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Gene: Gsdma3 MGI:3044668

Gene Summary

Name:

gasdermin A3

Synonyms:

Fgn, Bsk, Rim3, Gsdm3, Rco2, Dfl, Gsdm1l

Order Alleles

IMPC Data Collections

Body Weight Measurements
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.

Phenotype	Allele	Zyg	Life Stage	P Value
increased lymphocyte cell number	Gsdma3^{tm1(KOMP)Vlcg}	HOM	Early adult	8.31×10^-08
increased mean corpuscular hemoglobin concentration	Gsdma3^{tm1(KOMP)Vlcg}	HOM	Early adult	1.91×10^-12
increased mean corpuscular hemoglobin	Gsdma3^{tm1(KOMP)Vlcg}	HOM	Early adult	1.37×10^-12
decreased hematocrit	Gsdma3^{tm1(KOMP)Vlcg}	HOM	Early adult	2.40×10^-06
decreased erythrocyte cell number	Gsdma3^{tm1(KOMP)Vlcg}	HOM	Early adult	1.20×10^-07

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lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Gsdma3 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 Gsdma3 (0 diseases)
Human diseases predicted to be associated with Gsdma3 (2416 diseases)

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

The table below shows human diseases predicted to be associated to Gsdma3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Alopecia Areata 2	Alopecia totalis, Alopecia universalis, Alopecia of scalp, Patchy alopecia	OMIM:610753
Alopecia-Intellectual Disability Syndrome 1	Alopecia universalis, Alopecia	OMIM:203650
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Alopecia Universalis Congenita	Absent pubic hair, Absent eyelashes, Absent eyebrow, Absent axillary hair, Alopecia universalis	OMIM:203655
Trichodysplasia-Xeroderma Syndrome	Trichorrhexis nodosa, Coarse hair, Brittle hair, Sparse scalp hair, Dry skin, Sparse body hair, S...	ORPHA:3361
Atrichia With Papular Lesions	Generalized papillary lesions, Sparse hair	OMIM:209500
Hypotrichosis Simplex	Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse hair, Alopecia	ORPHA:55654
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin	ORPHA:231249
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Ectodermal Dysplasia 6, Hair/Nail Type	Hair-nail ectodermal dysplasia, Dystrophic toenail, Thin toenail, Sparse hair, Alopecia	OMIM:614928
Hair Defect With Photosensitivity And Mental Retardation	Brittle hair, Cutaneous photosensitivity, Sparse eyelashes, Sparse eyebrow, Sparse hair, Coarse hair	OMIM:234030
Hypotrichosis 4	Uncombable hair, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Alopecia	OMIM:146550
Alopecia Areata 1	Patchy alopecia, Nail pits, Trachyonychia, Alopecia totalis, Alopecia universalis	OMIM:104000
Hypotrichosis 11	Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Sparse hair, Absent axillary hair,...	OMIM:615059
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair	ORPHA:1410
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Diamond-Blackfan Anemia-Like	Pure red cell aplasia, Steroid-responsive anemia	OMIM:617911
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Hypotrichosis 1	Abnormality of the nail, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse pubic hair, S...	OMIM:605389
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Steroid-responsive anemia, Anemia	OMIM:618312
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia of scalp, Alopecia	OMIM:260910
Erythrokeratodermia Variabilis Et Progressiva 5	Hyperkeratosis, Abnormal hair morphology, Onychogryposis, Palmoplantar hyperkeratosis	OMIM:617756
Keratosis, Focal Palmoplantar And Gingival	Gingival hyperkeratosis, Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkerat...	OMIM:148730
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1	Palmoplantar keratoderma, Congenital bullous ichthyosiform erythroderma, Perioral hyperkeratosis,...	OMIM:613000
Ichthyosis, Congenital, Autosomal Recessive 13	Hypergranulosis, Hyperkeratosis, Ichthyosis, Palmoplantar hyperkeratosis	OMIM:617574
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Marie Unna Hereditary Hypotrichosis	Sparse or absent eyelashes, Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, Coarse hair, Al...	ORPHA:444
Graham Little-Piccardi-Lassueur Syndrome	Sparse pubic hair, Sparse scalp hair, Sparse axillary hair, Alopecia	ORPHA:505
Uncombable Hair Syndrome 2	Juvenile cataract, Uncombable hair, Pili canaliculi	OMIM:617251
Tooth Agenesis, Selective, 8	Sparse eyebrow, Dry skin, Sparse hair	OMIM:617073
Transient Erythroblastopenia Of Childhood	Transient erythroblastopenia, Anemia	OMIM:227050
Bazex-Dupré-Christol Syndrome	Trichorrhexis nodosa, Coarse hair, Sparse or absent eyelashes, Sparse scalp hair, Macrotia, Spars...	ORPHA:113
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection	Pyoderma gangrenosum, Cutaneous abscess, Chronic furunculosis	OMIM:619986
Hypotrichosis 10	Abnormality of the nail, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow	OMIM:614238
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Ichthyosis Vulgaris	Dry skin, Eczematoid dermatitis	OMIM:146700
Ringed Hair Disease	Fine hair, Abnormal hair pattern	ORPHA:169
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Pili Bifurcati	Abnormality of hair texture, Abnormal hair morphology	ORPHA:720
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio	OMIM:613978
Anemia, Sideroblastic, 4	Sideroblastic anemia, Abnormal erythrocyte morphology	OMIM:182170
Epidermolysis Bullosa Simplex 1C, Localized	Hyperkeratosis	OMIM:131800
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Alopecia totalis	ORPHA:1014
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis	ORPHA:86923
Glycosylphosphatidylinositol Biosynthesis Defect 16	Elevated circulating alkaline phosphatase concentration	OMIM:617816
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Palmoplantar Keratoderma, Punctate Type Iii	Hyperkeratosis, Acrokeratosis	OMIM:101850
Dermatoleukodystrophy	Thickened skin, Hyperkeratosis	ORPHA:1659
Insulin-Resistance Syndrome Type A	Hyperkeratosis, Generalized hirsutism	ORPHA:2297
Woolly Hair, Autosomal Dominant	Coarse hair, Slow-growing hair, Abnormal eyelash morphology, Woolly hair, Abnormal eyebrow morpho...	OMIM:194300
Beta-Thalassemia, Dominant Inclusion Body Type	Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc...	OMIM:603902
Palmoplantar Keratoderma, Norrbotten Recessive Type	Palmoplantar keratoderma, Hyperkeratosis	OMIM:244850
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	Nail pits, Congenital alopecia totalis, Ridged nail	ORPHA:169095
Ichthyosis Hystrix, Lambert Type	Orthokeratotic hyperkeratosis, Hyperkeratosis	OMIM:146600
Anonychia With Flexural Pigmentation	Dry skin, Anonychia	OMIM:106750
Acne Inversa, Familial, 3	Recurrent cutaneous abscess formation, Acne inversa, Chronic furunculosis, Perifolliculitis	OMIM:613737
Ichthyosis, Lamellar, Autosomal Dominant	Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:146750
Dermatitis, Atopic	Facial erythema, Dry skin, Atopic dermatitis, Eczematoid dermatitis, Pruritus, Conjunctivitis, Re...	OMIM:603165
Odonto-Onycho Dysplasia-Alopecia Syndrome	Abnormal fingernail morphology, Sparse body hair, Sparse eyebrow, Sparse hair, Hypoplastic toenai...	ORPHA:2722
Ulerythema Ophryogenesis	Facial erythema, Contact dermatitis, Dry skin, Sparse lateral eyebrow, Acne	ORPHA:3406
Olmsted Syndrome 1	Nail dysplasia, Parakeratosis, Nail dystrophy, Hyperparakeratosis, Periorificial hyperkeratosis, ...	OMIM:614594
Palmoplantar Keratoderma-Deafness Syndrome	Palmoplantar keratoderma, Hyperkeratosis	ORPHA:2202
Quinquaud Folliculitis Decalvans	Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia, Pustule, Recurrent skin in...	ORPHA:346
Palmoplantar Keratoderma, Nagashima Type	Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:615598
Reticulate Acropigmentation Of Kitamura	Hyperkeratosis	OMIM:615537
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Slow-growing hair, Sparse scalp hair, Dry skin, Eczematoid dermatitis, Sparse eyelashes, Blephari...	OMIM:618535
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Trichothiodystrophy 2, Photosensitive	Tiger tail banding, Coarse hair, Cutaneous photosensitivity	OMIM:616390
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis	Sparse hair	OMIM:246500
Anonychia With Flexural Pigmentation	Alopecia of scalp, Abnormal hair morphology, Hyperkeratosis, Anonychia, Follicular hyperkeratosis	ORPHA:69125
Hypotrichosis 8	Coarse hair, Ridged nail, Sparse scalp hair, Woolly hair, Sparse eyelashes, Nail pits, Sparse eye...	OMIM:278150
Palmoplantar Keratoderma And Congenital Alopecia 2	Nail dysplasia, Nail dystrophy, Hyperkeratosis, Sclerodactyly, Developmental cataract, Palmoplant...	OMIM:212360
Bjornstad Syndrome	Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr...	OMIM:262000
Aredyld	Ectodermal dysplasia, Generalized hypotrichosis	OMIM:207780
Monilethrix	Brittle hair, Slow-growing hair, Abnormality of the nail, Abnormal eyelash morphology, Patchy alo...	ORPHA:573
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology	OMIM:300622
Parc Syndrome	Alopecia, Absent eyelashes, Absent eyebrow	OMIM:600331
Ectodermal Dysplasia-Syndactyly Syndrome 1	Coarse hair, Small nail, Ectodermal dysplasia, Sparse scalp hair, Patchy alopecia, Sparse eyelash...	OMIM:613573
Alpha-Thalassemia Myelodysplasia Syndrome	HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:300448
Pili Torti, Early-Onset	Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr...	OMIM:261900
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia of scalp, Onychogryposis of toenails, Dystrophic toenail, Sparse body hair, Alopecia	OMIM:617294
Amyloidosis, Primary Localized Cutaneous, 1	Scaling skin, Dry skin, Pruritus	OMIM:105250
Amyloidosis, Primary Localized Cutaneous, 3	Dry skin, Pruritus	OMIM:617920
Hidrotic Ectodermal Dysplasia	Nail dystrophy, Small nail, Thickened skin, Generalized hypotrichosis, Sparse axillary hair, Spar...	ORPHA:189
Ichthyosis, Congenital, Autosomal Recessive 11	Curly eyelashes, Brittle hair, Abnormality of the nail, Hyperkeratosis, Corneal opacity, Curly ha...	OMIM:602400
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal dystrophy, Corneal opacity	OMIM:609140
Elastoderma	Cutis laxa, Erysipelas, Premature skin wrinkling, Eczematoid dermatitis	ORPHA:228240
Corneal Dystrophy, Endothelial, X-Linked	Band keratopathy, Corneal dystrophy, Corneal opacity	OMIM:300779
Dermatoleukodystrophy	Macrotia, Premature skin wrinkling, Progeroid facial appearance	OMIM:221790
Dowling-Degos Disease 2	Hyperkeratotic papule, Follicular hyperkeratosis	OMIM:615327
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Porokeratosis Plantaris Palmaris Et Disseminata	Hyperkeratotic papule, Porokeratosis, Palmoplantar hyperkeratosis	ORPHA:737
Dermoodontodysplasia	Nail dysplasia, Dry skin, Trichodysplasia	OMIM:125640
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Congenital Panfollicular Nevus	Hyperkeratosis	ORPHA:139414
Erosive Pustular Dermatosis Of The Scalp	Pustule, Abnormal hair morphology, Erythema, Scarring alopecia of scalp	ORPHA:222
Kerion Celsi	Lymphadenopathy, Inflammatory abnormality of the skin, Recurrent cutaneous abscess formation, Rec...	ORPHA:499
Angioma Serpiginosum, X-Linked	Hyperkeratosis, Nail dystrophy, Fine hair, Sparse hair	OMIM:300652
Porokeratosis Of Mibelli	Hyperkeratosis, Porokeratosis	ORPHA:735
Proliferating Trichilemmal Cyst	Skin ulcer, Sparse scalp hair	ORPHA:492
Ichthyosis-Hypotrichosis Syndrome	Sparse hair	ORPHA:91132
Intellectual Developmental Disorder, X-Linked 97	Macrotia, Synophrys	OMIM:300803
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Hyperkeratosis	OMIM:615028
Erythrocytosis, Familial, 3	Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit	OMIM:609820
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Protruding ear, Woolly hair, Sparse hair	OMIM:278200
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha...	ORPHA:170
Ichthyosis, Hystrix-Like, With Deafness	Ichthyosis, Scarring alopecia of scalp, Hyperkeratosis, Absent eyelashes, Cobblestone-like hyperk...	OMIM:602540
Parana Hard Skin Syndrome	Thickened skin, Hyperkeratosis, Generalized hirsutism	ORPHA:2812
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Abnormal hair morphology, Dry skin, Abnormal fingernail morphology, Abnormal toenail morphology, ...	ORPHA:248
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Recessive X-Linked Ichthyosis	Opacification of the corneal stroma, Hyperkeratosis, Ichthyosis	ORPHA:461
Dissecting Cellulitis Of The Scalp	Recurrent skin infections, Pruritus, Abnormal hair morphology	ORPHA:345
Erythrocytosis, Familial, 7	Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit	OMIM:617981
Erythrocytosis, Familial, 6	Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit	OMIM:617980
Woolly Hair, Autosomal Recessive 3	Trichorrhexis nodosa, Sparse scalp hair, Curly hair, Sparse eyelashes, Sparse hair, Fine hair	OMIM:616760
Ectodermal Dysplasia 5, Hair/Nail Type	Absent toenail, Dystrophic fingernails, Sparse scalp hair, Hair-nail ectodermal dysplasia	OMIM:614927
Erythrocytosis, Familial, 5	Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit	OMIM:617907
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Scaling skin, Palmoplantar scaling skin, Dry skin, Atopic dermatitis, Concave nail, Erythema	ORPHA:530838
Hyperkeratosis-Hyperpigmentation Syndrome	Hyperkeratosis	ORPHA:1336
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Brittle hair, Sensorineural hearing impairment, Hidrotic ectodermal dysplasia, Sparse hair, Coars...	ORPHA:1883
Rothmund-Thomson Syndrome, Type 1	Nail dystrophy, Thin nail, Juvenile cataract, Absent eyelashes, Hyperkeratosis, Absent eyebrow, S...	OMIM:618625
Rodrigues Blindness	Microphthalmia, Microcornea, Ectodermal dysplasia, Sclerocornea, Sparse hair, Protruding ear, Fin...	OMIM:268320
L-Ferritin Deficiency	Alopecia	OMIM:615604
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Diamond-Blackfan Anemia 18	Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia	OMIM:618310
Ichthyosis Hystrix Of Curth-Macklin	Hyperkeratosis, Nail dystrophy, Ichthyosis, Diffuse palmoplantar hyperkeratosis	ORPHA:79503
Acrokeratoderma, Hereditary Papulotranslucent	Fine hair	OMIM:101840
Corneal Dystrophy-Perceptive Deafness Syndrome	Corneal dystrophy, Corneal opacity	ORPHA:1490
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Ridged nail, Slow-growing hair, Dry skin, Sparse eyelashes, Sparse eyebrow, Sparse hair, Fine hair	OMIM:129490
Otoonychoperoneal Syndrome	Abnormality of the nail, Low-set ears, Macrotia, Prominent superior crus of antihelix, Posteriorl...	OMIM:259780
Chilblain Lupus 1	Abnormality of the nail, Skin ulcer, Chilblains	OMIM:610448
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Anemia, Abnormal hemoglobin	ORPHA:3319
Erythrokeratoderma ''En Cocardes''	Hyperkeratosis	ORPHA:315
Peeling Skin Syndrome 3	White scaling skin, Erythema, Pruritus, Abnormal hair morphology	OMIM:616265
Classic Mycosis Fungoides	Skin ulcer, Erythema, Abnormality of the nail, Skin rash, Dry skin, Eczematoid dermatitis, Prurit...	ORPHA:2584
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Hypopigmentation of hair, Corneal opacity, Persistent pupillary membrane, Cataract, Aplasia/Hypop...	ORPHA:1067
Cyanosis, Transient Neonatal	Anemia, Methemoglobinemia, Reticulocytosis	OMIM:613977
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Erythrocytosis, Familial, 4	Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit	OMIM:611783
