomerulonephritis, Abnormality of the kidney, Lymphedema, O...	ORPHA:2035
Mucopolysaccharidosis Type 3	Myopia, Blindness, Constriction of peripheral visual field, Thick hair, Synophrys, Nyctalopia, Hy...	ORPHA:581
Postinfectious Vasculitis	Palpable purpura, Persistent human papillomavirus infection, Orchitis, Severe varicella zoster in...	ORPHA:48435
Dyskeratosis Congenita, X-Linked	Ridged nail, Split nail, Alopecia, Sparse eyelashes, Cryptorchidism, Pterygium of nails, Prematur...	OMIM:305000
Autosomal Dominant Robinow Syndrome	Epicanthus, Alopecia, Onychogryposis of fingernail, Curly eyelashes, Cryptorchidism, Upslanted pa...	ORPHA:3107
Aicardi-Goutières Syndrome	Myositis, Chilblains, Arthritis, Eyelid coloboma, Panniculitis, Micropenis, Dry skin, Ptosis	ORPHA:51
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium	Blindness, Reduced visual acuity	ORPHA:440727
Car T Cell Therapy-Associated Cytokine Release Syndrome	Increased inflammatory response, Skin rash, Pleural effusion, Acute kidney injury, Decreased urin...	ORPHA:542323
Spinocerebellar Ataxia Type 7	Blindness, Visual loss, Reduced visual acuity, Photophobia, Hemeralopia	ORPHA:94147
Canavan Disease	Blindness, Visual impairment	OMIM:271900
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Myopia, Short stature, Cryptorchidism, Hypermetropia, Patchy alopecia, Cholelithiasis, Decreased ...	OMIM:300534
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperlipidemia, Xanthelasma, Fasting h...	OMIM:232200
Geroderma Osteodysplastica	Prematurely aged appearance, Redundant skin, Thin skin	ORPHA:2078
Immunodeficiency 21	Recurrent fungal infections, Recurrent mycobacterium avium complex infections, Recurrent viral in...	OMIM:614172
Eales Disease	Reduced visual acuity, Blindness, Photopsia, Vitreous floaters	ORPHA:40923
Costello Syndrome	Deep-set nails, Curly hair, Epicanthus, Redundant neck skin, Renal insufficiency, Thin nail, Poly...	OMIM:218040
Bardet-Biedl Syndrome 3	Nyctalopia, Visual impairment	OMIM:600151
Immunodeficiency 12	Recurrent bacterial infections, Recurrent lower respiratory tract infections, Recurrent viral inf...	OMIM:615468
Momo Syndrome	Blindness, Short stature, Hyperconvex nail, Auditory sensitivity	ORPHA:2563
Familial Exudative Vitreoretinopathy	Reduced visual acuity, Severely reduced visual acuity, Blindness, Vitreous floaters	ORPHA:891
Cinca Syndrome	Growth delay, Blindness, Visual impairment	ORPHA:1451
Localized Scleroderma	Abnormal skin adnexa morphology, Cutaneous sclerotic plaque, Localized skin lesion, Erythema, Hyp...	ORPHA:90289
Relapsing Polychondritis	Alopecia, Erythema, Conjunctivitis, Purpura	ORPHA:728
Musk, Inability To Smell	Blindness	OMIM:254150
Coccidioidomycosis	Skin rash, Pruritus, Erythema nodosum, Photophobia, Folliculitis, Morbilliform rash, Abnormal spe...	ORPHA:228123
Usher Syndrome Type 2	Myopia, Scotoma, Visual loss, Nyctalopia, Hemianopia	ORPHA:231178
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Blindness	OMIM:204850
Congenital Muscular Dystrophy With Cerebellar Involvement	Myopia, Blindness	ORPHA:370959
Systemic Lupus Erythematosus	Discoid lupus rash, Alopecia, Malar rash, Cutaneous photosensitivity	ORPHA:536
Classic Progressive Supranuclear Palsy Syndrome	Photophobia, Blurred vision	ORPHA:240071
Kenny-Caffey Syndrome, Type 1	Recurrent bacterial infections, Congenital hypoparathyroidism	OMIM:244460
Encephalocraniocutaneous Lipomatosis	Abnormal eyelash morphology, Alopecia, Abnormal nasolacrimal system morphology, Abnormal eyelid m...	ORPHA:2396
Developmental Malformations-Deafness-Dystonia Syndrome	Blindness, Short stature	ORPHA:79107
Webb-Dattani Syndrome	Blindness, Short stature, Decreased response to growth hormone stimulation test, Anterior pituita...	OMIM:615926
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Sparse hair, Nail dysplasia, Breast hypoplasia, Small nail	OMIM:614813
Ocular Cystinosis	Photophobia, Visual impairment	ORPHA:411641
Acquired Central Diabetes Insipidus	Pollakisuria, Polydipsia	ORPHA:95626
Mannosidosis, Alpha B, Lysosomal	Recurrent bacterial infections, Low anterior hairline, Thick eyebrow, Hypertrichosis	OMIM:248500
Autosomal Recessive Robinow Syndrome	Epicanthus, Alopecia, Cryptorchidism, Upslanted palpebral fissure, Long eyelashes, Fingernail dys...	ORPHA:1507
Cerebellar-Facial-Dental Syndrome	Sparse eyebrow, Cryptorchidism, Fine hair, S-shaped palpebral fissures, Sparse hair	ORPHA:444072
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Short stature, Nyctalopia, Hypoplasia of the ovary, Intrauterine growth retardation, De...	OMIM:619321
Brain-Lung-Thyroid Syndrome	Thyroid dysgenesis, Hypoparathyroidism, Hyperactivity, Hypospadias, Abnormal eating behavior, Rec...	ORPHA:209905
Retinitis Pigmentosa 83	Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity, Vitreous floaters	OMIM:618173
Corneal Dystrophy, Thiel-Behnke Type	Photophobia	OMIM:602082
Argininosuccinic Aciduria	Dry hair, Brittle hair, Trichorrhexis nodosa, Aminoaciduria, Oroticaciduria, Cerebral edema	OMIM:207900
Simple Cryoglobulinemia	Localized skin lesion, Acral ulceration, Purpura	ORPHA:91139
Autoimmune Polyendocrinopathy Type 3	Alopecia, Autoimmune hypoparathyroidism, Anterior pituitary dysgenesis, Chronic mucocutaneous can...	ORPHA:227982
Sporadic Infantile Bilateral Striatal Necrosis	Abnormal posturing, Urinary incontinence, Dysphagia, Titubation	ORPHA:225147
Phakomatosis Pigmentokeratotica	Cryptorchidism, Melanocytic nevus, Linear nevus sebaceous, Hyperhidrosis, Patchy alopecia, Pheoch...	ORPHA:2874
Blindness-Scoliosis-Arachnodactyly Syndrome	Visual loss, Blindness	ORPHA:171844
Autoimmune Polyendocrinopathy Type 4	Alopecia, Keratoconjunctivitis sicca, Chronic mucocutaneous candidiasis, Anterior pituitary dysge...	ORPHA:227990
Idiopathic Bronchiectasis	Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections	ORPHA:60033
Leprechaunism	Enlarged ovaries, Thickened skin, Long penis, Acanthosis nigricans, Hypercalciuria, Nephrocalcino...	ORPHA:508
Retinitis Pigmentosa 60	Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Peripheral visual fie...	OMIM:613983
Fabry Disease	Conjunctival telangiectasia, Glomerulopathy, Renal insufficiency, Proteinuria, Anorexia, Lymphede...	ORPHA:324
Exudative Vitreoretinopathy 1	Blindness, Reduced visual acuity, Vitreous floaters	OMIM:133780
Infection-Related Hemolytic Uremic Syndrome	Anuria, Pneumonia, Edema, Myocarditis, Oliguria, Decreased urine output, Pleural empyema, Pallor,...	ORPHA:544482
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Epicanthus, Redundant neck skin, Eczema, Pseudohypoparathyroidism, Sparse hair, Frontal hirsutism...	OMIM:617157
Vascular Ehlers-Danlos Syndrome	Dermal translucency, Telecanthus, Hypoplastic lacrimal duct, Epicanthus, Alopecia, Redundant skin...	ORPHA:286
Cholera	Abnormality of renal excretion, Dehydration, Aspiration pneumonia, Palmoplantar cutis laxa, Acute...	ORPHA:173
Intellectual Developmental Disorder, Autosomal Dominant 68	Sparse hair, Epicanthus, Ptosis	OMIM:619934
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ...	OMIM:614723
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Cryptorchidism, Congenital hypoparathyroidism, Recurrent bacterial infections, Decreased response...	OMIM:241410
Diamond-Blackfan Anemia 21	Unilateral ptosis, Synophrys, Widow's peak, Coarse hair, Horizontal eyebrow, Downslanted palpebra...	OMIM:620072
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Curly hair, Abnormal fingernail morphology, Thick hair, Highly arched eyebrow, Decreased response...	ORPHA:444077
Normosmic Congenital Hypogonadotropic Hypogonadism	Cryptorchidism, Breast hypoplasia, Hypoplasia of the ovary, Sparse body hair, Decreased testicula...	ORPHA:432
Sepsis In Premature Infants	Edema, Enterocolitis, Oliguria, Pallor, Reversible renal failure, Petechiae, Purpura	ORPHA:90051
Arterial Tortuosity Syndrome	Progeroid facial appearance, Telangiectases of the cheeks, Cutis laxa, Thin skin, Blepharophimosi...	OMIM:208050
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Brittle hair, Hypospadias, Oral-pharyngeal dysphagia	OMIM:619184
Cranioectodermal Dysplasia 1	Epicanthus, Telecanthus, Slow-growing hair, Short nail, Thin nail, Renal magnesium wasting, Chron...	OMIM:218330
Sandhoff Disease	Blindness, Impotence	OMIM:268800
Herpes Simplex Virus Stromal Keratitis	Blindness, Reduced visual acuity	ORPHA:137599
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Epicanthus, Dry hair, Low anterior hairline, Head-banging	OMIM:618569
Ataxia-Telangiectasia-Like Disorder 2	Photophobia, Short stature, Absent pubertal growth spurt	OMIM:615919
Genitopatellar Syndrome	Sparse scalp hair, Multicystic kidney dysplasia, Cryptorchidism, Fine hair, Hydronephrosis	ORPHA:85201
Laron Syndrome	Prematurely aged appearance	ORPHA:633
Rift Valley Fever	Photophobia, Reduced visual acuity, Skin rash, Scotoma	ORPHA:319251
Immunodeficiency 47	Recurrent bacterial infections, Recurrent infections, Exocrine pancreatic insufficiency, Cutis laxa	OMIM:300972
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Woolly hair	OMIM:610193
Congenital Erythropoietic Porphyria	Recurrent bacterial skin infections, Blindness, Pruritus, Scarring alopecia of scalp, Thickened s...	ORPHA:79277
Distal Deletion 12Q	Late onset atopic dermatitis, Telecanthus, Hyperactivity, Unilateral cryptorchidism, Ectopic kidn...	ORPHA:96149
Axenfeld-Rieger Syndrome, Type 2	Cryptorchidism, Blindness	OMIM:601499
Xeroderma Pigmentosum, Variant Type	Photophobia, Growth delay	OMIM:278750
Ramon Syndrome	Hyperkeratosis, Juvenile rheumatoid arthritis, Hypertrichosis	OMIM:266270
Agammaglobulinemia 9, Autosomal Recessive	Recurrent bacterial infections	OMIM:619693
Meningioma	Bitemporal hemianopia, Blindness, Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neopla...	ORPHA:2495
Miller Fisher Syndrome	Photophobia, Diplopia, Blurred vision	ORPHA:98919