Monilethrix	Nail dysplasia, Nail dystrophy, Brittle hair, Abnormality of hair texture, Sparse hair, Alopecia	OMIM:158000
Diffuse Palmoplantar Keratoderma, Bothnian Type	Skin ulcer, Erythema, Pruritus	ORPHA:2337
Heinz Body Anemias	Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies	OMIM:140700
Pili Torti-Onychodysplasia Syndrome	Nail dystrophy, Brittle hair, Absent eyelashes, Dry skin, Absent eyebrow, Eczematoid dermatitis, ...	ORPHA:2890
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome	Dry skin	ORPHA:2271
Ichthyosis, X-Linked	Palmoplantar keratoderma, Opacification of the corneal stroma, Ichthyosis, Congenital ichthyosifo...	OMIM:308100
Pili Torti	Brittle hair, Abnormality of the nail, Abnormality of hair texture, Hearing impairment, Abnormal ...	ORPHA:2889
Alpha-Thalassemia	Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Glycosylphosphatidylinositol Biosynthesis Defect 25	Coarse hair, Sparse hair	OMIM:619985
Trichodysplasia-Amelogenesis Imperfecta Syndrome	Trichodysplasia, Alopecia of scalp	ORPHA:79129
Cataract-Microcornea Syndrome	Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma	ORPHA:1377
Macdermot-Winter Syndrome	Highly arched eyebrow, Macrotia, Low anterior hairline, Posteriorly rotated ears, Frontal upsweep...	OMIM:247990
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome	Abnormality of hair texture, Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the ey...	ORPHA:2891
Hypotrichosis 5	Absent pubic hair, Abnormal sweat gland morphology, Abnormality of the nail, Sparse eyelashes, Th...	OMIM:612841
Trichothiodystrophy 7, Nonphotosensitive	Ichthyosis, Brittle hair, Tiger tail banding, Congenital nonbullous ichthyosiform erythroderma, F...	OMIM:618546
Immunodeficiency 51	Chronic oral candidiasis, Recurrent otitis media, Chronic mucocutaneous candidiasis, Pustular ras...	OMIM:613953
Hypertrichosis Lanuginosa Congenita	Congenital, generalized hypertrichosis, Double eyebrow	OMIM:145700
Peeling Skin Syndrome 1	Scaling skin, Nail dystrophy, Brittle hair, Onycholysis, Erythroderma, Pruritus	OMIM:270300
Erythrokeratodermia Variabilis	Abnormal hair morphology, Abnormality of the nail, Cutaneous photosensitivity, Hyperkeratosis, Sk...	ORPHA:317
Ichthyosis, Congenital, Autosomal Recessive 10	Generalized ichthyosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Congenital nonbullous icht...	OMIM:615024
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant	Generalized hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Congenital nonbullou...	OMIM:620150
Osteopenia And Sparse Hair	Sparse hair	OMIM:259690
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Abnormality of the nail, Sparse scalp hair, Reduced terminal:vellus ratio, Sparse hair, Pili torti	OMIM:601553
Focal Palmoplantar And Gingival Keratoderma	Abnormality of the nail, Gingival hyperkeratosis, Focal friction-related palmoplantar hyperkerato...	ORPHA:2200
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type	Nail dystrophy, Onychogryposis of toenails, Abnormality of the nail, Abnormal hair morphology, Sp...	ORPHA:1808
Huriez Syndrome	Abnormality of the nail, Lack of skin elasticity, Dry skin, Small nail	ORPHA:384
Erythrokeratodermia Variabilis Et Progressiva 4	Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Palmoplantar hyperkeratosis	OMIM:617526
Ectodermal Dysplasia 4, Hair/Nail Type	Hair-nail ectodermal dysplasia, Nail dystrophy, Brittle hair, Abnormal sweat gland morphology, Ab...	OMIM:602032
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Nail dystrophy, Alopecia	OMIM:616487
Epidermolytic Palmoplantar Keratoderma	Diffuse palmoplantar hyperkeratosis, Hypergranulosis, Abnormal fingernail morphology, Hyperhidros...	ORPHA:2199
Uncombable Hair Syndrome 3	Curly hair, Uncombable hair, Pili canaliculi, Brittle hair	OMIM:617252
Bullous Dystrophy, Hereditary Macular Type	Abnormality of the nail, Acrocyanosis, Alopecia totalis	OMIM:302000
Vohwinkel Syndrome, Variant Form	Parakeratosis, Abnormal hair morphology, Hyperkeratosis, Honeycomb palmoplantar hyperkeratosis, H...	OMIM:604117
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Nail pits, Nail dystrophy, Ridged nail, Alopecia	OMIM:601705
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Corneal dystrophy, Corneal opacity	ORPHA:3177
Candidiasis, Familial, 1	Alopecia	OMIM:114580
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Scaling skin, Alopecia of scalp, Absent pubic hair, Dry skin, Cutis laxa, Sparse eyebrow, Absent ...	ORPHA:2269
Diamond-Blackfan Anemia 3	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:610629
Glaucoma 3, Primary Congenital, D	Primary congenital glaucoma, Ectopia lentis, Corneal opacity	OMIM:613086
Aquagenic Palmoplantar Keratoderma	Excessive skin wrinkling on dorsum of hands and fingers, Palmar pruritus, Atopic dermatitis, Orth...	ORPHA:498359
Ectodermal Dysplasia 9, Hair/Nail Type	Absent hair, Nail dystrophy, Abnormal sweat gland morphology, Abnormal sebaceous gland morphology...	OMIM:614931
Ectodermal Dysplasia 7, Hair/Nail Type	Hair-nail ectodermal dysplasia, Dystrophic fingernails, Brittle hair, Abnormal sweat gland morpho...	OMIM:614929
Peeling Skin Syndrome 6	Scaling skin, Dry skin, Pruritus, Atopic dermatitis	OMIM:618084
Epidermolysis Bullosa Dystrophica, Pretibial	Hyperkeratosis, Nail dystrophy	OMIM:131850
X-Linked Dominant Chondrodysplasia Punctata	Scaling skin, Microphthalmia, Scarring alopecia of scalp, Abnormality of the nail, Sensorineural ...	ORPHA:35173
Keratoderma Hereditarium Mutilans With Ichthyosis	Parakeratosis, Nail dystrophy, Onychogryposis, Generalized ichthyosis, Hyperkeratosis, Congenital...	ORPHA:79395
Myeloproliferative Disease, Autosomal Recessive	Reduced leukocyte alkaline phosphatase	OMIM:254700
Thumb Deformity And Alopecia	Alopecia	OMIM:188150
Moynahan Syndrome	Hyperkeratosis, Sparse hair, Alopecia	ORPHA:2574
Acquired Ichthyosis	Recurrent skin infections, Erythema, Pruritus, Dry skin	ORPHA:454
Non-Acquired Isolated Growth Hormone Deficiency	Prolonged neonatal jaundice, Premature skin wrinkling, Sparse hair	ORPHA:631
Amaurosis-Hypertrichosis Syndrome	Abnormal eyelash morphology, Thick eyebrow, Coarse hair, Synophrys	ORPHA:1021
Immunoerythromyeloid Hypoplasia	Absent leukocyte alkaline phosphatase	OMIM:242880
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Dystrophic fingernails, Nail dystrophy, Facial erythema, Scarring alopecia of scalp, Folliculitis...	OMIM:308800
Ectodermal Dysplasia-Syndactyly Syndrome 2	Congenital bullous ichthyosiform erythroderma, Hyperhidrosis, Sparse hair, Palmoplantar keratoder...	OMIM:613576
Schopf-Schulz-Passarge Syndrome	Narrow nail, Nail dystrophy, Thin nail, Ridged nail, Small nail, Dry skin, Poroma, Apocrine hidro...	OMIM:224750
Epidermolytic Hyperkeratosis 1	Erythroderma, Scaling skin	OMIM:113800
Porphyria Cutanea Tarda	Cutaneous photosensitivity, Fragile skin, Onycholysis, Facial hypertrichosis, Alopecia	OMIM:176100
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Chronic oral candidiasis, Recurrent otitis media, Chronic mucocutaneous candidiasis, Dry skin, At...	OMIM:618282
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Nail dystrophy, Yellow nails, Orthokeratotic hyperkeratosis, Onycholysis, Hyperhidrosis, Streaks ...	OMIM:148700
Flynn-Aird Syndrome	Cataract, Hyperkeratosis, Alopecia of scalp, Alopecia	OMIM:136300
Congenital Lethal Erythroderma	Congenital exfoliative erythroderma, Dry skin	ORPHA:1954
Crandall Syndrome	Brittle hair, Abnormal testis morphology, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Fi...	ORPHA:202
Hypotrichosis 6	Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti, Follicular hyperkeratosis	OMIM:607903
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Microphthalmia, Corneal opacity	ORPHA:2432
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Ridged nail, Hyperkeratosis, Dystrophic toenail, Absent toenail, Abnormal fingernail morphology, ...	ORPHA:89838
Galactosialidosis	Corneal opacity	ORPHA:351
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Parakeratosis, Nail dystrophy, Ichthyosis, Linear arrays of macular hyperkeratoses in flexural ar...	OMIM:601952
11P15.4 Microduplication Syndrome	Highly arched eyebrow, Macrotia, Posteriorly rotated ears, Synophrys	ORPHA:300305
Microphthalmia, Syndromic 8	Microcornea, Microphthalmia, Premature skin wrinkling	OMIM:601349
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures	Sparse lateral eyebrow, High anterior hairline, Elevated circulating alkaline phosphatase concent...	OMIM:618879
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Reduced erythrocyte adenylate kinase activity, Hemolytic anemia	OMIM:612631
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Alopecia universalis, Abnormal eyelash morphology, Sparse body hair, Sparse scalp hair	ORPHA:1008
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis	OMIM:619398
Microphthalmia, Isolated, With Cataract 1	Cataract, Microphthalmia	OMIM:156850
Palmoplantar Keratoderma And Congenital Alopecia 1	Nail dysplasia, Leukonychia, Brittle hair, Sparse eyebrow, Sparse hair, Palmoplantar keratoderma,...	OMIM:104100
Uv-Sensitive Syndrome 3	Dry skin	OMIM:614640
Winchester Syndrome	Hirsutism, Corneal opacity	OMIM:277950
Acrogeria	Skin ulcer, Excessive wrinkled skin, Prematurely aged appearance, Thin skin, Telangiectasia of th...	ORPHA:2500
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Microcornea, Iris coloboma, Follicular hyperkeratosis	OMIM:615147
Cutis Laxa, Autosomal Dominant 2	Cutis laxa, Premature skin wrinkling	OMIM:614434
Erythema Nodosum, Familial	Erythema nodosum, Erythema	OMIM:132990
Autosomal Dominant Epidermolytic Ichthyosis	Ichthyosis, Conjunctival hamartoma, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma...	ORPHA:312
Dracunculiasis	Skin ulcer, Arthritis, Skin rash, Recurrent cutaneous abscess formation, Pruritus	ORPHA:231
Clouston Syndrome	Nail dysplasia, Nail dystrophy, Brittle hair, Small nail, Absent pubic hair, Slow-growing hair, E...	OMIM:129500
Ectodermal Dysplasia/Skin Fragility Syndrome	Scaling skin, Alopecia of scalp, Nail dystrophy, Dystrophic fingernails, Absent eyelashes, Ectode...	OMIM:604536
Otoonychoperoneal Syndrome	Popliteal pterygium, Abnormal antihelix morphology, Aplasia/Hypoplasia of the earlobes, Abnormal ...	ORPHA:2793
Trichothiodystrophy 4, Nonphotosensitive	Nail dysplasia, Trichorrhexis nodosa, Nail dystrophy, Microphthalmia, Small nail, Brittle hair, A...	OMIM:234050
Ectodermal Dysplasia-Blindness Syndrome	Hyperkeratosis, Corneal dystrophy, Microcornea, Hypohidrosis, Abnormal fingernail morphology, Scl...	ORPHA:1806
Hypotrichosis 7	Brittle hair, Abnormality of the nail, Abnormal sweat gland morphology, Sparse scalp hair, Woolly...	OMIM:604379
Mucous Membrane Pemphigoid	Corneal opacity	ORPHA:46486
Hypertrichosis, Anterior Cervical	Anterior cervical hypertrichosis	OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type	Congenital, generalized hypertrichosis	OMIM:145701
Dermoodontodysplasia	Trichodysplasia, Toenail dysplasia, Sparse scalp hair, Dry skin, Sparse body hair, Fingernail dys...	ORPHA:1660
Bazex-Dupre-Christol Syndrome	Trichorrhexis nodosa, Trichoepithelioma, Sparse hair, Pili torti, Coarse hair	OMIM:301845
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Corneal Dystrophy, Groenouw Type I	Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy	OMIM:121900
Woolly Hair Nevus	Woolly scalp hair, Persistent pupillary membrane, Heterochromia iridis, Curly hair, Congenital po...	ORPHA:79414
Microphthalmia/Coloboma 4	Microcornea, Microphthalmia	OMIM:251505
Neutrophilia, Hereditary	Elevated leukocyte alkaline phosphatase	OMIM:162830
Inflammatory Skin And Bowel Disease, Neonatal, 1	Perioral erythema, Perianal erythema, Blepharitis, Pustule, Erythroderma, Paronychia, Onychogryposis	OMIM:614328
Lipoid Proteinosis Of Urbach And Wiethe	Thickened skin, Hyperkeratosis, Patchy alopecia	OMIM:247100
Hereditary Mucoepithelial Dysplasia	Hyperkeratosis, Corneal dystrophy, Sparse hair, Cataract, Fine hair, Alopecia	ORPHA:1839
Morquio Syndrome C	Corneal opacity	OMIM:252300
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Olmsted Syndrome, X-Linked	Parakeratosis, Subungual hyperkeratosis, Hyperkeratosis, Alopecia totalis, Palmoplantar hyperkera...	OMIM:300918
Woolly Hair-Skin Fragility Syndrome	Palmoplantar keratoderma, Acantholysis, Woolly hair	OMIM:620415
Olmsted Syndrome 2	Parakeratosis, Perioral hyperkeratosis, Hyperkeratosis, Woolly hair, Sparse hair, Palmoplantar hy...	OMIM:619208
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Nail dystrophy, Brittle hair, Abnormal pinna morphology, Coarse hair, Alopecia	ORPHA:75389
Lamellar Ichthyosis	Chronic otitis media, Abnormality of the nail, Dry skin, Lack of skin elasticity, Sparse hair, Ap...	ORPHA:313
Pierpont Syndrome	Abnormal subcutaneous fat tissue distribution, High anterior hairline, Microphthalmia, Microcorne...	ORPHA:487825
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Eosinophilia, Familial	Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis	OMIM:131400
Choroidal Atrophy-Alopecia Syndrome	Supernumerary nipple, Sparse or absent eyelashes, Ectodermal dysplasia, Abnormal fingernail morph...	ORPHA:1433
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Grubben-De Cock-Borghgraef Syndrome	Dry skin, Eczematoid dermatitis	ORPHA:2101
Gómez-López-Hernández Syndrome	Corneal opacity, Alopecia of scalp, Low-set ears, Toenail dysplasia	ORPHA:1532
Ichthyosis, Congenital, Autosomal Recessive 14	Orthokeratotic hyperkeratosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:617571
Acrokeratosis Verruciformis	Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Acantholysis, Acrokeratosis	OMIM:101900
Verrucous Hemangioma	Hyperkeratotic papule	ORPHA:464318
Cervical Hypertrichosis With Underlying Kyphoscoliosis	Thoracic hypertrichosis, Sacral hypertrichosis, Lumbar hypertrichosis, Anterior cervical hypertri...	OMIM:117850
Cutis Laxa, Autosomal Recessive, Type Iia	Excessive wrinkled skin, Brittle hair, Abnormality of hair texture, Redundant skin, Low-set ears,...	OMIM:219200
Glutathione Peroxidase Deficiency	Compensated hemolytic anemia, Heinz bodies	OMIM:614164
Ring Chromosome 6 Syndrome	Macrotia, Low posterior hairline	ORPHA:1448
Focal Facial Dermal Dysplasia 3, Setleis Type	Distichiasis, Low anterior hairline, Sparse hair, Aged leonine appearance, Absent lower eyelashes	OMIM:227260
Warburg Micro Syndrome 1	Microphthalmia, Microcornea, Low-set ears, Macrotia, Developmental cataract, Facial hypertrichosi...	OMIM:600118
Björnstad Syndrome	Alopecia, Brittle hair	ORPHA:123
Cole Disease	Abnormal hair morphology, Abnormality of the nail, Hyperkeratosis, Hypergranulosis, Palmoplantar ...	OMIM:615522
Microphthalmia, Isolated 2	Opacification of the corneal stroma, Microphthalmia	OMIM:610093
Incontinentia Pigmenti	Nail dysplasia, Breast hypoplasia, Nail dystrophy, Microphthalmia, Erythema, Ridged nail, Breast ...	OMIM:308300
Thiel-Behnke Corneal Dystrophy	Recurrent corneal erosions, Astigmatism, Subepithelial corneal opacities, Central corneal dystrop...	ORPHA:98960
Thyrotropin-Releasing Hormone Deficiency	Dry skin	OMIM:275120
Paget Disease Of Bone 4	Elevated circulating alkaline phosphatase concentration	OMIM:606263
Palmoplantar Keratoderma And Woolly Hair	Leukonychia, Sparse scalp hair, Woolly hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, ...	OMIM:616099
Ichthyosis With Erythrokeratoderma	Scaling skin, Leukonychia, Erythema, Nail pits, Erythroderma, Pruritus	OMIM:620507
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Palmar hyperkeratosis, Hyperkeratosis, Nail dystrophy, Plantar hyperkeratosis	ORPHA:79399
Pityriasis Rubra Pilaris	Abnormality of the nail, Eczematoid dermatitis, Pustule, Subungual hyperkeratosis, Erythroderma, ...	ORPHA:2897
X-Linked Corneal Dermoid	Corneal opacity, Abnormal pupil morphology	ORPHA:1661
Ichthyosis With Confetti	Scaling skin, Hypoplastic nipples, Hypertrichosis, Erythroderma, Pruritus	OMIM:609165
Hypotrichosis 12	Sparse or absent eyelashes, Abnormal sweat gland morphology, Abnormality of the nail, Slow-growin...	OMIM:615885
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Splenomegaly	OMIM:606445
Hidrotic Ectodermal Dysplasia, Halal Type	Nail dysplasia, Absent eyelashes, Sparse scalp hair, Absent eyebrow, Sparse body hair, Abnormal f...	ORPHA:1809
Lattice Corneal Dystrophy Type I	Recurrent corneal erosions, Astigmatism, Central posterior corneal opacity, Central opacification...	ORPHA:98964
Keratoderma Hereditarium Mutilans	Ichthyosis, Abnormality of the nail, Hyperkeratosis, Abnormal toenail morphology, Honeycomb palmo...	ORPHA:494
Chilblain Lupus	Skin ulcer, Malar rash, Skin rash, Discoid lupus rash, Inflammatory abnormality of the skin, Prur...	ORPHA:90280
Netherton Syndrome	Trichorrhexis nodosa, Abnormal hair morphology, Skin rash, Sparse scalp hair, Dry skin, Eczematoi...	ORPHA:634
Benign Cephalic Histiocytosis	Skin rash, Inflammatory abnormality of the skin	ORPHA:157997
Central Cloudy Dystrophy Of Francois	Corneal dystrophy, Central corneal dystrophy	OMIM:217600
Schnyder Corneal Dystrophy	Corneal dystrophy, Crystalline corneal dystrophy	OMIM:121800
Uv-Sensitive Syndrome 1	Dry skin	OMIM:600630
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Recurrent corneal erosions, Trichiasis, Nail dystrophy, Nail dysplasia, Ichthyosis, Absent pubic ...	OMIM:148210
Ichthyosis, Congenital, Autosomal Recessive 1	Nail dysplasia, Parakeratosis, Nail dystrophy, Ichthyosis, Congenital nonbullous ichthyosiform er...	OMIM:242300
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Onychogryposis of fingernail, Urticaria, Ridged fingernail, Sparse hair, Fingernail dysplasia, Al...	ORPHA:2251
Uncombable Hair Syndrome 1	Uncombable hair, Pili canaliculi, Dry hair	OMIM:191480
Syndromic Recessive X-Linked Ichthyosis	Hyperkeratosis, Ichthyosis, Corneal opacity	ORPHA:281090
Infantile Digital Fibromatosis	Hyperkeratosis, Parakeratosis	ORPHA:199267
Schöpf-Schulz-Passarge Syndrome	Ectodermal dysplasia, Facial telangiectasia, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Alop...	ORPHA:50944
Cataract 21, Multiple Types	Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, Cerulean cataract, I...	OMIM:610202
Bathing Suit Ichthyosis	Parakeratosis, Nail dystrophy, Ichthyosis, Hypohidrosis, Thickened skin, Congenital nonbullous ic...	ORPHA:100976
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome	Skin ulcer, Generalized hirsutism, Osteomyelitis	ORPHA:2218
Cornea Plana 2, Autosomal Recessive	Corneal arcus, Microphthalmia, Decreased corneal thickness, Corneal opacity, Sclerocornea, Flat c...	OMIM:217300
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Trisomy 4P	Low-set, posteriorly rotated ears, Abnormal antihelix morphology, Macrotia, Low anterior hairline...	ORPHA:1738
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Toenail dysplasia, Sparse scalp hair, Abnormal fingernail morphology, Ectopia lentis, Hypoplastic...	ORPHA:2325
Night Blindness, Congenital Stationary, Type 1C	Dry skin	OMIM:613216
Mucoepithelial Dysplasia, Hereditary	Nail dysplasia, Nail dystrophy, Corneal neovascularization, Chronic monilial nail infection, Kera...	OMIM:158310
Hypotrichosis With Juvenile Macular Degeneration	Brittle hair, Hyperkeratosis, Sparse scalp hair, Fine hair, Pili torti	ORPHA:1573
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Nail dysplasia, Nail dystrophy, Facial erythema, Scarring alopecia of scalp, Sparse eyelashes, Sp...	OMIM:612843
Fetal Hydantoin Syndrome	Hearing abnormality, Hypoplastic fingernail, Low-set, posteriorly rotated ears, Abnormal pinna mo...	ORPHA:1912
Tyrosinemia Type 2	Abnormality of the nail, Hyperkeratosis, Corneal opacity, Hyperhidrosis, Palmoplantar keratoderma	ORPHA:28378
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder	Highly arched eyebrow, Macrotia, Cataract	OMIM:616154
Ichthyosis, Congenital, Autosomal Recessive 2	Thin nail, Abnormal hair morphology, Small nail, Congenital ichthyosiform erythroderma, Hyperkera...	OMIM:242100
Oliver-Mcfarlane Syndrome	Long eyebrows, Long eyelashes, Sparse hair, Central heterochromia, Alopecia	OMIM:275400
Gorlin-Chaudhry-Moss Syndrome	Astigmatism, Conductive hearing impairment, Generalized hirsutism, Low anterior hairline, Scleroc...	ORPHA:2095
Cardiofaciocutaneous Syndrome 2	Low-set ears, Absent eyebrow, Curly hair, Posteriorly rotated ears, Sparse hair, Fine hair	OMIM:615278
Hypotrichosis Simplex Of The Scalp	Slow-growing scalp hair, Parakeratosis, Alopecia of scalp, Hyperkeratosis, Sparse scalp hair, Fin...	ORPHA:90368
Familial Reactive Perforating Collagenosis	Maculopapular exanthema, Perifolliculitis, Inflammatory abnormality of the skin, Crusting erythem...	ORPHA:79147
Pseudopelade Of Brocq	Abnormal hair morphology, Abnormality of the nail, Sparse scalp hair, Aplasia/Hypoplasia of the e...	ORPHA:129
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Alopecia totalis, Nail dystrophy, Lack of skin elasticity, Cataract	ORPHA:1366
Intellectual Developmental Disorder, Autosomal Dominant 34	Hearing impairment, Coarse hair, Synophrys, Curly hair	OMIM:616351
Woronets Trait	Red blood cell keratocytosis	OMIM:194320
Macular Dystrophy, Corneal	Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea	OMIM:217800
Alopecia-Intellectual Disability Syndrome	Sparse scalp hair, Hearing impairment, Macrotia, Sparse body hair, Aplasia/Hypoplasia of the eyeb...	ORPHA:2850
Cataract 9, Multiple Types	Microphthalmia, Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma	OMIM:604219
Acrokeratosis Verruciformis Of Hopf	Nail dystrophy, Leukonychia, Hyperkeratosis, Anonychia, Punctate palmoplantar hyperkeratosis, Hyp...	ORPHA:79151
Microphthalmia/Coloboma 3	Cataract, Microphthalmia, Iris coloboma	OMIM:610092
Anterior Segment Dysgenesis 7	Ocular anterior segment dysgenesis, Microphthalmia, Microcornea, Corneal opacity, Sclerocornea, C...	OMIM:269400
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Dystrophic fingernails, Dystrophic toenail, Sparse scalp hair, Hypohidrosis, Sparse eyebrow, Fine...	ORPHA:1882
Trichothiodystrophy 1, Photosensitive	Trichorrhexis nodosa, Nail dystrophy, Microphthalmia, Keratoconjunctivitis sicca, Small nail, Bri...	OMIM:601675
Hypotrichosis 9	Abnormality of the nail, Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Sparse...	OMIM:614237
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocytopenia, Monocyt...	OMIM:614470
Trichodental Dysplasia	Slow-growing hair, Fine hair, Sparse hair, Brittle hair	OMIM:601453
Ramon Syndrome	Abnormal anterior chamber morphology, Hyperkeratosis, Generalized hirsutism	ORPHA:3019
Deafness, X-Linked 7	Stenosis of the external auditory canal, Unilateral microphthalmos, Hearing impairment, Atresia o...	OMIM:301018
Galloway-Mowat Syndrome 9	Macrotia, Low-set ears, Coarse hair	OMIM:619603
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent pneumonia, Recurrent sinusitis, Atrophic gastritis, Bronchiectasis, Recurrent skin infe...	OMIM:616576
Porokeratosis 3, Multiple Types	Parakeratosis, Nail dystrophy, Porokeratosis	OMIM:175900
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis	OMIM:603529
Chilblain Lupus 2	Chilblains, Cutaneous photosensitivity	OMIM:614415
Ring Dermoid Of Cornea	Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnormal con...	OMIM:180550
Intellectual Developmental Disorder, X-Linked 45	Protruding ear, Macrotia	OMIM:300498
Keratitis, Hereditary	Opacification of the corneal stroma, Keratitis	OMIM:148190
Witkop Syndrome	Ridged nail, Abnormal sweat gland morphology, Hypoplastic fifth toenail, Nail pits, Sparse hair, ...	OMIM:189500
Bilateral Striopallidodentate Calcinosis	Corneal opacity	ORPHA:1980
Fatty Acyl-Coa Reductase 1 Deficiency	Highly arched eyebrow, Macrotia, Juvenile cataract	ORPHA:438178
Aicardi-Goutieres Syndrome 5	Scaling skin, Dry skin, Chilblains	OMIM:612952
Linear Verrucous Nevus Syndrome	Hyperkeratosis, Sparse scalp hair, Cataract, Abnormal cornea morphology, Iris coloboma	ORPHA:2611
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma	OMIM:271310
Craniosynostosis-Mental Retardation-Clefting Syndrome	Dry skin	OMIM:218650
Ectodermal Dysplasia, Trichoodontoonychial Type	Abnormal eyelash morphology, Sparse body hair, Abnormal toenail morphology, Sparse hair, Aplasia/...	ORPHA:1818
Palmoplantar Keratoderma, Epidermolytic, 2	Curly hair	OMIM:620411
Peeling Skin Syndrome 4	Nail dystrophy, Ichthyosis, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis	OMIM:607936
Ichthyosis, Annular Epidermolytic, 1	Ichthyosis, Hyperparakeratosis, Abnormal hair morphology, Abnormality of the nail, Congenital bul...	OMIM:607602
Progeroid Syndrome, Petty Type	Low-set, posteriorly rotated ears, Brittle hair, Abnormality of the nail, Abnormal hair morpholog...	ORPHA:2963
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Woolly hair	OMIM:610476
Ichthyosis, Congenital, Autosomal Recessive 8	Hyperkeratosis, Ichthyosis, Orthokeratosis, Hypergranulosis	OMIM:613943
Pseudoprogeria Syndrome	Absent eyelashes, Absent eyebrow, Thin skin, Sparse eyebrow, Sparse hair, Alopecia	ORPHA:2985
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr...	OMIM:133100
Sabinas Brittle Hair Syndrome	Nail dysplasia, Nail dystrophy, Brittle hair, Sparse hair, Dry hair	OMIM:211390
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Hearing impairment, Fragile nails, Fine hair	ORPHA:500166
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Microcornea, Follicular hyperkeratosis	ORPHA:300179
Pemphigus Foliaceus	Scaling skin, Erythema, Pustule, Erythroderma, Skin vesicle, Psoriasiform dermatitis, Crusting er...	ORPHA:79481
Combined Oxidative Phosphorylation Deficiency 36	Sensorineural hearing impairment, Low-set ears, Premature skin wrinkling	OMIM:617950
Anterior Segment Dysgenesis 8	Microphakia, Iris transillumination defect, Iridodonesis, Corneal stromal edema, Corneal opacity,...	OMIM:617319
Hypotrichosis And Recurrent Skin Vesicles	Leukonychia, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse axilla...	OMIM:613102
Erythrokeratodermia Variabilis Et Progressiva 3	Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis, Orthokeratosis	OMIM:617525
Cataract 11, Multiple Types	Cataract, Microphthalmia, Developmental cataract	OMIM:610623
Complex Regional Pain Syndrome	Abnormality of hair growth, Slow-growing nails, Erythema, Dry skin	ORPHA:83452
Chronic Actinic Dermatitis	Late onset atopic dermatitis, Allergic rhinitis, Eczematoid dermatitis, Erythroderma, Pruritus	ORPHA:330064
Phenylketonuria	Dry skin, Fair hair, Eczematoid dermatitis	OMIM:261600
Ectodermal Dysplasia With Mental Retardation And Syndactyly	Sparse eyebrow, Dry skin, Onychogryposis of toenails	OMIM:600906
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Abnormal subcutaneous fat tissue distribution, Redundant neck skin, Excessive wrinkled skin, Thic...	ORPHA:357074
Porokeratosis 7, Multiple Types	Parakeratosis, Porokeratosis	OMIM:614714
Porokeratosis 1, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175800
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Nail dysplasia, Nail dystrophy, Cutaneous photosensitivity, Skin fragility with non-scarring blis...	ORPHA:79397
Carvajal Syndrome	Woolly hair	ORPHA:65282
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Bitot spots of the conjunctiva, Follicular hyperkeratosis	OMIM:277350
Hypergonadotropic Hypogonadism And Partial Alopecia	Streak ovary, Alopecia	OMIM:241090
Foveal Hypoplasia 2	Microphthalmia, Astigmatism, Axenfeld anomaly, Posterior embryotoxon, Hypoplasia of the fovea	OMIM:609218
Mucopolysaccharidosis, Type Iiib	Hearing impairment, Hirsutism, Coarse hair, Synophrys	OMIM:252920
Lichen Planopilaris	Pterygium, Hyperkeratosis, Onycholysis, Abnormal fingernail morphology, Alopecia	ORPHA:525
Sjögren-Larsson Syndrome	Hyperkeratosis, Ichthyosis, Corneal erosion	ORPHA:816
Epidermolysis Bullosa, Junctional 5A, Intermediate	Alopecia of scalp, Nail dystrophy, Absent pubic hair, Onycholysis of distal fingernails, Absent a...	OMIM:619816
Corneal Dystrophy And Perceptive Deafness	Opacification of the corneal stroma, Corneal dystrophy	OMIM:217400
Microphthalmia/Coloboma 10	Anophthalmia, Microphthalmia, Microcoria, Iris coloboma	OMIM:616428
Peeling Skin Syndrome 5	Hyperkeratosis	OMIM:617115
Hurler-Scheie Syndrome	Hepatomegaly, Abnormality of the tonsils, Corneal opacity, Rhinitis, Generalized hirsutism, Splen...	ORPHA:93476
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Parakeratosis, Nail dystrophy, Leukonychia, Ichthyosis, Hyperkeratosis, Woolly hair, Fragile nail...	OMIM:615821
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia, Low-set ears, Cutaneous photosensitivity	OMIM:616570
Sézary Syndrome	Nail dystrophy, Dry skin, Erythroderma, Pruritus, Alopecia	ORPHA:3162
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Cataract, Macrotia, Posteriorly rotated ears	OMIM:618392
Multiple Sulfatase Deficiency	Sensorineural hearing impairment, Corneal opacity, Thick eyebrow, Cataract, Coarse hair	ORPHA:585
Weaver Syndrome	Low-set, posteriorly rotated ears, Thin nail, Redundant skin, Deep-set nails, Macrotia, Abnormal ...	ORPHA:3447
Pityriasis Rubra Pilaris	Parakeratosis, Subungual hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis, Orthokeratosis	OMIM:173200
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
Mucopolysaccharidosis, Type Iiia	Hearing impairment, Hirsutism, Coarse hair, Synophrys	OMIM:252900
Keratolytic Winter Erythema	Pustule, Erythema	ORPHA:50943
Mucopolysaccharidosis, Type Iiic	Hirsutism, Synophrys, Hearing impairment, Hypertrichosis, Coarse hair	OMIM:252930
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Abnormal sweat gland morphology, Abnormality of the nail, Absent eyelashes, Sparse scalp hair, Ab...	OMIM:607823
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia, Sensorineural hearing impairment, Corneal opacity, Posterior embryotoxon, Catarac...	ORPHA:1473
Congenital Disorder Of Glycosylation, Type Iip	Decreased liver function, Elevated circulating alkaline phosphatase concentration, Elevated circu...	OMIM:616829
Hypotrichosis 13	Sparse eyelashes, Sparse hair, Woolly hair, Abnormal sweat gland morphology	OMIM:615896
Cutis Laxa, Autosomal Dominant 3	Premature skin wrinkling, Corneal opacity, Low-set ears, Cutis laxa, Developmental cataract, Prot...	OMIM:616603
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia, Astigmatism, Sparse lateral eyebrow, Macrotia, Cataract	OMIM:619694
Riddle Syndrome	Dry skin	OMIM:611943
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Periorbital wrinkles, Absent eyelashes, Hypoplastic nipples, Sparse scalp hair, Absent nipple, Ab...	OMIM:614941
Ataxia-Photosensitivity-Short Stature Syndrome	Dry skin	ORPHA:1184