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Curly hair, Downslanted palpebral fissures	ORPHA:85184
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Nyctalopia, Short stature	OMIM:615630
Ophthalmomandibulomelic Dysplasia	Blindness	OMIM:164900
Alacrima, Congenital, Autosomal Recessive	Photophobia	OMIM:601549
Mucolipidosis Type Ii	Epicanthus, Dry hair, Thickened skin, White hair, Fine hair, Otitis media, Shallow orbits, Oligoh...	ORPHA:576
Lateral Meningocele Syndrome	Telecanthus, Neurogenic bladder, Cryptorchidism, Coarse hair, Downslanted palpebral fissures, Ptosis	OMIM:130720
Macular Corneal Dystrophy	Photophobia, Severely reduced visual acuity	ORPHA:98969
Isolated Congenital Alacrima	Photophobia, Lacrimal gland hypoplasia, Distichiasis	ORPHA:91416
Ethylene Glycol Poisoning	Renal insufficiency, Gastritis, Renal tubular epithelial necrosis, Renal tubular dysfunction, Hem...	ORPHA:31826
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hyperkeratosis, Rhizomelia, Short stature, Intrauterine growth retardation	ORPHA:163966
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Fasting hyperinsulinemia, Hypoglycemic seizures, Hyp...	ORPHA:71212
Encephalitis Lethargica	Photophobia, Diplopia	ORPHA:83600
Dystonia 1, Torsion, Autosomal Dominant	Blepharospasm, Abnormal posturing, Dysphagia	OMIM:128100
Microcephaly 20, Primary, Autosomal Recessive	Intrauterine growth retardation, Blindness, Short stature	OMIM:617914
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Ecchymosis, Cholelithiasis, Skin ulcer	ORPHA:2072
Vitreoretinopathy, Neovascular Inflammatory	Blindness	OMIM:193235
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Nail dystrophy, Recurrent bacterial infections, Thin skin	OMIM:615895
X-Linked Cerebral Adrenoleukodystrophy	Male hypogonadism, Blindness, Reduced visual acuity	ORPHA:139396
Retinitis Pigmentosa 77	Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity	OMIM:617304
Adrenomyeloneuropathy	Urinary incontinence, Frontal balding, Adrenocorticotropic hormone excess, Fine hair, Urinary urg...	ORPHA:139399
Lassa Fever	Facial edema, Conjunctivitis, Oliguria, Dysphagia	ORPHA:99824
Refsum Disease, Classic	Nyctalopia, Ichthyosis	OMIM:266500
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Epicanthus, Absent nipple, Aplasia of the thymus, Sparse eyebrow, Hydrocele testis, Lacrimal duct...	OMIM:620186
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Splenomegaly, Hyp...	OMIM:232220
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Cryptorchi...	OMIM:612541
Retinitis Pigmentosa 14	Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity	OMIM:600132
Congenital Tufting Enteropathy	Photophobia	ORPHA:92050
Lead Poisoning	Decreased female libido, Skin rash, Abnormality of the menstrual cycle, Oligozoospermia, Infertil...	ORPHA:330015
Bloom Syndrome	Male infertility, Premature ovarian insufficiency, Skin rash, Sparse eyelashes, Paronychia, Oligo...	ORPHA:125
Branchioskeletogenital Syndrome	Telecanthus, Absent nipple, Highly arched eyebrow, Synophrys, Blepharochalasis, Eyelid coloboma, ...	ORPHA:1299
Craniolenticulosutural Dysplasia	Sparse hair, Cryptorchidism, Coarse hair, Brittle hair	OMIM:607812
Momo Syndrome	Blindness, Hyperconvex nail	OMIM:157980
Mandibuloacral Dysplasia Progeroid Syndrome	Hypertriglyceridemia, Proteinuria, Sparse eyebrow, Palmoplantar hyperkeratosis, Focal segmental g...	OMIM:619127
Cerebellofaciodental Syndrome	Sparse eyebrow, Cryptorchidism, Aggressive behavior, Fine hair	OMIM:616202
Granulomatous Disease, Chronic, X-Linked	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc...	OMIM:306400
Arterial Tortuosity Syndrome	Telangiectasia of the skin, Prematurely aged appearance, Redundant skin, Thin skin, Blepharophimo...	ORPHA:3342
Ataxia With Vitamin E Deficiency	Nyctalopia, Visual impairment	ORPHA:96
Infantile Neuroaxonal Dystrophy	Blindness	ORPHA:35069
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Elevated hepatic transaminase, Failure to thrive, Hypoglycemia, Microvesicular hepatic steatosis,...	OMIM:617156
Non-Acquired Panhypopituitarism	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec...	ORPHA:90695
Hypocomplementemic Urticarial Vasculitis	Recurrent bacterial infections, Meningitis	ORPHA:36412
Renpenning Syndrome 1	Blindness, Brittle hair, Short stature, Hypermetropia, Sparse hair, Decreased testicular size, Sp...	OMIM:309500
Hypothyroidism, Congenital, Nongoitrous, 2	Dry skin, Thyroid hypoplasia, Ectopic thyroid, Goiter	OMIM:218700
Spinocerebellar Ataxia 34	Erythroderma, Epidermal hyperkeratosis	OMIM:133190
Turner Syndrome Due To Structural X Chromosome Anomalies	Myopia, Alopecia, Premature ovarian insufficiency, Abnormal fingernail morphology, Short stature,...	ORPHA:99413
Mosaic Monosomy X	Myopia, Alopecia, Premature ovarian insufficiency, Abnormal fingernail morphology, Short stature,...	ORPHA:99228