Familial Melanoma	Dry skin, Abnormal hair morphology	ORPHA:618
X-Linked Intellectual Disability, Porteous Type	Macrotia, Frontal balding, Cupped ear	ORPHA:93945
Immunodeficiency 104	Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Chronic mucocutaneous candidiasis, T lymph...	OMIM:608971
Corneal Dystrophy, Reis-Bucklers Type	Opacification of the corneal stroma, Corneal dystrophy, Corneal opacity, Corneal erosion	OMIM:608470
Congenital Ichthyosiform Erythroderma	Abnormality of the nail, Keratitis, Erythroderma, Pruritus, Alopecia	ORPHA:79394
Dermatofibrosarcoma Protuberans	Skin ulcer, Erythema	ORPHA:31112
Erythrokeratodermia Variabilis Et Progressiva 1	Patchy palmoplantar hyperkeratosis, Hypergranulosis, Generalized hyperkeratosis	OMIM:133200
Hypotrichosis 14	Sparse body hair, Short eyelashes, Sparse pubic hair, Sparse hair, Absent axillary hair	OMIM:618275
Adams-Oliver Syndrome 4	Microphthalmia, Cutis marmorata, Toenail dysplasia, Hypoplastic toenails	OMIM:615297
Intellectual Developmental Disorder, Autosomal Recessive 39	Macrotia, Anteverted ears, Synophrys	OMIM:615541
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia	OMIM:619523
Erythrokeratodermia Variabilis Et Progressiva 6	Parakeratosis, Abnormal hair morphology	OMIM:618531
Ectodermal Dysplasia 13, Hair/Tooth Type	Brittle hair, Ectodermal dysplasia, Sparse eyelashes, Low anterior hairline, Thin eyebrow	OMIM:617392
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Dry hair, Nail dystrophy, High anterior hairline, Woolly scalp hair, Corneal opacity, Sparse scal...	OMIM:620519
Palmoplantar Keratoderma, Epidermolytic, 1	Palmar hyperkeratosis, Localized epidermolytic hyperkeratosis, Plantar hyperkeratosis, Palmoplant...	OMIM:144200
Abruzzo-Erickson Syndrome	Hearing impairment, Macrotia, Protruding ear	OMIM:302905
Transaldolase Deficiency	Cirrhosis, Anemia, Premature skin wrinkling, Thrombocytopenia, Hepatosplenomegaly, Telangiectasia	ORPHA:101028
Papa Syndrome	Skin ulcer, Myositis, Arthritis, Crohn's disease, Pustule, Acne, Increased inflammatory response	ORPHA:69126
Hereditary Bullous Dystrophy, Macular Type	Nail dystrophy, Corneal opacity, Atrichia, Congenital abnormal hair pattern, Acrocyanosis, Catara...	ORPHA:1867
Nicolaides-Baraitser Syndrome	Excessive wrinkled skin, Curly eyelashes, Highly arched eyebrow, Abnormal testis morphology, Long...	ORPHA:3051
Palmoplantar Keratoderma, Punctate Type Ia	Punctate palmoplantar hyperkeratosis, Hypergranulosis, Orthokeratosis	OMIM:148600
Intermediate Generalized Junctional Epidermolysis Bullosa	Nail dystrophy, Scarring alopecia of scalp, Sparse body hair, Anonychia, Palmoplantar keratoderma	ORPHA:79402
Microphthalmia/Coloboma 9	Ocular anterior segment dysgenesis, Microphthalmia, Microcornea, Low-set ears, Macrotia, Scleroco...	OMIM:615145
Lower Limb Malformation-Hypospadias Syndrome	Macrotia, Low-set, posteriorly rotated ears	ORPHA:2487
Congenital Heart Defects And Ectodermal Dysplasia	High anterior hairline, Medial flaring of the eyebrow, Dry skin, Sparse scalp hair, Fragile nails	OMIM:617364
Bone Marrow Failure Syndrome 4	Dry skin, Eczematoid dermatitis	OMIM:618116
Spinocerebellar Ataxia-Dysmorphism Syndrome	Low-set, posteriorly rotated ears, Coarse hair	ORPHA:1185
Porphyria Cutanea Tarda, Type I	Fragile skin, Hepatic fibrosis, Hypertrichosis, Eczematoid dermatitis	OMIM:176090
Cortisone Reductase Deficiency 1	Hirsutism, Alopecia	OMIM:604931
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Thick eyebrow, Sparse hair, Widow's peak	OMIM:606242
Fryns Microphthalmia Syndrome	Macrotia, Microphthalmia, Anophthalmia	OMIM:600776
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis	OMIM:136630
Ichthyosis Hystrix, Curth-Macklin Type	Palmoplantar keratoderma, Hyperkeratotic papule	OMIM:146590
Intellectual Disability, Wolff Type	Abnormality of the nail, Macrotia, Hypoplastic superior helix, Low posterior hairline	ORPHA:3080
Ifap Syndrome 2	Nail dystrophy, Perioral erythema, Atrichia, Keratitis, Sparse hair, Cataract, Keratoconjunctivit...	OMIM:619016
Acrodermatitis Enteropathica	Cheilitis, Skin ulcer, Ridged nail, Abnormality of the nail, Dry skin, Blepharitis, Abnormal eyeb...	ORPHA:37
6-Phosphogluconolactonase Deficiency	Hemolytic anemia	OMIM:172150
Microphthalmia, Syndromic 13	Microcornea, Microphthalmia, Anteverted ears, Iris coloboma	OMIM:300915
Bone Marrow Failure Syndrome 6	Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia	OMIM:618849
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Stickler Syndrome Type 2	Cataract, Corneal opacity	ORPHA:90654
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Nail dysplasia, Hepatomegaly, Sparse eyelashes, Erysipelas, Sparse eyebrow, Hypohidrosis, Catarac...	OMIM:615704
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia	OMIM:252270
Xeroderma Pigmentosum, Complementation Group G	Cataract, Microphthalmia, Cutaneous photosensitivity	OMIM:278780
Microcephalic Primordial Dwarfism, Montreal Type	Premature graying of hair, Alopecia of scalp, Abnormal hair quantity, Dry skin, Low posterior hai...	ORPHA:2617
Anterior Segment Dysgenesis 5	Microphthalmia, Microcornea, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel...	OMIM:604229
Bullous Impetigo	Septic arthritis, Pustule, Recurrent bacterial skin infections, Erythema	ORPHA:36237
Hall-Riggs Syndrome	Slow-growing hair, Thick hair, Coarse hair	ORPHA:2107
Congenital Factor Xii Deficiency	Penetrating foot ulcers	ORPHA:330
Hyperkeratosis Lenticularis Perstans	Skin ulcer, Pruritus	ORPHA:409
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Harlequin Ichthyosis	Cataract, Congenital ichthyosiform erythroderma, Hyperkeratosis, Ichthyosis	ORPHA:457
Alopecia Totalis	Alopecia of scalp, Onycholysis, Fragile nails, Trachyonychia, Nail pits, Alopecia totalis	ORPHA:700
Palmoplantar Carcinoma, Multiple Self-Healing	Parakeratosis, Corneal neovascularization, Nail dystrophy, Limbal stem cell deficiency, Palmoplan...	OMIM:615225
Centrifugal Lipodystrophy	Scaling skin, Lack of facial subcutaneous fat, Reduced subcutaneous adipose tissue, Erythema, Alo...	ORPHA:90156
Microcephaly 17, Primary, Autosomal Recessive	Macrotia, Low anterior hairline	OMIM:617090
Diamond-Blackfan Anemia 12	Reticulocytopenia, Elevated red cell adenosine deaminase activity, Normochromic anemia, Macrocyti...	OMIM:615550
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Absent hair, Brittle hair, Dry skin, Absent nipple, Sparse hair	OMIM:614940
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Nail dysplasia, Sensorineural hearing impairment, Low-set ears, Cataract, Bruising susceptibility...	OMIM:612394
Myoclonic-Astatic Epilepsy	Microphthalmia, Frontal balding, Premature skin wrinkling	ORPHA:1942
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Intellectual Developmental Disorder, X-Linked 9	Macrotia	OMIM:309549
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome	Cataract, Macrotia, Low-set ears	ORPHA:3433
Pressure-Induced Localized Lipoatrophy	Inflammatory abnormality of the skin, Erythema	ORPHA:90160
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia, Cutaneous photosensitivity, Hearing impairment, Developmental cataract, Sparse ha...	OMIM:610756
Dystrophic Epidermolysis Bullosa Pruriginosa	Hyperkeratosis, Nail dystrophy, Abnormal toenail morphology	ORPHA:89843
Short Syndrome	Abnormal anterior chamber morphology, Excessive wrinkled skin, Sensorineural hearing impairment, ...	ORPHA:3163
Omenn Syndrome	Thyroiditis, Erythroderma, Dry skin, Aplasia/Hypoplasia of the eyebrow, Pneumonia, Pruritus, Alop...	ORPHA:39041
Chondrodysplasia Punctata, Autosomal Dominant	Cataract, Coarse hair, Sparse hair	OMIM:118650
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Large fleshy ears, Alopecia	OMIM:203550
Microphthalmia/Coloboma 7	Microphthalmia, Iris coloboma	OMIM:614497
Gombo Syndrome	Microphthalmia	OMIM:233270
Distal Duplication 6P	Aplasia/Hypoplasia of the earlobes, Abnormal hair quantity, Abnormal eyelash morphology, Low-set ...	ORPHA:1745
Adiposis Dolorosa	Arthritis, Dry skin, Sparse pubic hair, Sparse axillary hair, Recurrent skin infections	ORPHA:36397
Forsythe-Wakeling Syndrome	Macrotia, Low-set ears	OMIM:613606
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Hearing impairment, Microphthalmia, Cataract, Iris coloboma	OMIM:120433
Autosomal Dominant Keratitis	Corneal neovascularization, Bilateral microphthalmos, Aniridia, Limbal stem cell deficiency, Micr...	ORPHA:2334
Mal De Meleda	Superficial dermal perivascular inflammatory infiltrate, Nonepidermolytic palmoplantar hyperkerat...	ORPHA:87503
Bazex Syndrome	Parakeratosis, Nail dystrophy, Yellow nails, Acanthosis nigricans, Hyperkeratosis, Palmoplantar k...	ORPHA:166113
Short Syndrome	Astigmatism, Premature skin wrinkling, Sensorineural hearing impairment, Low-set ears, Megalocorn...	OMIM:269880
Asplenia, Isolated Congenital	Howell-Jolly bodies, Thrombocytosis, Asplenia	OMIM:271400
Alopecia-Intellectual Disability Syndrome 4	Erythroderma, Alopecia	OMIM:618840
Macrocephaly/Autism Syndrome	Cutis laxa, Recurrent otitis media, Coarse hair	OMIM:605309
Anterior Segment Dysgenesis 2	Microphthalmia, Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of e...	OMIM:610256
Hypodontia-Dysplasia Of Nails Syndrome	Hypoplastic fingernail, Abnormality of the nail, Abnormal fingernail morphology, Thin toenail, Fr...	ORPHA:2228
Diamond-Blackfan Anemia 21	Low-set ears, Synophrys, Horizontal eyebrow, Cutis marmorata, Protruding ear, Coarse hair, Widow'...	OMIM:620072
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Thin skin, Abnormal fingernail morphology, Sparse body hair, Sparse hair	ORPHA:1810
Netherton Syndrome	Brittle hair, Sparse scalp hair, Chronic rhinitis, Eczematoid dermatitis, Brittle scalp hair, Spa...	OMIM:256500
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Fine hair, Sparse hair	ORPHA:1174
Microphthalmia, Syndromic 16	Microphthalmia, Sclerocornea, Anophthalmia	OMIM:611038
Naxos Disease	Vertigo, Abnormality of hair texture, Sparse scalp hair, Woolly hair, Curly hair	ORPHA:34217
Chops Syndrome	Thick hair, Synophrys, Hearing impairment, Long eyelashes, Curly hair, Thick eyebrow, Cataract, T...	OMIM:616368
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami...	OMIM:300946
Congenital Disorder Of Glycosylation, Type Iq	Ichthyosis, Hyperkeratosis, Coloboma, Cataract, Hypertrichosis	OMIM:612379
Focal Facial Dermal Dysplasia Type Iii	Highly arched eyebrow, Prematurely aged appearance, Redundant skin, Distichiasis, Sparse lateral ...	ORPHA:1807
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Scaling skin, Alopecia of scalp, Nail dystrophy, Dry skin, Alopecia	OMIM:618373
Hydroa Vacciniforme	Malar rash, Superficial dermal perivascular inflammatory infiltrate, Eczematoid dermatitis, Papul...	ORPHA:330058
Microphthalmia/Coloboma 5	Bilateral microphthalmos, Microphthalmia, Anophthalmia, Iris coloboma	OMIM:611638
Rhizomelic Chondrodysplasia Punctata	Sparse body hair, Dry skin, Alopecia	ORPHA:177
Proteus Syndrome	Limbal dermoid, Hyperkeratosis	OMIM:176920
Lichen Planus Pemphigoides	Hyperkeratosis, Conjunctivitis	ORPHA:254478
Cleft Palate-Large Ears-Small Head Syndrome	Protruding ear, Macrotia, Hypoplastic toenails	ORPHA:2013
Superficial Epidermolytic Ichthyosis	Palmoplantar keratoderma, Acantholysis, Ichthyosis	ORPHA:455
Trichothiodystrophy 9, Nonphotosensitive	Nail dystrophy, Sparse eyebrow, Tiger tail banding, Sparse hair	OMIM:619692
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Trichorrhexis nodosa, Nail dystrophy, Scarring alopecia of scalp, Sparse lateral eyebrow, Hypohid...	OMIM:617337
Ichthyosis Prematurity Syndrome	Erythroderma, Alopecia of scalp, Pruritus, Allergic rhinitis	OMIM:608649
Odontoonychodermal Dysplasia	Dry hair, Nail dysplasia, Dystrophic fingernails, Thin nail, Ridged nail, Dystrophic toenail, Spa...	OMIM:257980
Ichthyosis, Congenital, Autosomal Recessive 6	Erythroderma, Dry skin, Scaling skin	OMIM:612281
Ichthyosis, Congenital, Autosomal Recessive 3	Ichthyosis, Hyperkeratosis, Anhidrosis, Hypohidrosis, Congenital nonbullous ichthyosiform erythro...	OMIM:606545
Indolent Systemic Mastocytosis	Generalized abnormality of skin, Hepatomegaly, Lymphadenopathy, Increased proportion of CD25+ mas...	ORPHA:98848
Pruritic Urticarial Papules And Plaques Of Pregnancy	Facial erythema, Palmar pruritus, Pruritus on foot, Eczematoid dermatitis, Palmoplantar erythema,...	ORPHA:64745
Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy	Elevated circulating alkaline phosphatase concentration	OMIM:616917
Amelo-Onycho-Hypohidrotic Syndrome	Hyperkeratosis, Hypohidrosis, Onycholysis, Abnormal fingernail morphology, Hypoplastic toenails, ...	ORPHA:1028
Keratoendotheliitis Fugax Hereditaria	Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis	OMIM:148200
Pachyonychia Congenita 1	Nail dystrophy, Onychogryposis, Follicular hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:167200
Ichthyosis, Annular Epidermolytic, 2	Palmoplantar keratoderma, Ichthyosis, Orthokeratosis, Palmoplantar hyperkeratosis	OMIM:620148
Lelis Syndrome	Nail dystrophy, Yellow nails, Acanthosis nigricans, Sparse lateral eyebrow, Hypohidrosis, Abnorma...	ORPHA:140936
Adult Syndrome	Breast hypoplasia, Skin ulcer, Toenail dysplasia, Abnormality of the nail, Hypoplastic nipples, S...	ORPHA:978
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Absent eyelashes, Sparse scalp hair, Absent eyebrow, Sparse body hair, Cutis marmorata, Plantar t...	ORPHA:69735
Hypohidrotic Ectodermal Dysplasia	Trichorrhexis nodosa, Breast aplasia, Abnormality of the nail, Abnormal hair quantity, Slow-growi...	ORPHA:238468
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Aplasia/Hypoplasia of the eyebrow, Low-set, posteriorly rotated ears, Sparse scalp hair, Low post...	ORPHA:2701
Microcephalic Primordial Dwarfism, Montreal Type	Premature graying of hair, Alopecia of scalp, Excessive wrinkling of palmar skin, Abnormally larg...	OMIM:210700
Copper Deficiency, Familial Benign	Seborrheic dermatitis, Early balding, Curly hair	OMIM:121270
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Ocular anterior segment dysgenesis, Microphthalmia, Hearing impairment, Peters anomaly, Iris colo...	OMIM:610023
Prolidase Deficiency	Skin ulcer, Erythema, Hirsutism, Dry skin, White forelock, Abnormal fingernail morphology, Low an...	ORPHA:742
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation	Alopecia	OMIM:242510
Trisomy 20P	Low-set, posteriorly rotated ears, Thick hair, Highly arched eyebrow, Abnormal antihelix morpholo...	ORPHA:261318
Congenital Hereditary Endothelial Dystrophy Type Ii	Corneal stromal edema, Corneal opacity, Abnormal Descemet membrane morphology, Increased corneal ...	ORPHA:293603
Osteosclerotic Metaphyseal Dysplasia	Elevated circulating alkaline phosphatase concentration	OMIM:615198
Xeroderma Pigmentosum Variant	Keratitis, Dry skin	ORPHA:90342
Neuropathy, Hereditary Sensory, Type If	Hyperkeratosis	OMIM:615632
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	High anterior hairline, Highly arched eyebrow, Slow-growing hair, Optic nerve hypoplasia, Low-set...	OMIM:617506
Cutis Laxa, Autosomal Recessive, Type Iiib	Developmental glaucoma, Excessive wrinkled skin, Prominent ear helix, Cutis laxa, Posteriorly rot...	OMIM:614438
Intellectual Developmental Disorder, X-Linked 101	Macrotia	OMIM:300928