Monosomy X	Myopia, Alopecia, Premature ovarian insufficiency, Abnormal fingernail morphology, Short stature,...	ORPHA:99226
Turner Syndrome	Myopia, Alopecia, Premature ovarian insufficiency, Abnormal fingernail morphology, Short stature,...	ORPHA:881
Fucosidosis	Mucopolysacchariduria, Generalized hyperkeratosis, Abnormality of the nail, Hyperhidrosis	ORPHA:349
Genetic Recurrent Myoglobinuria	Dark urine, Myositis, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuri...	ORPHA:99845
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Coarse hair, Nail dysplasia, Shallow orbits	OMIM:612394
Retinitis Pigmentosa 10	Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity	OMIM:180105
Severe Generalized Junctional Epidermolysis Bullosa	Alopecia, Recurrent skin infections, Paronychia, Fragile skin, Pyoderma, Nail dystrophy, Anonychi...	ORPHA:79404
Retinitis Pigmentosa 49	Nyctalopia, Reduced visual acuity, Peripheral visual field loss	OMIM:613756
White-Sutton Syndrome	Myopia, Blindness, Short stature, Hypermetropia, Visual impairment	ORPHA:468678
Retinitis Pigmentosa 13	Nyctalopia, Constriction of peripheral visual field	OMIM:600059
Generalized Glucocorticoid Resistance Syndrome	Adrenal hyperplasia, Acne, Frontal balding, Oligozoospermia, Oligomenorrhea, Infertility, Hirsutism	ORPHA:786
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Acute kidney injury, Purpura	OMIM:235400
Wolfram Syndrome	Recurrent urinary tract infections, Dysuria, Abnormality of the urinary system, Nephropathy, Poly...	ORPHA:3463
Adams-Oliver Syndrome 1	Alopecia, Cutis marmorata, Supernumerary nipple, Small nail	OMIM:100300
Autosomal Recessive Faciodigitogenital Syndrome	Dry hair, Hypopigmentation of hair, Telecanthus, Widow's peak, Upslanted palpebral fissure, Coars...	ORPHA:1974
Mccune-Albright Syndrome	Blindness, Hyperparathyroidism, Elevated circulating growth hormone concentration, Pituitary aden...	OMIM:174800
Mucolipidosis Ii Alpha/Beta	Epicanthus, Brittle hair, Palpebral edema, Sparse eyebrow, Recurrent pneumonia, Mucopolysaccharid...	OMIM:252500
Weill-Marchesani Syndrome 1	Blindness, Short stature, Proportionate short stature, Thickened skin, High myopia	OMIM:277600
Stickler Syndrome, Type I	Myopia, Blindness	OMIM:108300
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Blindness, Amblyopia, Cryptorchidism, Visual loss, Hypogonadism	ORPHA:2250
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Blindness	OMIM:603387
Osteopetrosis, Autosomal Recessive 1	Blindness, Visual impairment	OMIM:259700
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Myopia, Blindness, Short stature, Cryptorchidism	ORPHA:847
Alström Syndrome	Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h...	ORPHA:64
46,Xy Sex Reversal 1	Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Abnormality of th...	OMIM:400044
Menke-Hennekam Syndrome 1	Epicanthus, Telecanthus, Thick eyebrow, Cryptorchidism, Upslanted palpebral fissure, Long eyelash...	OMIM:618332
Aica-Ribosiduria	Congenital blindness	ORPHA:250977
Autosomal Recessive Malignant Osteopetrosis	Chronic rhinitis, Pallor, Otitis media, Abnormality of hair texture	ORPHA:667
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Nephrocalcinosis, Aminoaciduria, Brittle hair	OMIM:616084
Pseudoxanthoma Elasticum	Civatte bodies, Yellow papule, Cutis laxa	OMIM:264800
Acute Promyelocytic Leukemia	Anorexia, Hematuria, Addictive alcohol use, Stomatitis, Ecchymosis, Petechiae, Purpura	ORPHA:520
Retinitis Pigmentosa 58	Nyctalopia, Peripheral visual field loss, Severely reduced visual acuity	OMIM:613617
Retinitis Pigmentosa 56	Nyctalopia, Reduced visual acuity, Visual field defect	OMIM:613581
Proteasome-Associated Autoinflammatory Syndrome 1	Sparse axillary hair, Progeroid facial appearance, Erythema nodosum, Erythema, Premature graying ...	OMIM:256040
Cogan Syndrome	Photophobia, Blindness, Reduced visual acuity	ORPHA:1467
Steinert Myotonic Dystrophy	Alopecia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, ...	ORPHA:273
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Aplasia of the thymus, Recurrent viral infections, Recurrent pneumonia, Chronic mucocutaneous can...	OMIM:102700
Exercise-Induced Malignant Hyperthermia	Anhidrosis, Acute kidney injury, Dry skin, Oliguria	ORPHA:466650
Split Cord Malformation	Tufted hairs, Skin dimple, Penetrating foot ulcers, Hypertrichosis	ORPHA:573278
Chikungunya	Skin rash, Maculopapular exanthema, Pruritus, Erythema nodosum, Crusting erythematous dermatitis,...	ORPHA:324625
Gm2-Gangliosidosis, Ab Variant	Blindness, Hyperacusis	OMIM:272750
Myhre Syndrome	Blepharophimosis, Pericardial effusion, Cryptorchidism, Thickened skin, Fine hair, Narrow palpebr...	OMIM:139210
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Central scotoma, Blindness, Visual impairment	ORPHA:543470
Saul-Wilson Syndrome	Postnatal growth retardation, Intrauterine growth retardation, Nyctalopia, Short stature	OMIM:618150