Sulfite Oxidase Deficiency, Isolated	Macrotia, Fine hair, Ectopia lentis	OMIM:272300
Bullous Diffuse Cutaneous Mastocytosis	Erythroderma, Pruritus	ORPHA:280785
Chromosome 3Q29 Deletion Syndrome	Low-set ears, Macrotia, Posteriorly rotated ears	OMIM:609425
Trichothiodystrophy 6, Nonphotosensitive	Brittle hair, Slow-growing hair, Cutaneous photosensitivity, Microcornea, Bilateral sensorineural...	OMIM:616943
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Hyperkeratosis, Parakeratosis	OMIM:618339
Pachyonychia Congenita	Nail dystrophy, Palmoplantar keratoderma, Onychogryposis of toenails, Alopecia, Linear arrays of ...	ORPHA:2309
Cerebrofaciothoracic Dysplasia	Low-set, posteriorly rotated ears, Low posterior hairline, Synophrys, Thick eyebrow, Abnormal hai...	ORPHA:1394
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Arthritis, Sterile arthritis, Cystic acne, Acne, Pyoderma gangrenosum, Colitis	OMIM:604416
Frontonasal Dysplasia 3	Microphthalmia, Low-set ears, Absent eyebrow, Sparse eyelashes, Posteriorly rotated ears	OMIM:613456
Acrokeratoelastoidosis Of Costa	Palmar hyperhidrosis, Hyperkeratotic papule, Palmoplantar hyperkeratosis, Hypergranulosis, Orthok...	ORPHA:38
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Dystrophic fingernails, Hyperconvex fingernails, Dystrophic toenail, Sparse eyelashes, Conductive...	ORPHA:1071
Cataract-Intellectual Disability-Hypogonadism Syndrome	Low-set, posteriorly rotated ears, Abnormal antihelix morphology, Prematurely aged appearance, Lo...	ORPHA:1387
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Bilateral microphthalmos, Abnormal eyelash morphology, Low-set ears, Corneal opac...	ORPHA:2399
Eec Syndrome	Nail dystrophy, Corneal erosion, Abnormality of the inner ear, Slow-growing hair, Sensorineural h...	ORPHA:1896
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Elevated circulating alkaline phosphatase concentration, Elevated circulating alanine a...	OMIM:619658
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Scaling skin, Leukonychia, Cheilitis, Dry skin, Angular cheilitis, Onycholysis, Pruritus	OMIM:616295
Atelis Syndrome 1	Bronchiectasis, Eczematoid dermatitis, Dry skin, Glue ear	OMIM:620184
Cutaneous Collagenous Vasculopathy	Diffuse telangiectasia, Vascular skin abnormality, Petechiae, Skin rash, Prominent superficial bl...	ORPHA:280779
Bartsocas-Papas Syndrome 2	Popliteal pterygium, Axillary pterygium, Microphthalmia, Low-set ears, Corneal opacity, Antecubit...	OMIM:619339
Renpenning Syndrome	Iris coloboma, Sensorineural hearing impairment, Round ear, Macrotia, Thin eyebrow, Cataract, Abn...	ORPHA:3242
Ichthyosis, Congenital, Autosomal Recessive 9	Hyperkeratosis, Hypohidrosis, Congenital nonbullous ichthyosiform erythroderma, Hypergranulosis, ...	OMIM:615023
Microcephaly-Microcornea Syndrome, Seemanova Type	Cataract, Microcornea, Microphthalmia	ORPHA:2528
Corneal Dystrophy, Posterior Polymorphous, 1	Abnormal corneal endothelium morphology, Band keratopathy, Iris atrophy, Corneal opacity, Abnorma...	OMIM:122000
Immunodeficiency 53	Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Re...	OMIM:617585
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Scaling skin, Absent hair, Nail dystrophy, Trichorrhexis nodosa, Facial erythema, Ridged nail, Ab...	ORPHA:1010
Focal Facial Dermal Dysplasia Type I	Absent eyelashes, Distichiasis, Sparse lateral eyebrow, Low anterior hairline, Sparse hair	ORPHA:79133
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Nail dystrophy, Yellow nails, Ridged nail, Livedo, Sparse lateral eyebrow, Onycholysis, Facial te...	OMIM:614564
Alopecia Universalis	Abnormality of the nail, Absent eyelashes, Patchy alopecia, Absent eyebrow, Alopecia universalis,...	ORPHA:701
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Decreased response to growth hormone stimulation test, Long eyelashes, Sparse hair, Cryptorchidis...	ORPHA:3363
Rafiq Syndrome	Broad eyebrow, Highly arched eyebrow, Long eyebrows, Low-set ears, Sparse lateral eyebrow, Macrot...	OMIM:614202
Pierpont Syndrome	High anterior hairline, Microphthalmia, Microcornea, Hearing impairment, Posteriorly rotated ears...	OMIM:602342
Atrophoderma Vermiculata	Hyperkeratotic papule, Follicular hyperkeratosis	ORPHA:79100
Erythroderma, Lethal Congenital	Congenital exfoliative erythroderma	OMIM:227090
Cerebrooculonasal Syndrome	Abnormal tragus morphology, Low-set, posteriorly rotated ears, Anophthalmia, Sparse eyelashes, Ma...	ORPHA:66625
Trichothiodystrophy 5, Nonphotosensitive	Brittle hair, Slow-growing hair, Cutaneous photosensitivity, Optic nerve hypoplasia, Tiger tail b...	OMIM:300953
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Microphthalmia, Isolated 6	Microcornea, Microphthalmia	OMIM:613517
Lymphatic Malformation 4	Hyperkeratosis, Toenail dysplasia	OMIM:615907
Tylosis With Esophageal Cancer	Parakeratosis, Follicular hyperkeratosis, Diffuse palmoplantar hyperkeratosis	OMIM:148500
Amyotrophic Lateral Sclerosis 20	Elevated circulating alkaline phosphatase concentration	OMIM:615426
Corneal Dystrophy, Meesmann, 1	Punctate opacification of the cornea, Corneal dystrophy	OMIM:122100
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Hyperkeratosis, Thickened skin, Iris hypopigmentation, Albinism, Ocular...	ORPHA:79431
Combined Immunodeficiency Due To Dock8 Deficiency	Chronic otitis media, Skin ulcer, Recurrent bacterial skin infections, Atopic dermatitis, Recurre...	ORPHA:217390
Spinocerebellar Ataxia Type 34	Dry skin	ORPHA:1955
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Anisocytosis, Hypochromic microcytic anemia	OMIM:206200
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Lymphadenopathy, Hyperhidrosis, Splenomegaly, Pruritus	ORPHA:86893
Atopic Keratoconjunctivitis	Corneal neovascularization, Loss of eyelashes, Corneal opacity, Corneal scarring, Dry skin, Chemo...	ORPHA:163934
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Broad eyebrow, Hyperkeratosis, Corneal scarring, Hypohidrosis, Frontal upsweep of hair	OMIM:301220
Diamond-Blackfan Anemia 4	Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia, Neutropenia	OMIM:612527
Acrofacial Dysostosis, Catania Type	Abnormal hair pattern, Low-set, posteriorly rotated ears, Coarse hair	ORPHA:1786
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Nail dystrophy, Woolly hair, Sparse eyelashes, Sparse eyebrow, Palmoplantar hyperkeratosis, Palmo...	OMIM:605676
Mcdonough Syndrome	Protruding ear, Macrotia, Low-set, posteriorly rotated ears, Synophrys	ORPHA:2471
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Corneal opacity	ORPHA:2370
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Anemia, Reticulocytosis, Hepatosplenomegaly, Splenomegaly,...	ORPHA:846
Epidermolysis Bullosa, Lethal Acantholytic	Absent fingernail, Anonychia, Alopecia totalis, Alopecia universalis, Acantholysis	OMIM:609638
Ichthyosis, Congenital, Autosomal Recessive 5	Erythroderma, White scaling skin	OMIM:604777
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome	Palmoplantar keratoderma, Hyperkeratotic papule, Leukonychia, Palmoplantar hyperkeratosis	ORPHA:2698
Cardiofaciocutaneous Syndrome 4	Alopecia of scalp, Curly hair, Sparse eyelashes, Absent eyebrow, Hyperhidrosis, Sparse hair, Palm...	OMIM:615280
Monosomy 18P	Microphthalmia, Abnormal antihelix morphology, Low posterior hairline, Macrotia, Protruding ear, ...	ORPHA:1598
Acquired Partial Lipodystrophy	Hearing impairment, Generalized hirsutism, Progeroid facial appearance	ORPHA:79087
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Hb Bart'S Hydrops Fetalis	Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Corneal neovascularization, Cornea verticillata, Corneal...	ORPHA:171673
Adult Syndrome	Breast hypoplasia, Alopecia of scalp, Hypoplastic nipples, Sparse scalp hair, Absent nipple, Ecze...	OMIM:103285
Martsolf Syndrome 2	Cataract, Macrotia, Developmental cataract	OMIM:619420
Hypotrichosis-Intellectual Disability, Lopes Type	Sparse hair	ORPHA:2266
Familial Benign Chronic Pemphigus	Hyperkeratosis, Acantholysis	ORPHA:2841
Cardiofaciocutaneous Syndrome 3	Hyperkeratosis, Hyperhidrosis, Curly hair	OMIM:615279
Thrombocytopenia 4	Thrombocytopenia, Abnormal platelet volume	OMIM:612004
Barber-Say Syndrome	Premature skin wrinkling, Stenosis of the external auditory canal, Redundant skin, Hypoplastic ni...	OMIM:209885
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome	Macrotia	ORPHA:397933
Granular Corneal Dystrophy Type Ii	Recurrent corneal erosions, Granular corneal dystrophy, Central opacification of the cornea, Sube...	ORPHA:98963
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities	Nail dystrophy, Dry skin	OMIM:620502
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Ichthyosis, Keratoconus, Fragile nails, Sparse hair, Conjunctivitis, Palmoplantar keratoderma, Al...	OMIM:242150
Mednik Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:171851
Charlie M Syndrome	Macrotia, Abnormal fingernail morphology, Abnormal toenail morphology	ORPHA:1406
Psoriasis 2	Hyperkeratosis, Parakeratosis	OMIM:602723
Hatipoglu Immunodeficiency Syndrome	Premature graying of hair, Recurrent otitis media, Petechiae, Dry skin, Atopic dermatitis, Eczema...	OMIM:620331
Tricho-Retino-Dento-Digital Syndrome	Juvenile cataract, Uncombable hair, Sparse hair	ORPHA:1264
Zinc Deficiency, Transient Neonatal	Alopecia	OMIM:608118
White Sponge Nevus 2	Hyperparakeratosis	OMIM:615785
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Recurrent otitis media, Microtia, Corneal opacity, Synophrys, Thick eyebrow, Posteriorly rotated ...	OMIM:602562
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Nail dystrophy, Hirsutism, Dry skin, Low posterior hairline, Synophrys, Abnormal hair whorl	OMIM:300860
Sjogren-Larsson Syndrome	Opacification of the corneal epithelium, Ichthyosis, Astigmatism, Abnormal hair morphology, Abnor...	OMIM:270200
Trichothiodystrophy 8, Nonphotosensitive	Trichorrhexis nodosa, Woolly hair, Cutis laxa, Sparse eyebrow, Sparse hair, Protruding ear	OMIM:619691
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Foot osteomyelitis, Skin ulcer, Acral ulceration	ORPHA:139578
Schimke Immunoosseous Dysplasia	Opacification of the corneal stroma, Fine hair, Astigmatism, Coarse hair	OMIM:242900
Auriculoosteodysplasia	Aplasia/Hypoplasia of the earlobes, Attached earlobe, Macrotia	ORPHA:114
Alg8-Cdg	Premature skin wrinkling, Low-set ears, Cutis laxa, Cataract, Abnormality of subcutaneous fat tissue	ORPHA:79325
Anemia, Congenital Dyserythropoietic, Type Iv	Reduced hematocrit, Anemia, Anemia of inadequate production, Persistence of hemoglobin F, Reticul...	OMIM:613673
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Erythema, Thyroiditis, Skin rash, Pustule, Infectious encephalitis, Erythroderma, In...	ORPHA:139402
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Macrotia, Frontal upsweep of hair, Astigmatism	OMIM:619797
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Macrotia, Sparse hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:261304
Spastic Paraplegia-Paget Disease Of Bone Syndrome	Elevated circulating alkaline phosphatase concentration	ORPHA:329475
Epidermolysis Bullosa, Junctional 1A, Intermediate	Nail dystrophy, Palmar hyperhidrosis, Patchy alopecia, Fragile nails	OMIM:226650
Idiopathic Localized Lipodystrophy	Scaling skin, Inflammatory abnormality of the skin, Erythema, Pruritus	ORPHA:90158
Craniofaciofrontodigital Syndrome	Premature skin wrinkling, Thick hair, Cardiomegaly, Sacral hypertrichosis, Cutis laxa, Low anteri...	ORPHA:363705
Squalene Synthase Deficiency	Cutaneous photosensitivity, Optic nerve hypoplasia, Low-set ears, Abnormality of hair pigmentatio...	OMIM:618156
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Thick hair, Sclerosing cholangitis, Dry skin, Sparse eyelashes, Sparse eyebrow, Sparse hair, Prur...	OMIM:607626
Fried Syndrome	Hearing impairment, Macrotia	ORPHA:85335
Darier Disease	Abnormal hair morphology, Abnormality of the nail, Thickened skin, Acrokeratosis, Palmoplantar ke...	ORPHA:218
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Follicular hyperkeratosis	OMIM:613736
Leopard Syndrome 2	Dry skin, Curly hair	OMIM:611554
Alpha-Mannosidosis	Chronic otitis media, Generalized abnormality of skin, Abnormal helix morphology, Corneal opacity...	ORPHA:61
Adams-Oliver Syndrome 2	Microphthalmia, Small nail, Low-set ears, Cutis marmorata, Low anterior hairline, Developmental c...	OMIM:614219
Trichohepatoneurodevelopmental Syndrome	Recurrent otitis media, Astigmatism, Thoracic hypertrichosis, Hypoplastic nipples, Low-set ears, ...	OMIM:618268
Pyoderma Gangrenosum	Skin ulcer, Myositis, Rheumatoid arthritis, Inflammation of the large intestine, Pustule, Skin ve...	ORPHA:48104
Hawkinsinuria	Fine hair, Sparse hair	ORPHA:2118
Congenital Rubella Syndrome	Jaundice, Anemia, Hepatomegaly, Skin rash, Corneal opacity, Thrombocytopenia, Splenomegaly, Catar...	ORPHA:290
Warburg Micro Syndrome 3	Microphthalmia, Microcornea, Macrotia, Shallow anterior chamber, Developmental cataract, Low ante...	OMIM:614222
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Cataract, Hyperkeratosis	OMIM:301108
Chung-Jansen Syndrome	Large earlobe, Macrotia, Thick eyebrow, Synophrys	OMIM:617991
Isolated Agammaglobulinemia	Pneumonia, Skin ulcer, Inflammatory abnormality of the eye, Arthritis, Skin rash, Sinusitis, Otit...	ORPHA:229717
Cholestasis, Progressive Familial Intrahepatic, 6	Elevated circulating alkaline phosphatase concentration, Intrahepatic cholestasis, Elevated circu...	OMIM:619484
Fuchs Endothelial Corneal Dystrophy	Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology, Reduced number of...	ORPHA:98974
Thyroid Dyshormonogenesis 1	Dry skin	OMIM:274400
Mucolipidosis Type Iv	Palmoplantar keratoderma, Corneal opacity	ORPHA:578
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Reduced erythrocyte adenosine triphosphate concentration, Reticulocytosis, Erythroid hyperplasia,...	OMIM:301083
Beta-Thalassemia	Anemia, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Microcytic anemia	ORPHA:848
Intellectual Developmental Disorder, Autosomal Recessive 48	Macrotia	OMIM:616269
Juvenile Hyaline Fibromatosis	Skin ulcer, Abnormal hair morphology	ORPHA:2028
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Nail dystrophy, Dystrophic fingernails, Highly arched eyebrow, Dystrophic toenail, Ectodermal dys...	ORPHA:3253
Immunodeficiency 58	Chronic otitis media, Scaling skin, Psoriasiform lesion, Recurrent aphthous stomatitis, Seborrhei...	OMIM:618131
Coffin-Siris Syndrome 8	Sparse scalp hair, Eczematoid dermatitis, Long eyelashes, Thick eyebrow, Cryptorchidism, Hypertri...	OMIM:618362
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	Eczematoid dermatitis, Dry skin, Elbow hypertrichosis, Long eyelashes	OMIM:620191
Spherocytosis, Type 5	Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia, Abnormal...	OMIM:612690
Ataxia-Telangiectasia	Premature graying of hair, Hypopigmentation of hair, Prematurely aged appearance, Abnormal testis...	ORPHA:100
Fucosidosis	Hyperhidrosis, Generalized hyperkeratosis, Corneal opacity, Abnormality of the nail	ORPHA:349
Geroderma Osteodysplasticum	Premature skin wrinkling, Abnormal hair morphology, Cutis laxa, Neonatal wrinkled skin of hands a...	OMIM:231070
2Q24 Microdeletion Syndrome	Abnormality iris morphology, Microphthalmia, Low-set, posteriorly rotated ears, Cataract	ORPHA:1617