Lowry-Wood Syndrome	Intrauterine growth retardation, Nyctalopia, Short stature, Peripheral visual field loss	OMIM:226960
Neurocardiofaciodigital Syndrome	Sparse eyebrow, Narrow palpebral fissure, Sparse hair	OMIM:619869
Pantothenate Kinase-Associated Neurodegeneration	Blindness, Nyctalopia, Peripheral visual field loss, Visual field defect, Visual impairment	ORPHA:157850
Osteopetrosis, Autosomal Recessive 2	Blindness	OMIM:259710
Xeroderma Pigmentosum, Complementation Group E	Photophobia	OMIM:278740
Cystinosis, Adult Nonnephropathic	Photophobia	OMIM:219750
Marshall-Smith Syndrome	Brittle hair, Highly arched eyebrow, Bilateral cryptorchidism, Cryptorchidism, Synophrys, Aspirat...	OMIM:602535
Whim Syndrome	Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Recurrent bacterial in...	ORPHA:51636
6Q Terminal Deletion Syndrome	Hypospadias, Highly arched eyebrow, Phimosis, Low anterior hairline, Hyperkeratosis, Short palpeb...	ORPHA:75857
Behçet Disease	Photophobia, Orchitis, Blindness, Acne	ORPHA:117
Retinitis Pigmentosa 41	Nyctalopia, Peripheral visual field loss, Severely reduced visual acuity	OMIM:612095
Occipital Horn Syndrome	Redundant skin, Ureteral obstruction, Bladder diverticulum, Coarse hair, Pili torti, Hydronephrosis	OMIM:304150
Cutis Laxa, Autosomal Dominant 1	Prematurely aged appearance, Redundant skin, Progeroid facial appearance, Poor wound healing, Cut...	OMIM:123700
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Blindness	ORPHA:713
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Photophobia, Intrauterine growth retardation, Severe short stature, Hypermetropia	OMIM:210730
Hypouricemia, Renal, 1	Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co...	OMIM:220150
Acute Monoblastic/Monocytic Leukemia	Periorbital edema, Oliguria, Anorexia	ORPHA:514
Wilson Disease	Pruritus, Abnormality of the menstrual cycle	ORPHA:905
Alzahrani-Kuwahara Syndrome	Self-mutilation, Dry skin, Hypospadias, Eczema	OMIM:619268
Atelis Syndrome 2	Epicanthus, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Att...	OMIM:620185
Retinitis Pigmentosa 75	Myopia, Nyctalopia, Peripheral visual field loss	OMIM:617023
Xeroderma Pigmentosum, Complementation Group C	Photophobia	OMIM:278720
Bietti Crystalline Corneoretinal Dystrophy	Constriction of peripheral visual field, Reduced visual acuity, High myopia, Paracentral scotoma,...	OMIM:210370
Joubert Syndrome 6	Blindness, Bile duct proliferation	OMIM:610688
Retinitis Pigmentosa 43	Nyctalopia, Peripheral visual field loss, Visual impairment	OMIM:613810
Bardet-Biedl Syndrome 20	Constriction of peripheral visual field, Bilateral cryptorchidism, Nyctalopia, Hypermetropia, Hem...	OMIM:619471
Fuchs Endothelial Corneal Dystrophy	Visual loss, Nyctalopia, Reduced visual acuity	ORPHA:98974
Arnold-Chiari Malformation Type I	Photophobia, Diplopia	ORPHA:268882
Noonan Syndrome	Abnormal hair quantity, Lymphedema, Cryptorchidism, Low posterior hairline, Coarse hair, Downslan...	ORPHA:648
Microphthalmia With Linear Skin Defects Syndrome	Blindness, Severe short stature, Amblyopia, Abnormal eyelash morphology, Visual loss, Growth dela...	ORPHA:2556
Intellectual Developmental Disorder And Retinitis Pigmentosa	Nyctalopia, Reduced visual acuity	OMIM:618195
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Highly arched eyeb...	ORPHA:572333
Asparagine Synthetase Deficiency	Intrauterine growth retardation, Blindness, Cerebral visual impairment	OMIM:615574
Lethal Ataxia With Deafness And Optic Atrophy	Blindness, Visual impairment	ORPHA:1187
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Hyperkeratosis, Pilomatrixoma, Multinodular goiter	OMIM:620189
Cartilage-Hair Hypoplasia	Sparse eyebrow, Epicanthus, Sparse hair	ORPHA:175
Ring Chromosome 13 Syndrome	Alopecia, Epicanthus, Hypoplasia of the gallbladder	ORPHA:96176
Lenz-Majewski Hyperostotic Dwarfism	Abnormal nasolacrimal system morphology, Redundant skin, Prematurely aged appearance, Cryptorchid...	ORPHA:2658
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Alopecia, Cryptorchidism, Loss of eyelashes, Thin eyebrow, Sparse hair, Downslanted palpebral fis...	ORPHA:2636
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Photophobia	OMIM:219900
Marchiafava-Bignami Disease	Addictive alcohol use, Urinary incontinence, Aggressive behavior	ORPHA:221074
Tick-Borne Encephalitis	Photophobia, Visual impairment	ORPHA:297
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Hematuria, Acute ...	OMIM:612925
Ullrich Congenital Muscular Dystrophy 1	Follicular hyperkeratosis, Hyperhidrosis	OMIM:254090
Mycetoma	Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis, Osteomyelitis	ORPHA:2583
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acral ulceration	OMIM:256810
Xeroderma Pigmentosum, Complementation Group D	Photophobia	OMIM:278730
Dopamine Beta-Hydroxylase Deficiency	Bilateral ptosis, Insulin resistance, Hyperinsulinemia, Hypoglycemia	ORPHA:230
Sandifer Syndrome	Abnormal posturing	ORPHA:71272
Tay-Sachs Disease	Blindness	OMIM:272800
Primary Ciliary Dyskinesia	Recurrent otitis media, Recurrent sinopulmonary infections, Recurrent mycobacterial infections	ORPHA:244
African Trypanosomiasis	Alopecia, Abnormality of the menstrual cycle, Pruritus, Diplopia, Abnormal prolactin level, Impot...	ORPHA:3385
Maternal Uniparental Disomy Of Chromosome 4	Postnatal growth retardation, Nyctalopia, Short stature, Visual field defect	ORPHA:96180
Glycogen Storage Disease Ic	Hepatomegaly, Hypoglycemia, Chronic pancreatitis, Hyperlipidemia, Xanthelasma, Hepatocellular car...	OMIM:232240
Weill-Marchesani Syndrome 2	Blindness, Short stature, Proportionate short stature, Thickened skin, High myopia	OMIM:608328
Night Blindness, Congenital Stationary, Type 1B	Hemeralopia, Myopia, Nyctalopia, Congenital stationary night blindness	OMIM:257270
Klippel-Trénaunay Syndrome	Abnormality of the menstrual cycle	ORPHA:90308
Retinitis Pigmentosa 45	Nyctalopia, Peripheral visual field loss	OMIM:613767
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Blepharophimosis, Cryptorchidism, Sparse hair	OMIM:620005
Hydranencephaly	Blindness, Postnatal growth retardation, Abnormality of vision, Intrauterine growth retardation, ...	ORPHA:2177
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hypogonadotropic hypogonadism, Acne, Frontal balding, Abnormality of the menstrual cycle, Short s...	ORPHA:90794
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Decreased testicular size, Elevated circulating luteinizing hormone level, Sparse axillary hair, ...	ORPHA:90796
Campomelia, Cumming Type	Pancreatic cysts, Prematurely aged appearance	ORPHA:1318
Scleromyxedema	Pruritus, Generalized abnormality of skin, Aged leonine appearance	ORPHA:167635
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Visual loss, Nyctalopia	ORPHA:88628
Dysosteosclerosis	Blindness, Disproportionate short stature	OMIM:224300
Aica-Ribosuria Due To Atic Deficiency	Congenital blindness	OMIM:608688
Marfanoid-Progeroid-Lipodystrophy Syndrome	Reduced subcutaneous adipose tissue, Progeroid facial appearance, Keratoconjunctivitis sicca, Bru...	OMIM:616914
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury	OMIM:612926
Coffin-Siris Syndrome 1	Sparse scalp hair, Dry hair, Ptosis, Hydroureter, Hypospadias, Ectopic kidney, Aggressive behavio...	OMIM:135900
Abetalipoproteinemia	Blindness, Scotoma, Nyctalopia, Progressive visual loss, Color vision defect	ORPHA:14
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Myopia, Blindness, Cryptorchidism	OMIM:236670
Renal Tubular Dysgenesis	Renotubular dysgenesis, Abnormality of the urinary system, Anuria, Oligohydramnios	OMIM:267430
Tay-Sachs Disease	Blindness, Visual impairment	ORPHA:845
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Epicanthus, Polyhydramnios, Cutis laxa, Bladder diverticulum, Follicular hyperkeratosis	OMIM:614557
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury	OMIM:612924
Acute Lung Injury	Acute pancreatitis, Addictive alcohol use, Pneumonia, Edema	ORPHA:178320
Sarcoidosis	Alopecia, Maculopapular exanthema, Erythema nodosum, Dacryocystitis, Enlarged lacrimal glands, En...	ORPHA:797
Liver Disease, Severe Congenital	Chronic gastritis, Dry hair, Epicanthus, Pulmonary edema, Eczema, Pneumonia, Recurrent urinary tr...	OMIM:619991
Shwachman-Diamond Syndrome	Decreased response to growth hormone stimulation test, Recurrent viral infections, Sepsis, Recurr...	ORPHA:811
Duplication Of Urethra	Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence...	ORPHA:237
Fetal And Neonatal Alloimmune Thrombocytopenia	Blindness	ORPHA:853
Bethlem Myopathy	Hyperkeratosis	ORPHA:610
Cystic Fibrosis	Recurrent Aspergillus infections, Recurrent respiratory infections, Recurrent Burkholderia cepaci...	ORPHA:586
Sturge-Weber Syndrome	Abnormality of vision, Blindness, Hemianopia	ORPHA:3205
Xq21 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Postnatal growth retardation, Adrenocortic...	ORPHA:1435
Fraser Syndrome 1	Absent eyebrow, Blindness, Absent eyelashes, Cryptorchidism, Extension of hair growth on temples ...	OMIM:219000
Crimean-Congo Hemorrhagic Fever	Erythema nodosum, Orchitis, Photophobia, Morbilliform rash, Parotitis	ORPHA:99827
Roberts Syndrome	Polyhydramnios, Cryptorchidism, Long penis, Polycystic kidney dysplasia, Sparse hair	ORPHA:3103
Viss Syndrome	Sparse scalp hair, Ptosis, Alopecia, Prominent superficial blood vessels, Eczema, Atopic dermatit...	OMIM:619472
Corneal Dystrophy, Posterior Polymorphous, 1	Photophobia	OMIM:122000
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Proteinuria, Cryptorchidism, Nail dysplasia, Sparse hair, Abnormal repetitive mannerisms	OMIM:616682
Occipital Horn Syndrome	Recurrent urinary tract infections, Thick hair, Hepatitis, Bladder diverticulum, Coarse hair, Eso...	ORPHA:198
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	White hair, Fine hair	ORPHA:935