Syndromic X-Linked Intellectual Disability 7	Sparse body hair	ORPHA:85274
Peters Anomaly	Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De...	ORPHA:708
Mycosis Fungoides	Psoriasiform dermatitis, Erythema, Pruritus, Eczematoid dermatitis	OMIM:254400
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Mucolipidosis Type Iii	Corneal opacity	ORPHA:577
Congenital Disorder Of Glycosylation, Type Im	Dry skin, Sparse eyelashes, Sparse eyebrow, Inflammatory abnormality of the skin, Alopecia	OMIM:610768
Cholestasis, Benign Recurrent Intrahepatic, 2	Jaundice, Intrahepatic cholestasis, Elevated circulating alkaline phosphatase concentration, Chol...	OMIM:605479
Erythrocytosis, Familial, 2	Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit	OMIM:263400
Anterior Segment Dysgenesis 6	Corneal neovascularization, Developmental glaucoma, Corneal opacity, Abnormal Descemet membrane m...	OMIM:617315
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Nail dystrophy, Pneumonia, Atopic dermatitis, T lymphocytopenia, Abnormally low T cell receptor e...	OMIM:618806
Idiopathic Trachyonychia	Nail dystrophy, Ichthyosis, Thin nail, Ridged nail, Toenail dysplasia, Abnormality of the periung...	ORPHA:79153
Localized Junctional Epidermolysis Bullosa	Dystrophic fingernails, Nail dystrophy, Scarring alopecia of scalp, Dystrophic toenail, Fragile s...	ORPHA:251393
Acral Peeling Skin Syndrome	Scaling skin, Excessive wrinkling of palmar skin, Erythema, Eczematoid dermatitis	ORPHA:263534
Cog7-Cdg	Jaundice, Hepatosplenomegaly, Excessive wrinkled skin, Hepatomegaly	ORPHA:79333
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Scaling skin, Chronic oral candidiasis, Thyroiditis, Patchy alopecia, Eczematoid dermatitis, Eryt...	OMIM:606367
Proteasome-Associated Autoinflammatory Syndrome 5	Skin rash, Hepatomegaly, Splenomegaly	OMIM:619175
Alopecia Antibody Deficiency	Abnormal eyelash morphology, Sparse body hair, Sparse hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:1006
Hypothyroidism, Congenital, Nongoitrous, 4	Dry skin	OMIM:275100
Mucopolysaccharidosis, Type Vii	Recurrent otitis media, Sensorineural hearing impairment, Hirsutism, Corneal opacity, Hearing imp...	OMIM:253220
Ichthyosis, Congenital, Autosomal Recessive 7	Erythroderma	OMIM:615022
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens, Abnormal antihelix morphology, Low-set ears, Low ...	ORPHA:85194
Mucopolysaccharidosis Type 3	Chronic otitis media, Mixed hearing impairment, Thick hair, Sensorineural hearing impairment, Hir...	ORPHA:581
Megalocornea	Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy...	OMIM:309300
Kid Syndrome	Scaling skin, Nail dystrophy, Corneal neovascularization, Corneal erosion, Limbal stem cell defic...	ORPHA:477
Trichothiodystrophy 3, Photosensitive	Trichorrhexis nodosa, Microphthalmia, Brittle hair, Cutaneous photosensitivity, Low-set ears, Tig...	OMIM:616395
Intellectual Developmental Disorder, X-Linked 93	Macrotia, Cupped ear	OMIM:300659
Ectodermal Dysplasia/Short Stature Syndrome	Palmoplantar keratoderma, Hyperkeratosis, Nail dystrophy, Anonychia	OMIM:616029
Cutis Laxa, Autosomal Recessive, Type Iiia	Corneal arcus, Prominent superficial blood vessels, Low-set ears, Cutis laxa, Macrotia, Sparse ha...	OMIM:219150
Craniolenticulosutural Dysplasia	Coarse hair, Posterior Y-sutural cataract, Sparse hair, Brittle hair	ORPHA:50814
Irida Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:209981
Naxos Disease	Nail dystrophy, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Woolly hair, Curly hair, Ony...	OMIM:601214
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Sensorineural hearing impairment, Hearing impairment, Macrotia, Sparse hair, Fine hair, Prominent...	OMIM:616817
Erythrokeratodermia Variabilis Et Progressiva 7	Dystrophic toenail, Woolly hair	OMIM:619209
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly, Alopecia	ORPHA:100025
Intellectual Developmental Disorder, Autosomal Dominant 65	Low-set ears, Low posterior hairline, Synophrys, Macrotia, Posteriorly rotated ears, Sparse hair,...	OMIM:619320
Interstitial Granulomatous Dermatitis With Arthritis	Rheumatoid arthritis, Inflammatory abnormality of the skin, Erythema, Pruritus	ORPHA:79099
Brittle Cornea Syndrome 2	Keratoglobus, Keratoconus, Decreased corneal thickness, Megalocornea, Hearing impairment, Scleroc...	OMIM:614170
15Q13.3 Microdeletion Syndrome	Protruding ear, Macrotia	ORPHA:199318
Neuropathy, Hereditary Sensory, Type Iic	Acral ulceration	OMIM:614213
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Horizontal eyebrow, Abnormal pinna morphology, Large fleshy ears, Synophrys	ORPHA:352530
Microphthalmia With Brain And Digit Anomalies	Nail dysplasia, Microphthalmia, Anophthalmia, Sensorineural hearing impairment, Microcornea, Scle...	ORPHA:139471
Immunodeficiency 112	Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell...	OMIM:620449
Glycosylphosphatidylinositol Biosynthesis Defect 17	Chronic otitis media, Dry skin, Osteomyelitis	OMIM:618010
Granular Corneal Dystrophy Type I	Recurrent corneal erosions, Abnormal corneal epithelium morphology, Central opacification of the ...	ORPHA:98962
Rapp-Hodgkin Syndrome	Nail dystrophy, Recurrent otitis media, Pili canaliculi, Decreased number of sweat glands, Small ...	OMIM:129400
Mucolipidosis Iv	Opacification of the corneal stroma, Corneal opacity	OMIM:252650
Sialidosis Type 1	Cataract, Hyperkeratosis, Corneal opacity	ORPHA:812
Warburg Micro Syndrome 2	Microphthalmia, Microcornea, Macrotia, Developmental cataract, Low anterior hairline, Cataract, A...	OMIM:614225
Lateral Meningocele Syndrome	Low-set ears, Abnormality of the middle ear ossicles, Conductive hearing impairment, Posteriorly ...	OMIM:130720
Jung Syndrome	Dry skin, Low posterior hairline	ORPHA:2321
Griscelli Syndrome Type 2	Premature graying of hair, Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Hypopigment...	ORPHA:79477
Congenital Disorder Of Glycosylation, Type If	Erythroderma, Dry skin, Scaling skin	OMIM:609180
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Alopecia of scalp, Hepatomegaly, Pneumonia, Aplasia of the thymus, B lymphocytopenia, Lymph node ...	OMIM:602450
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Polycythemia, Methemoglobinemia	OMIM:250800
Insensitivity To Pain, Congenital, With Anhidrosis	Nail dysplasia, Recurrent corneal erosions, Nail dystrophy, Acral ulceration, Corneal ulceration,...	OMIM:256800
Cog5-Cdg	Hepatomegaly, Abnormality of the frontal hairline, Premature skin wrinkling, Hepatosplenomegaly, ...	ORPHA:263487
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Ichthyosis, Hypergranulosis, Sparse hair, Palmoplantar keratoderma, Acantholysis, Orthokeratosis	OMIM:615508
Mucopolysaccharidosis-Plus Syndrome	Hirsutism, Low posterior hairline, Synophrys, Long eyelashes, Low anterior hairline, Coarse hair	OMIM:617303
Autosomal Recessive Faciodigitogenital Syndrome	Dry hair, Hypopigmentation of hair, Posteriorly rotated ears, Overfolded helix, Coarse hair, Wido...	ORPHA:1974
Van Buchem Disease	Elevated circulating alkaline phosphatase concentration	OMIM:239100
Bare Lymphocyte Syndrome, Type I	Chronic otitis media, Skin ulcer, Chronic sinusitis, Bronchiectasis	OMIM:604571
Dermotrichic Syndrome	Macrotia, Nail dystrophy, Hyperconvex toenail	ORPHA:99688
Epithelial Recurrent Erosion Dystrophy	Recurrent corneal erosions, Corneal dystrophy, Subepithelial corneal opacities, Corneal scarring,...	ORPHA:293381
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Hirsutism, Unilateral microphthalmos, Simple ear	OMIM:619318
Congenital Varicella Syndrome	Cataract, Microphthalmia	ORPHA:291
Osteopenia-Intellectual Disability-Sparse Hair Syndrome	Sparse scalp hair, Fine hair, Low-set ears, High-frequency sensorineural hearing impairment	ORPHA:2324
Nicolaides-Baraitser Syndrome	Excessive wrinkled skin, Premature skin wrinkling, Periorbital wrinkles, Sparse scalp hair, Low p...	OMIM:601358
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic dyserythropoietic anemia, Macrocytic anemia	OMIM:619789
Reticular Dysgenesis	Chronic otitis media, Skin rash, Skin ulcer	ORPHA:33355
Nanophthalmos	Microphthalmia	ORPHA:35612
Hypomelanosis Of Ito	Cataract, Iris coloboma, Alopecia	OMIM:300337
Hypothyroidism, Congenital, Nongoitrous, 6	Dry skin	OMIM:614450
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Developmental cataract, Corneal opacity	OMIM:618815
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language	Macrotia, Sparse eyebrow, Thick eyebrow	OMIM:617268
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Hypoplastic fingernail, Hypoplastic thumbnail, Abnormality of alkaline phosphatase level, Hypopla...	OMIM:619356
Mucopolysaccharidosis, Type Iiid	Recurrent otitis media, Facial hirsutism, Hirsutism, Low-set ears, Synophrys, Hearing impairment,...	OMIM:252940
Candidiasis, Familial, 8	Blepharitis, Chronic oral candidiasis, Cheilitis, Seborrheic dermatitis	OMIM:615527
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Jaundice, Scarring alopecia of scalp, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Spar...	ORPHA:59303
Uremic Pruritus	Recurrent skin infections, Inflammatory abnormality of the skin, Dry skin, Pruritus	ORPHA:94059
Goldberg-Shprintzen Megacolon Syndrome	Macrotia, Sparse eyebrow, Sparse scalp hair, Iris coloboma	ORPHA:66629
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia	Protruding ear, Macrotia	OMIM:251240
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hyperkeratosis	OMIM:145250
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Reticulocytosis, Abnormal mean corpuscular v...	ORPHA:3203
Fontaine Progeroid Syndrome	Microphthalmia, Premature skin wrinkling, Small nail, Prematurely aged appearance, Redundant skin...	OMIM:612289
Brachyolmia Type 1, Hobaek Type	Opacification of the corneal stroma, Corneal opacity	OMIM:271530
Panniculitis-Induced Localized Lipodystrophy	Inflammatory abnormality of the skin, Erythema	ORPHA:90159
Abruzzo-Erickson Syndrome	Sensorineural hearing impairment, Microcornea, Conductive hearing impairment, Macrotia, Iris colo...	ORPHA:921
Bresek Syndrome	Microphthalmia, Alopecia, Optic nerve hypoplasia, Low-set ears, Hearing impairment, Protruding ea...	ORPHA:85284
Congenital Disorder Of Glycosylation, Type Iibb	Macrotia, Low-set ears	OMIM:620546
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Folliculitis, Inflammation of the ...	OMIM:300635
Hemophagocytic Lymphohistiocytosis, Familial, 4	Jaundice, Anemia, Hemophagocytosis, Lymphadenopathy, Hepatomegaly, Skin rash, Thrombocytopenia, S...	OMIM:603552
Chand Syndrome	Nail dysplasia, Curly hair	OMIM:214350
Lessel-Kubisch Syndrome	Premature graying of hair, Sparse pubic hair	OMIM:618681
Cronkhite-Canada Syndrome	Hypoplastic toenails, Dystrophic fingernails, Dystrophic toenail, Patchy alopecia, Abnormal finge...	ORPHA:2930
Trichotillomania	Alopecia	OMIM:613229
Distal Deletion 10P	Hearing abnormality, Low-set, posteriorly rotated ears, Hearing impairment, Macrotia, Abnormal fi...	ORPHA:1580
Fish-Eye Disease	Opacification of the corneal stroma	OMIM:136120
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Ocular anterior segment dysgenesis, Bilateral microphthalmos, Low-set ears, Hearing impairment, M...	ORPHA:369891
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal degeneration, Corneal stromal edema, Corneal dystrophy, Descemet Membrane Folds, Corneal ...	OMIM:136800
Diamond-Blackfan Anemia 5	Leukopenia, Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia	OMIM:612528
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Dry skin, Sparse hair	OMIM:268020
Cofs Syndrome	Cataract, Sensorineural hearing impairment, Microphthalmia, Cutaneous photosensitivity	ORPHA:1466
Necrobiosis Lipoidica	Skin ulcer, Inflammatory abnormality of the skin, Erythema	ORPHA:542592
Seborrhea-Like Dermatitis With Psoriasiform Elements	Hyperkeratosis	OMIM:610227
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Macrotia, Recurrent otitis media, Synophrys	ORPHA:589905
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Recurren...	OMIM:615559
Posterior Polymorphous Corneal Dystrophy	Astigmatism, Corneal stromal edema, Corneal opacity, Abnormal Descemet membrane morphology, Incre...	ORPHA:98973
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Nail dystrophy, Recurrent otitis media, Absent peripheral lymph nodes in presence of infection, C...	ORPHA:98813
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28	Elevated circulating alkaline phosphatase concentration, Abnormality of alkaline phosphatase leve...	OMIM:620375
Sting-Associated Vasculopathy, Infantile-Onset	Nail dystrophy, Anemia, Malar rash, Myositis, Periungual erythema, Skin rash, Pustular rash, Pust...	OMIM:615934
Immunodeficiency 7	Autoimmune hemolytic anemia, Chronic oral candidiasis, Hepatomegaly, Recurrent otitis media, Lymp...	OMIM:615387
Braddock-Carey Syndrome 1	Macrotia, Posteriorly rotated ears, Sparse hair, Curly hair	OMIM:619980
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Anhidrosis, Thickened skin, Abnormal fingernail morphology, Sparse hair, Palmoplantar keratoderma...	ORPHA:659
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Onychauxis, Dry skin, Hypertrichosis	OMIM:262190
Mandibuloacral Dysplasia With Type A Lipodystrophy	Progeroid facial appearance, Breast aplasia, Prematurely aged appearance, Absent eyelashes, Thin ...	ORPHA:90153
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Elliptocytosis, Anemia of inadequate production, Hemolytic anemia	OMIM:166910
Man1B1-Cdg	Abnormal position of hair whorl, Low-set ears, Long eyebrows, Long eyelashes, Cutis laxa, Macroti...	ORPHA:397941
Norrie Disease	Microphthalmia, Buphthalmos, Sensorineural hearing impairment, Corneal opacity, Hypoplasia of the...	OMIM:310600
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities	Ectodermal dysplasia, Sparse hair	OMIM:273390
Histidinuria Due To A Renal Tubular Defect	Sensorineural hearing impairment, Macrotia, Hypoplastic toenails	OMIM:235830
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Elevated circulating alkaline phosphatase concentration	OMIM:174050
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Macrotia, Prominent antihelix, Long eyebrows, Acrocyanosis	OMIM:614407
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cataract, Corneal opacity, Microphthalmia, Low anterior hairline	OMIM:613153
Allan-Herndon-Dudley Syndrome	Stahl ear, Macrotia, Underfolded superior helices, Prominent antihelix	OMIM:300523
Hoyeraal-Hreidarsson Syndrome	Premature graying of hair, Nail dystrophy, Anemia, Excessive wrinkled skin, Abnormal leukocyte mo...	ORPHA:3322
X-Linked Agammaglobulinemia	Chronic otitis media, Skin ulcer, Arthritis, Skin rash, Sinusitis, Recurrent pneumonia, Conjuncti...	ORPHA:47
Macular Corneal Dystrophy	Recurrent corneal erosions, Decreased corneal thickness, Punctate opacification of the cornea, Hy...	ORPHA:98969
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Ablepharon Macrostomia Syndrome	Breast hypoplasia, Excessive wrinkled skin, Corneal erosion, Microtia, Absent eyelashes, Corneal ...	ORPHA:920
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Recurrent aphthous stomatitis, Arthritis, Skin rash, Leukocytosis, Urticaria, Sp...	OMIM:611762
Cholestasis-Lymphedema Syndrome	Elevated circulating alkaline phosphatase concentration, Jaundice, Elevated circulating hepatic t...	OMIM:214900
Oculocerebrocutaneous Syndrome	Microphthalmia, Anophthalmia, Alopecia	OMIM:164180
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia, Astigmatism, Myopic astigmatism, Microcornea, Corneal opacity, Cataract, Protrudi...	OMIM:152950
Neutrophilic Dermatosis, Acute Febrile	Pyoderma gangrenosum, Panniculitis, Cystic acne, Erythema, Acne inversa	OMIM:608068
Nanophthalmos 4	Microphthalmia	OMIM:615972
Incontinentia Pigmenti	Skin rash, Corneal opacity, Broad nail, Hyperhidrosis, Abnormal hair morphology, Abnormality of t...	ORPHA:464
Histidinuria-Renal Tubular Defect Syndrome	Sensorineural hearing impairment, Macrotia, Hypoplastic toenails	ORPHA:2158
Craniolenticulosutural Dysplasia	Brittle hair, Punctate cataract, Posterior Y-sutural cataract, Sparse hair, Coarse hair	OMIM:607812
Otofaciocervical Syndrome	Abnormal antihelix morphology, Atresia of the external auditory canal, Macrotia, Conductive heari...	ORPHA:2792
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly, Absent axillary hair	OMIM:269600
Prolidase Deficiency	Diffuse telangiectasia, Anemia, Skin ulcer, Facial hirsutism, Hepatomegaly, Petechiae, Low poster...	OMIM:170100
Darier-White Disease	Acrokeratosis, Acantholysis, Ridged nail, Subungual hyperkeratotic fragments	OMIM:124200
Bile Acid Synthesis Defect, Congenital, 2	Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Elev...	OMIM:235555
Leopard Syndrome 3	Hyperkeratosis, Epidermal hyperkeratosis, Low posterior hairline, Curly hair	OMIM:613707
Congenital Disorder Of Glycosylation, Type Iij	Elevated circulating alkaline phosphatase concentration, Elevated circulating hepatic transaminas...	OMIM:613489
Nance-Horan Syndrome	Microphthalmia, Microcornea, Macrotia, Posterior Y-sutural cataract, Developmental cataract	OMIM:302350
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Dry skin	OMIM:617066
Spherocytosis, Type 3	Spherocytosis, Hemolytic anemia	OMIM:270970
Schuurs-Hoeijmakers Syndrome	Highly arched eyebrow, Low-set ears, Long eyelashes, Synophrys, Macrotia, Low anterior hairline	OMIM:615009
Pachyonychia Congenita 3	Nail dystrophy, Palmoplantar keratoderma, Onychogryposis of toenails, Hyperhidrosis, Palmar hyper...	OMIM:615726
Congenital Sialidosis Type 2	Petechiae, Generalized hypertrichosis, Corneal opacity, Low-set ears, Hearing impairment, Develop...	ORPHA:93400
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Protruding ear, Macrotia, Cataract	OMIM:617481
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Highly arched eyebrow, Macrotia, Posteriorly rotated ears, Abnormal hair pattern, Overfolded helix	ORPHA:2083
Fibrodysplasia Ossificans Progressiva	Alopecia	ORPHA:337
Lmna-Related Cardiocutaneous Progeria Syndrome	Premature graying of hair, Premature skin wrinkling, Absent eyelashes, Absent eyebrow, Sparse hai...	ORPHA:363618
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Arthritis, Skin rash, Leukocytosis, Urticaria, Splenomegal...	ORPHA:37748
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Nail dysplasia, Dry hair, Brittle hair, Ectodermal dysplasia, Low-set ears, Progressive hypotrich...	OMIM:225060
Chromosome 19Q13.11 Deletion Syndrome, Distal	Nail dysplasia, Astigmatism, Low-set ears, Dry skin, Sparse eyelashes, Macrotia, Sparse eyebrow, ...	OMIM:613026
Noonan Syndrome 5	Small nail, Dry skin, Curly hair, Sparse eyebrow, Fine hair	OMIM:611553
Hajdu-Cheney Syndrome	Skin ulcer, Low-set ears, Dry skin, Synophrys, Hearing impairment, Abnormal fingernail morphology...	ORPHA:955
Chronic Mucocutaneous Candidiasis	Cheilitis, Skin ulcer, Erythema, Abnormality of the nail, Skin rash, Broad nail, Abnormal fingern...	ORPHA:1334
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita	Macrotia	ORPHA:319332
Thrombocytopenia 2	Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume	OMIM:188000
Tempi Syndrome	Polycythemia, Increased hematocrit	ORPHA:284227
Congenital Bile Acid Synthesis Defect Type 3	Jaundice, Elevated circulating alanine aminotransferase concentration, Bile duct proliferation, E...	ORPHA:79302
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Low-set ears, Conjunctival hyperemia, Sparse eyebrow, Cupped ear, Widow's peak	OMIM:167730
Rutherfurd Syndrome	Opacification of the corneal stroma, Corneal dystrophy	OMIM:180900
Ziegler-Huang Syndrome	Persistence of hemoglobin F, Macrocytic anemia, Neutropenia	OMIM:620501
Costello Syndrome	Acanthosis nigricans, Abnormal hair morphology, Keratoconus, Hyperkeratosis, Woolly hair, Deep-se...	ORPHA:3071
Pachyonychia Congenita 2	Nail dysplasia, Nail dystrophy, Subungual hyperkeratosis, Sparse scalp hair, Folliculitis, Angula...	OMIM:167210
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Chronic otitis media, Dystrophic fingernails, Skin ulcer, Abnormal hair morphology, Skin rash, Ec...	ORPHA:2314
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Scaling skin, Dry skin, Erythema	OMIM:614457
Paget Disease Of Bone 6	Elevated circulating alkaline phosphatase concentration	OMIM:616833
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Chronic oral candidiasis, Pneumonia, Jaundice, Hepatomegaly, Decreased proportion of CD3-positive...	ORPHA:276
Erythema Elevatum Diutinum	Skin vesicle, Skin rash	ORPHA:90000
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Brittle hair, Periorbital wrinkles, Absent eyelashes, Hypoplastic nipples, Absent nipple, Dry ski...	OMIM:305100
Osteosarcoma	Increased circulating lactate dehydrogenase concentration, Elevated circulating alkaline phosphat...	ORPHA:668
Acute Monoblastic/Monocytic Leukemia	Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia	ORPHA:514
Cednik Syndrome	Sensorineural hearing impairment, Macrotia	ORPHA:66631
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Corneal dystrophy, Low-set ears, Patchy alopecia, Hearing impairment, Posteriorly rotated ears, S...	OMIM:617763
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Ichthyosis, Hyperkeratosis, Hypohidrosis, Abnormal toenail morphology, Sparse hair, Alopecia	ORPHA:1005
Griscelli Syndrome	Premature graying of hair, Jaundice, Hepatomegaly, Lymphadenopathy, Silver-gray hair, Abnormal ey...	ORPHA:381
Pyropoikilocytosis, Hereditary	Pyropoikilocytosis, Elliptocytosis, Hemolytic anemia, Microspherocytosis	OMIM:266140
Coffin-Siris Syndrome 7	Recurrent otitis media, Hypoplastic fifth toenail, Low-set ears, Sparse scalp hair, Hearing impai...	OMIM:618027
Congenital Primary Aphakia	Microphthalmia, Developmental glaucoma, Aniridia, Aplasia/Hypoplasia affecting the anterior segme...	ORPHA:83461
Syngap1-Related Developmental And Epileptic Encephalopathy	Macrotia, Anteverted ears, Cutaneous photosensitivity	ORPHA:544254
Oculomaxillofacial Dysostosis	Sparse or absent eyelashes, Abnormal eyelash morphology, Corneal opacity, Aplasia/Hypoplasia affe...	ORPHA:1794
Tooth Agenesis, Selective, 4	Dystrophic fingernails, Dystrophic toenail, Sparse scalp hair, Dry skin, Sparse body hair, Short ...	OMIM:150400
Kbg Syndrome	Bilateral conductive hearing impairment, Synophrys, Macrotia, Abnormal hair pattern, Thick eyebrow	ORPHA:2332
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Broad eyebrow, Highly arched eyebrow, Hirsutism, Dry skin, Woolly hair, Low anterior hairline	OMIM:619244
Cockayne Syndrome	Hepatomegaly, Keratoconjunctivitis sicca, Premature skin wrinkling, Corneal ulceration, Malar ras...	ORPHA:191
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula...	ORPHA:3202
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hemophagocytosis, Pancytopenia, Lymphocytosis, Abnormal T cell count, Thrombocyt...	OMIM:308240
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Sparse facial hair, Sensorineural hearing impairment, Sparse axillary hair, Progeroid facial appe...	OMIM:608154
Arthrogryposis And Ectodermal Dysplasia	Nail dysplasia, Trichiasis, Hyperkeratosis, Absent eyebrow, Hypohidrosis, Trichodysplasia, Nuclea...	OMIM:601701
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Trichorhinophalangeal Syndrome Type 1	Leukonychia, Sparse eyelashes, Macrotia, Sparse eyebrow, Fragile nails, Sparse hair, Protruding ear	ORPHA:77258
Hydroxykynureninuria	Stomatitis, Dry skin	ORPHA:79155
Ablepharon-Macrostomia Syndrome	Hypoplastic fingernail, Premature skin wrinkling, Absent eyelashes, Microtia, third degree, Low-s...	OMIM:200110
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Sensorineural hearing impairment, Synophrys, Macrotia, Low anterior hairline, Sparse hair, Dorsoc...	ORPHA:391408
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cataract, Microcornea, Microphthalmia	OMIM:616171
Cryohydrocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185020
Lipoid Proteinosis	Thickened skin, Hyperkeratosis, Alopecia of scalp	ORPHA:530
Bleeding Disorder, Platelet-Type, 21	Psoriasiform dermatitis, Alopecia	OMIM:617443
Warty Dyskeratoma	Abnormal fingernail morphology, Acantholysis, Epidermal thickening, Acrokeratosis	ORPHA:69745
Radio-Tartaglia Syndrome	High anterior hairline, Small nail, Highly arched eyebrow, Hirsutism, Long eyebrows, Dry skin, Lo...	OMIM:619312
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Abnormal hair morphology, Aplasia/Hypoplasia of the earlobes, Abnormal antihelix morphology, Slow...	ORPHA:3082
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Dry skin	ORPHA:95715
Epidermodysplasia Verruciformis	Seborrheic dermatitis, Pustule, Recurrent skin infections	ORPHA:302
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Atresia of the external auditory canal, Conductive hearing impairment, Fine hair, Aplasia/Hypopla...	ORPHA:3236
Bachmann-Bupp Syndrome	Small nail, Dry skin, Sparse scalp hair, Absent eyebrow, Sparse eyelashes	OMIM:619075
Immunodeficiency 42	Chronic oral candidiasis, Hepatomegaly, Recurrent aphthous stomatitis, Hypoplasia of the thymus, ...	OMIM:616622
Beta-Mercaptolactate Cysteine Disulfiduria	Dry skin	ORPHA:1035
X-Linked Intellectual Disability, Najm Type	Cataract, Sensorineural hearing impairment, Optic nerve hypoplasia, Macrotia	ORPHA:163937
Fg Syndrome 3	Sensorineural hearing impairment, Fine hair, Frontal upsweep of hair, Sparse hair	OMIM:300406
Ogden Syndrome	Low-set ears, Cutis laxa, Macrotia, Aplasia/Hypoplasia of the eyebrow, Fine hair	ORPHA:276432
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Dystrophic fingernails, Recurrent loss of toenails and fingernails, Cutaneous photosensitivity, D...	ORPHA:158673
Pigmented Nodular Adrenocortical Disease, Primary, 4	Hirsutism, Fragile skin, Dorsocervical fat pad, Bruising susceptibility, Alopecia	OMIM:615830
19Q13.11 Microdeletion Syndrome	Nail dysplasia, Sparse or absent eyelashes, Dry skin, Sparse lateral eyebrow, Sparse hair, Fine h...	ORPHA:217346
Aplasia Cutis Congenita	Skin ulcer, Erythema	ORPHA:1114
Oculo-Palato-Cerebral Syndrome	Microphthalmia, Macrotia, Aplasia/Hypoplasia of the nails, Leukocoria, Cataract, Thickened helices	ORPHA:2714
Erythroderma Desquamativum	Seborrheic dermatitis	ORPHA:314
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Nail dysplasia, Nail dystrophy, Corneal scarring, Fragile skin, Conjunctivitis, Cataract, Alopecia	OMIM:226600
Chromomycosis	Hyperparakeratosis, Hyperkeratosis, Keratitis, Hyperkeratotic papule, Keratoconjunctivitis sicca	ORPHA:182
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Dry skin	ORPHA:3085
Classic Hodgkin Lymphoma	Hepatomegaly, Lymphadenopathy, Skin rash, Bone marrow hypocellularity, Hyperhidrosis, Splenomegal...	ORPHA:391
Congenital Disorder Of Glycosylation, Type Iy	Macrotia	OMIM:300934
Zimmermann-Laband Syndrome	Hypoplastic fingernail, Sensorineural hearing impairment, Generalized hypertrichosis, Absent fing...	ORPHA:3473
Heyn-Sproul-Jackson Syndrome	Sparse hair	OMIM:618724
Idiopathic Uveal Effusion Syndrome	Microphthalmia, Abnormal anterior eye segment morphology	ORPHA:209956
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Arthritis, Eczematoid dermatitis, Erythroderma, Glomerulonephritis, Hepatitis, Alopecia	OMIM:304790
Holoprosencephaly 5	Macrotia, Synophrys	OMIM:609637
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Juvenile cataract, Attached earlobe, Low-set ears, Macrotia	ORPHA:436245
Autoinflammation With Arthritis And Dyskeratosis	Corneal neovascularization, Punctate keratitis, Palmoplantar hyperkeratosis, Keratoconjunctivitis...	OMIM:617388
Autosomal Recessive Cutis Laxa Type 2A	Excessive wrinkled skin, Thick hair, Hearing impairment, Abnormal cornea morphology, Progeroid fa...	ORPHA:357058
Micro Syndrome	Microphthalmia, Low-set, posteriorly rotated ears, Microcornea, Macrotia, Generalized hirsutism, ...	ORPHA:2510
Temple-Baraitser Syndrome	High anterior hairline, Hypoplastic fingernail, Hypoplastic thumbnail, Aplastic/hypoplastic toena...	ORPHA:420561
Aplasia Cutis-Myopia Syndrome	Skin ulcer	ORPHA:1117
Flat Face-Microstomia-Ear Anomaly Syndrome	Abnormal tragus morphology, Low-set, posteriorly rotated ears, Abnormal antihelix morphology, Apl...	ORPHA:1968
Lethal Acantholytic Erosive Disorder	Absent hair, Absent eyelashes, Absent fingernail, Absent eyebrow, Absent toenail, Acantholysis, C...	ORPHA:158687
Elastosis Perforans Serpiginosa	Hyperkeratotic papule	ORPHA:79148
Lambotte Syndrome	Atresia of the external auditory canal, Macrotia, Ocular anterior segment dysgenesis	OMIM:245552
Tangier Disease	Nail dysplasia, Nail dystrophy, Dry skin	OMIM:205400
Juvenile Dermatomyositis	Skin ulcer, Erythema, Myositis, Arthritis, Skin rash, Dry skin, Pericarditis, Pruritus, Alopecia	ORPHA:93672
Linear Skin Defects With Multiple Congenital Anomalies 2	Highly arched eyebrow, Nail dystrophy, Microphthalmia, Posteriorly rotated ears	OMIM:300887
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Erythroderma, Psoriasiform lesion, Alopecia	ORPHA:169154
X-Linked Hypohidrotic Ectodermal Dysplasia	Hypohidrosis, Sparse body hair, Sparse hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:181
Familial Hemophagocytic Lymphohistiocytosis	Purpura, Maculopapular exanthema, Petechiae, Skin rash, Ecchymosis, Erythroderma, Infectious ence...	ORPHA:540
Trisomy 9P	Hypoplastic fingernail, Macrotia, Fingernail dysplasia, Hypoplastic toenails, Protruding ear, Abn...	ORPHA:236
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Erythroderma, Recurrent pneumonia, Otitis media, Pneumonia, Hepatitis	ORPHA:169160
Borjeson-Forssman-Lehmann Syndrome	Macrotia	OMIM:301900
Sandestig-Stefanova Syndrome	Microphthalmia, Highly arched eyebrow, Underdeveloped tragus, Low-set ears, Laterally extended ey...	OMIM:618804
Pemphigus Vulgaris	Acantholysis, Alopecia of scalp	ORPHA:704
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Alopecia of scalp, Perioral erythema, Dry skin, Perianal erythema, Paronychia	OMIM:201100
Hypophosphatasia, Childhood	Low alkaline phosphatase	OMIM:241510
Dermatoosteolysis, Kirghizian Type	Dystrophic fingernails, Skin ulcer, Abnormality of the nail, Dystrophic toenail, Keratitis, Osteo...	ORPHA:1657
Temtamy Syndrome	Microphthalmia, Highly arched eyebrow, Lens luxation, Low-set ears, Ectopia lentis, Lop ear, Iris...	OMIM:218340
Noonan Syndrome 13	Recurrent otitis media, Broad eyebrow, Highly arched eyebrow, Dry skin, Low posterior hairline, G...	OMIM:619087
Elliptocytosis 3	Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia, Decreased mean corpuscular volume	OMIM:617948
Sialidosis Type 2	Ascites, Hepatomegaly, Corneal opacity, Splenomegaly	ORPHA:87876