Cryptococcosis	Abnormality of vision, Blindness, Prostatitis	ORPHA:1546
Branchiooculofacial Syndrome	Telecanthus, Hypoplastic fingernail, Supernumerary nipple, Cryptorchidism, Nasolacrimal duct obst...	OMIM:113620
Isolated Complex I Deficiency	Intrauterine growth retardation, Blindness	ORPHA:2609
Focal Dermal Hypoplasia	Ridged nail, Ureteral duplication, Brittle hair, Supernumerary nipple, Cryptorchidism, Horseshoe ...	OMIM:305600
Coffin-Lowry Syndrome	Telecanthus, Highly arched eyebrow, Cutis laxa, Hyperconvex fingernails, Coarse hair, Downslanted...	OMIM:303600
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia	ORPHA:66518
Melnick-Needles Syndrome	Ureteral stenosis, Coarse hair, Recurrent otitis media, Frontal hirsutism, Hydronephrosis	OMIM:309350
Neuroocular Syndrome	Brittle hair, Highly arched eyebrow, Lagophthalmos, Synophrys, Nasolacrimal duct obstruction, Lon...	OMIM:619539
Supranuclear Palsy, Progressive, 2	Photophobia, Diplopia, Blurred vision	OMIM:609454
Retinitis Pigmentosa 86	Nyctalopia, Progressive visual loss	OMIM:618613
Dpagt1-Cdg	Thickened skin, Nyctalopia, Hypertrichosis	ORPHA:86309
Staphylococcal Necrotizing Pneumonia	Pneumonia, Acute infectious pneumonia, Pleural empyema, Addictive alcohol use, Pleural effusion	ORPHA:36238
Sickle Cell Disease	Cholelithiasis, Recurrent bacterial infections	OMIM:603903
Full Nf2-Related Schwannomatosis	Blindness, Amblyopia, Visual loss, Diplopia, Reduced visual acuity	ORPHA:637
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Brittle hair, Cholangitis, Lacticaciduria, Tubulointerstitial nephritis, Aminoaciduria, Ptosis	OMIM:124000
Alacrima, Congenital, Autosomal Dominant	Photophobia, Lacrimal gland hypoplasia	OMIM:103420
Witteveen-Kolk Syndrome	Medial flaring of the eyebrow, Epicanthus, Hyperactivity, Unilateral cryptorchidism, Decreased re...	OMIM:613406
Immunodeficiency 87 And Autoimmunity	Recurrent viral infections, Sepsis, Persistent EBV viremia, Severe cytomegalovirus infection, Rec...	OMIM:619573
Amoebic Keratitis	Photophobia	ORPHA:67043
Classical Ehlers-Danlos Syndrome	Epicanthus, Striae distensae, Prematurely aged appearance, Poor wound healing, Dermatochalasis, B...	ORPHA:287
Supranuclear Palsy, Progressive, 1	Photophobia, Diplopia, Blurred vision	OMIM:601104
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Decreased renal tubular phosphate excretion, Nephrocalcinosis, Increased renal tubular phosphate ...	OMIM:211900
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Thyroiditis, Polycystic ovaries, Xanthelasma, Recurrent bacterial infections, Hypothyroidism, Pan...	ORPHA:79259
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Blindness	ORPHA:95433
Warburg-Cinotti Syndrome	Epicanthus, Symblepharon, Erythema, Narrow palpebral fissure, Joint swelling, Follicular hyperker...	OMIM:618175
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Anuria, Peritonitis, Dehydration, Hemoglobinuria, Acute kidney injury, Pancreatitis, Acute colitis	ORPHA:90038
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypercholesterolemia, Hypopituitarism, Addictive alcohol use	ORPHA:90065
Sarcoidosis, Susceptibility To, 1	Photophobia, Abnormal salivary gland morphology, Enlarged lacrimal glands, Blurred vision	OMIM:181000
Kyphoscoliotic Ehlers-Danlos Syndrome	Epicanthus, Synophrys, Bladder diverticulum, Follicular hyperkeratosis, Downslanted palpebral fis...	ORPHA:536545
Fraser Syndrome	Cryptorchidism, Blindness, Abnormal hair pattern	ORPHA:2052
Carnitine-Acylcarnitine Translocase Deficiency	Dicarboxylic aciduria, Oliguria	ORPHA:159
Phacoanaphylactic Uveitis	Photophobia, Visual loss, Blurred vision	ORPHA:209959
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Telecanthus, Unilateral renal agenesis, Recurrent pneumonia, D-2-hydroxyglutaric aciduria, Dry sk...	ORPHA:99646
Plasminogen Deficiency, Type I	Blindness	OMIM:217090
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Peritonitis, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical hyperechogenici...	OMIM:619351
Persistent Hyperplastic Primary Vitreous	Blindness, Reduced visual acuity, Amblyopia	ORPHA:91495
Mitochondrial Complex I Deficiency, Nuclear Type 1	Growth delay, Blindness	OMIM:252010
Hyper-Igd Syndrome	Molluscum contagiosum, Nyctalopia, Skin rash, Chronic oral candidiasis	OMIM:260920
Cerebrotendinous Xanthomatosis	Cholelithiasis, Prolonged neonatal jaundice, Prematurely aged appearance, Abnormal eyelid morphology	ORPHA:909
Cutis Laxa, Autosomal Recessive, Type Ic	Hypoplasia of the thymus, Redundant skin, Progeroid facial appearance, Cutis laxa	OMIM:613177
Autosomal Dominant Optic Atrophy And Cataract	Blindness, Red-green dyschromatopsia, Central scotoma, Reduced visual acuity, Tritanomaly, Visual...	ORPHA:67036
Interstitial Cystitis	Dyspareunia, Abnormality of the menstrual cycle	ORPHA:37202
Proteus Syndrome	Thymus hyperplasia, Generalized hyperkeratosis, Testicular neoplasm, Lymphedema, Retinal hamartom...	ORPHA:744
Retinitis Pigmentosa And Erythrocytic Microcytosis	Myopia, Nyctalopia, Ring scotoma	OMIM:616959
Primrose Syndrome	Sparse scalp hair, Epicanthus, Restlessness, Absent facial hair, Aggressive behavior, Bilateral c...	OMIM:259050
Cirrhotic Cardiomyopathy	Conjunctival icterus, Peripheral edema, Addictive alcohol use, Ascites, Pulmonary edema	ORPHA:57777
Cowden Syndrome	Abnormal penis morphology, Conjunctival hamartoma, Abnormality of the kidney, Enlarged polycystic...	ORPHA:201
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Curly hair, Telecanthus, Cyst of the ductus choledochus, Upslanted palpebral fissure, Hydronephro...	ORPHA:480880
Secondary Non-Traumatic Avascular Necrosis	Addictive alcohol use, Rheumatoid arthritis	ORPHA:399180
Tubulointerstitial Nephritis And Uveitis Syndrome	Photophobia, Skin rash, Visual impairment	ORPHA:91500
Enhanced S-Cone Syndrome	Hemeralopia, Nyctalopia	OMIM:268100
Pallister-Killian Syndrome	Sparse scalp hair, Telecanthus, Epicanthus, Sparse eyelashes, Alopecia, Supernumerary nipple, Spa...	OMIM:601803
Herpes Simplex Virus Encephalitis	Addictive alcohol use, Cerebral edema	ORPHA:1930
Norrie Disease	Blindness	OMIM:310600
Osteoporosis-Pseudoglioma Syndrome	Congenital blindness, Blindness, Short stature	OMIM:259770
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Curly hair, Absent gallbladder, Epicanthus, Unilateral renal agenesis, Bilateral renal dysplasia,...	ORPHA:500150
Igg4-Related Dacryoadenitis And Sialadenitis	Blindness, Enlarged lacrimal glands, Enlargement of parotid gland, Nodular goiter, Abnormal saliv...	ORPHA:79078
17Q11 Microdeletion Syndrome	Blindness, Short stature, Thickened skin, Pheochromocytoma, Progressive visual loss, Delayed pube...	ORPHA:97685
Aneurysm Of Sinus Of Valsalva	Oliguria, Bacterial endocarditis, Edema	ORPHA:1054
Stickler Syndrome	Myopia, Blindness, Short stature, Visual impairment	ORPHA:828
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Hyperkeratosis, Lymphedema	ORPHA:79280
Xeroderma Pigmentosum, Complementation Group B	Cutaneous photosensitivity, Progeroid facial appearance	OMIM:610651
Atrial Septal Defect, Coronary Sinus Type	Recurrent bacterial infections	ORPHA:99104
Williams Syndrome	Epicanthus, Abnormal fingernail morphology, Redundant skin, Prematurely aged appearance, Hypoplas...	ORPHA:904
Primary Sclerosing Cholangitis	Recurrent systemic pyogenic infections, Thyroiditis, Neoplasm of the gallbladder, Cholelithiasis,...	ORPHA:171
Lysinuric Protein Intolerance	Recurrent bacterial infections, Decreased response to growth hormone stimulation test, Pancreatitis	ORPHA:470
Yellow Fever	Acute pancreatitis, Anuria, Skin rash, Renal insufficiency, Pancreatic hyperplasia, Acute kidney ...	ORPHA:99829
Autosomal Recessive Hypophosphatemic Rickets	Renal phosphate wasting, Hyperphosphaturia, Abnormality of renal excretion, Enthesitis	ORPHA:289176
Mucopolysaccharidosis Type 2, Severe Form	Short stature, Nyctalopia, Peripheral visual field loss, Growth delay, Visual impairment	ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form	Short stature, Nyctalopia, Peripheral visual field loss, Growth delay, Visual impairment	ORPHA:217093
Mucopolysaccharidosis Type 2	Large central visual field defect, Short stature, Nyctalopia, Peripheral visual field loss, Growt...	ORPHA:580
Microphthalmia, Syndromic 6	Myopia, Blindness, Female hypogonadism, Cryptorchidism, Anterior hypopituitarism	OMIM:607932
Unilateral Polymicrogyria	Abnormal posturing	ORPHA:268943
Roberts-Sc Phocomelia Syndrome	Hypospadias, Polyhydramnios, Cryptorchidism, Long penis, Horseshoe kidney, Eyelid coloboma, Polyc...	OMIM:268300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Blindness, Decreased testicular size	OMIM:615287
Norrie Disease	Cryptorchidism, Blindness, Erectile dysfunction, Delayed puberty	ORPHA:649
Atrial Septal Defect, Ostium Secundum Type	Recurrent bacterial infections	ORPHA:99103
Pierson Syndrome	Blindness, High myopia	OMIM:609049
Keppen-Lubinsky Syndrome	Lack of facial subcutaneous fat, Progeroid facial appearance, Shallow orbits	OMIM:614098
Cardiogenic Shock	Oliguria	ORPHA:97292
Joubert Syndrome 5	Congenital blindness, Reduced visual acuity	OMIM:610188
Pmm2-Cdg	Epicanthus, Multiple joint contractures, Lipodystrophy, Hypogonadotropic hypogonadism, Elevated c...	ORPHA:79318
Microphthalmia, Syndromic 1	Growth delay, Cryptorchidism, Blindness	OMIM:309800
Hypermobile Ehlers-Danlos Syndrome	Decreased fertility, Abnormality of the menstrual cycle	ORPHA:285

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 Scd1

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 Scd1.

No publications found that use IMPC mice or data for Scd1.

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

MGI Allele	Allele Type	Produced
Scd1^{tm364261(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

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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