Diencephalic Syndrome	Macrotia	ORPHA:1672
Ehlers-Danlos Syndrome, Classic-Like, 2	Prematurely aged appearance, Redundant skin, Low posterior hairline, Macrotia, Thin eyebrow, Brui...	OMIM:618000
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Hepatomegaly, Cholestasis, Splenomegaly, Pruritus	OMIM:620010
Fg Syndrome Type 1	Sensorineural hearing impairment, Microtia, Stenosis of the external auditory canal, Facial wrink...	ORPHA:93932
Xq27.3Q28 Duplication Syndrome	Sparse body hair	ORPHA:261483
Flynn-Aird Syndrome	Cataract, Skin ulcer, Alopecia	ORPHA:2047
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Microphthalmia, Microcornea, Corneal opacity, Persistent pupillary membrane, Phthisis bulbi, Shal...	OMIM:221900
Noonan Syndrome	Blue irides, Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Abnormal hair q...	ORPHA:648
Anterior Segment Dysgenesis 1	Ocular anterior segment dysgenesis, Microcornea, Posterior polar cataract, Opacification of the c...	OMIM:107250
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Dry skin	ORPHA:486815
Pontocerebellar Hypoplasia, Type 3	Hearing impairment, Macrotia, Low-set ears	OMIM:608027
Ddost-Cdg	Dry skin	ORPHA:300536
Ovalocytosis, Southeast Asian	Elliptocytosis, Hemolytic anemia	OMIM:166900
Mehmo Syndrome	Macrotia	OMIM:300148
Vulvovaginal Gingival Syndrome	Parakeratosis, Ridged nail	ORPHA:83453
Familial Expansile Osteolysis	Elevated circulating alkaline phosphatase concentration	OMIM:174810
Autoimmune Polyendocrinopathy Type 1	Cataract, Opacification of the corneal stroma, Abnormal fingernail morphology, Alopecia	ORPHA:3453
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hirsutism, Reduced subcutaneous adipose tissue, Hepatosplenomegaly, Splenomegaly, H...	OMIM:612526
Bartsocas-Papas Syndrome	Hypoplastic toenails, Popliteal pterygium, Sparse or absent eyelashes, Corneal opacity, Aplasia/H...	ORPHA:1234
Craniotelencephalic Dysplasia	Microphthalmia, Low-set, posteriorly rotated ears, Septo-optic dysplasia	ORPHA:1528
Rh-Null, Amorph Type	Stomatocytosis, Anisocytosis, Hemolytic anemia, Reticulocytosis	OMIM:617970
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay	Highly arched eyebrow, Absent internal auditory canal, Corneal opacity, Profound sensorineural he...	OMIM:620469
Congenital Short Bowel Syndrome	Sparse hair	ORPHA:2301
Naegeli-Franceschetti-Jadassohn Syndrome	Nail dystrophy, Decreased number of sweat glands, Dystrophic toenail, Dry skin, Onycholysis, Frag...	ORPHA:69087
Letterer-Siwe Disease	Stomatitis, Seborrheic dermatitis, Pallor	OMIM:246400
Ophthalmomandibulomelic Dysplasia	Corneal opacity, Megalocornea	ORPHA:2741
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Recurrent otitis media, Lymphadenopathy, Splenomegaly, Lymphopenia, ...	ORPHA:444463
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Microtia, Long eyelashes, Hearing impairment, Macrotia, Synophrys, Fine hair	OMIM:620250
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type	Macrotia, Bilateral sensorineural hearing impairment	OMIM:300238
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Ocular anterior segment dysgenesis, Microphthalmia, Developmental cataract	ORPHA:324416
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	High anterior hairline, Dry skin, Horizontal eyebrow, Low anterior hairline, Thick eyebrow	OMIM:618797
Diffuse Cutaneous Mastocytosis	Erythroderma, Scaling skin, Pruritus	ORPHA:79456
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Posterior lenticonus, Microcornea, Microphthalmia, Iris coloboma	ORPHA:231736
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia, Shallow anterior chamber	OMIM:267760
Juvenile Sialidosis Type 2	Hepatomegaly, Generalized hypertrichosis, Corneal opacity, Visceromegaly, Hepatosplenomegaly, Cat...	ORPHA:93399
Intellectual Developmental Disorder, X-Linked 107	Macrotia, Abnormality of superior crus of antihelix, Prominent crus of helix	OMIM:301013
Neuropathy, Hereditary Sensory And Autonomic, Type Iib	Acral ulceration, Osteomyelitis	OMIM:613115
Cardiofaciocutaneous Syndrome	Dystrophic fingernails, Excessive wrinkled skin, Low-set, posteriorly rotated ears, Sparse or abs...	ORPHA:1340
Myasthenic Syndrome, Congenital, 1B, Fast-Channel	Macrotia	OMIM:608930
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Recurrent aphthous stomatitis, Recurrent pneumonia, Bronchiectasis, Pyo...	OMIM:150550
Wilson Disease	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Acute hepatitis, Kayser-Fleischer ring, Arthritis, Hep...	ORPHA:905
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Highly arched eyebrow, Low-set ears, Synophrys, Long eyelashes, Macrotia, Low anterior hairline, ...	ORPHA:329224
Poikiloderma With Neutropenia	Nail dystrophy, Hyperkeratosis, Low posterior hairline, Sparse lateral eyebrow, Sparse eyebrow, C...	OMIM:604173
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Periorbital wrinkles, Sparse eyelashes, Sparse eyebrow, Sparse hair, Hypohidrotic ectodermal dysp...	OMIM:224900
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Highly arched eyebrow, Abnormal pinna morphology, Low-set ears, Long eyelashes, Hearing impairmen...	OMIM:617452
Nance-Horan Syndrome	Protruding ear, Microcornea, Microphthalmia, Cataract	ORPHA:627
Amoebic Keratitis	Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,...	ORPHA:67043
Tularemia	Pneumonia, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Inflammatory abnormality of the ...	ORPHA:3392
Harel-Yoon Syndrome	Developmental cataract, Corneal opacity	OMIM:617183
Oculoauricular Syndrome	Microphakia, Ocular anterior segment dysgenesis, Microphthalmia, Iris cyst, Stenosis of the exter...	OMIM:612109
Menkes Disease	Cutis laxa, Alopecia, Sparse hair, Brittle hair	OMIM:309400
Psoriasis 14, Pustular	Parakeratosis, Nail dystrophy, Cholangitis, Leukocytosis, Pustule, Neutrophilia, Psoriasiform der...	OMIM:614204
Orofaciodigital Syndrome Type 1	Chronic otitis media, Brittle hair, Dry skin, Hearing impairment, Sparse hair, Coarse hair, Alopecia	ORPHA:2750
Cockayne Syndrome Type 2	Anophthalmia, Hearing impairment, Macrotia, Developmental cataract, Conjunctivitis, Progeroid fac...	ORPHA:90322
Cog4-Cdg	Thick hair, Elevated circulating alkaline phosphatase concentration, Elevated circulating hepatic...	ORPHA:263501
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Abnormal hair morphology, Optic nerve hypoplasia, Low-set ears, Posteri...	OMIM:607597
Immunodeficiency 55	Recurrent skin infections, Dry skin, Eczematoid dermatitis	OMIM:617827
Developmental And Epileptic Encephalopathy 64	Highly arched eyebrow, Long eyelashes, Macrotia, Sparse eyebrow, Low anterior hairline, Thick eye...	OMIM:618004
Neonatal Inflammatory Skin And Bowel Disease	Slow-growing scalp hair, Scaling skin, Erythema, Chronic monilial nail infection, Recurrent bacte...	ORPHA:294023
Christianson Syndrome	Macrotia, Thick eyebrow	ORPHA:85278
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Myeloproliferative disorder, Splenomegaly, Eosinophilia, Pruritus	OMIM:607685
Familial Peripheral Male-Limited Precocious Puberty	Acne, Macroorchidism, Abnormal hair morphology	ORPHA:3000
Baraitser-Winter Syndrome 2	Hearing impairment, Abnormal pinna morphology, Microphthalmia, Highly arched eyebrow	OMIM:614583
Peroxisome Biogenesis Disorder 14B	Dry skin	OMIM:614920
Recon Progeroid Syndrome	Scaling skin, Cutaneous photosensitivity, Hyperconvex thumb nails, Attached earlobe, Microtia, Hi...	OMIM:620370
Frontonasal Dysplasia 1	Microphthalmia, Low-set ears, Conductive hearing impairment, Cataract, Widow's peak	OMIM:136760
Intellectual Developmental Disorder, Autosomal Recessive 71	Macrotia, Abnormally large globe	OMIM:618504
Papillon-Lefèvre Syndrome	Nail dystrophy, Liver abscess, Severe periodontitis, Periodontitis, Abnormality of the nail, Recu...	ORPHA:678
Corneal Dystrophy, Thiel-Behnke Type	Juvenile epithelial corneal dystrophy, Corneal dystrophy, Corneal scarring	OMIM:602082
De Barsy Syndrome	Excessive wrinkled skin, Prominent veins on trunk, Bilateral sensorineural hearing impairment, Co...	ORPHA:2962
Stuve-Wiedemann Syndrome 1	Opacification of the corneal stroma, Hyperhidrosis, Premature skin wrinkling, Sparse hair	OMIM:601559
Craniodiaphyseal Dysplasia, Autosomal Dominant	Elevated circulating alkaline phosphatase concentration	OMIM:122860
Corneal Dystrophy, Fuchs Endothelial, 6	Corneal stromal edema, Corneal dystrophy, Corneal guttata, Abnormal Descemet membrane morphology,...	OMIM:613270
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Fine hair, Microphthalmia, Low-set ears, Alopecia	ORPHA:228390
Omenn Syndrome	Pneumonia, Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Se...	OMIM:603554
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Poikilocytosis, Elliptocytosis, Anisocytosis, Thrombocytopenia, Abnormal retic...	OMIM:300835
Elliptocytosis 2	Elliptocytosis, Hemolytic anemia, Reticulocytosis	OMIM:130600
Trichorhinophalangeal Syndrome, Type Iii	Sparse lateral eyebrow, Epidermal hyperkeratosis, Fine hair, Sparse hair	OMIM:190351
Dentici-Novelli Neurodevelopmental Syndrome	Hearing impairment, Macrotia, Cataract	OMIM:619877
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Recurrent otitis media, Frontal hirsutism, Macrotia, Protruding ear, Cyanosis	ORPHA:3304
Lissencephaly 6 With Microcephaly	Macrotia, Synophrys	OMIM:616212
Eem Syndrome	Sparse body hair, Sparse scalp hair, Absent eyebrow	ORPHA:1897
Rhizomelic Chondrodysplasia Punctata, Type 1	Developmental cataract, Alopecia	OMIM:215100
Microphthalmia/Coloboma 12	Corneal opacity, Remnants of the hyaloid vascular system, Chorioretinal coloboma, Optic disc colo...	OMIM:120200
Trichohepatoenteric Syndrome 2	Trichorrhexis nodosa, Brittle hair, Uncombable hair, Woolly hair, Sparse hair	OMIM:614602
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Hypoplastic nipples, Ectodermal dysplasia, Sparse hair, Small nail	OMIM:273400
Brachycephaly, Trichomegaly, And Developmental Delay	Brittle hair, Highly arched eyebrow, Low-set ears, Long eyelashes, Synophrys, Conductive hearing ...	OMIM:617412
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Skin vesicle, Alopecia, Hypoplastic fingernail, Hyperconvex fingernails	ORPHA:257
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Opacification of the corneal stroma, Hyperkeratosis	ORPHA:79280
Achalasia-Microcephaly Syndrome	Macrotia	ORPHA:929
Variegate Porphyria, Childhood-Onset	Epidermal hyperkeratosis	OMIM:620483
Neurooculocardiogenitourinary Syndrome	Redundant neck skin, Microphthalmia, Sensorineural hearing impairment, Low-set ears, Peters anomaly	OMIM:618652
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Hepatomegaly, Biliary tract abnormality, Splenomegaly, Neonatal cholestatic ...	ORPHA:79301
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Corneal opacity, Lymphadenopathy	ORPHA:79292
Congenital Disorder Of Glycosylation, Type Id	Nail dysplasia, Macrotia, Iris coloboma, Small nail	OMIM:601110
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Telangiectasia of extensor surfaces, Absent eyelashes, Sparse scalp hair, Absent eyebrow, Sparse ...	OMIM:137940
Inflammatory Bowel Disease 28, Autosomal Recessive	Perianal abscess, Pyoderma, Crohn's disease, Folliculitis, Enterocolitis, Colitis	OMIM:613148
Microphthalmia, Isolated 5	Cataract, Microphthalmia	OMIM:611040
Werner Syndrome	Alopecia of scalp, Prematurely aged appearance, Subcutaneous calcification, Cataract, Progeroid f...	OMIM:277700
Intellectual Disability, Buenos-Aires Type	Hyperconvex thumb nails, Macrotia, Fine hair, Abnormal fingernail morphology	ORPHA:3079
Agel Amyloidosis	Nail dystrophy, Dry skin, Cutis laxa, Pruritus, Sparse hair, Keratoconjunctivitis sicca	ORPHA:85448
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Small nail, Anemia of inadequate production, Reticulocytosis, Poi...	OMIM:615631
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Highly arched eyebrow, Macrotia, Low-set ears	OMIM:618142
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Elevated circulating alkaline phosphatase concentration, Alopecia	OMIM:600785
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Redundant neck skin, Astigmatism, Small nail, Optic nerve hypoplasia, Hirsutism, Low-set ears, Co...	OMIM:301056
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Astigmatism, Large fleshy ears	OMIM:619556
9P13 Microdeletion Syndrome	Hyperconvex nail, Recurrent otitis media, Highly arched eyebrow, Dry skin, Thick eyebrow, Hypopla...	ORPHA:324313
Gand Syndrome	Sparse hair	OMIM:615074
Sickle Cell Anemia	Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Leukocytosis...	ORPHA:232
Trichorhinophalangeal Syndrome, Type I	Leukonychia, Thin nail, Slow-growing hair, Sparse scalp hair, Sparse lateral eyebrow, Macrotia, C...	OMIM:190350
Hydrocephalus-Obesity-Hypogonadism Syndrome	Sparse facial hair, Absent facial hair, Low posterior hairline	ORPHA:2183
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Reduced subcutaneous adipose tissue, Alopecia	OMIM:612079
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Woolly hair	OMIM:611528
Immunodeficiency 69	Anemia, Hemophagocytosis, Pancytopenia, Skin rash, Leukocytosis, Hepatosplenomegaly, Splenomegaly...	OMIM:618963
Gelatinous Drop-Like Corneal Dystrophy	Conjunctival amyloidosis, Corneal neovascularization, Subepithelial corneal opacities, Central op...	ORPHA:98957
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Recurrent otitis media, B lymphocytopenia, T lymphocytopenia, Sinusitis, Recurrent pneumonia, Inf...	ORPHA:277
Neuhauser Syndrome	Corneal arcus, Iris transillumination defect, Iridodonesis, Megalocornea, Hypoplasia of the iris,...	OMIM:249310
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
Lipodystrophy-Intellectual Disability-Deafness Syndrome	Sensorineural hearing impairment, Progeroid facial appearance	ORPHA:50811
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Vascular skin abnormality, Small nail, Sensorineural hearing impairment, Absent eyelashes, Sparse...	ORPHA:544488
Buerger Disease	Skin ulcer	ORPHA:36258
Cat-Eye Syndrome	Hearing impairment, Microphthalmia, Iris coloboma	ORPHA:195
Vascular Malformation, Primary Intraosseous	Elevated circulating alkaline phosphatase concentration	OMIM:606893
Gillessen-Kaesbach-Nishimura Syndrome	Low-set ears, Frontotemporal hypertrichosis, Posteriorly rotated ears, Large fleshy ears	OMIM:263210
Acute Generalized Exanthematous Pustulosis	Scaling skin, Purpura, Cheilitis, Lymphadenopathy, Skin vesicle, Cholestasis, Leukocytosis, Predo...	ORPHA:293173
Generalized Pustular Psoriasis	Cheilitis, Abnormality of the nail, Arthritis, Palmoplantar pustulosis, Pustule, Erythroderma, Uv...	ORPHA:247353
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Macrotia, Low-set ears	OMIM:615419
Joubert Syndrome 37	Low-set ears, Microphthalmia, Posteriorly rotated ears, Sparse hair	OMIM:619185
Immunodeficiency 48	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Eczematoid dermatitis, ...	OMIM:269840
Rothmund-Thomson Syndrome, Type 2	Premature graying of hair, Nail dystrophy, Microphthalmia, Cutaneous photosensitivity, Absent eye...	OMIM:268400
Lipodystrophy, Familial Partial, Type 7	Decreased adipose tissue around neck, Sparse scalp hair, Dry skin, Lack of facial subcutaneous fa...	OMIM:606721
Mandibuloacral Dysplasia With Type B Lipodystrophy	Progeroid facial appearance, Nail dystrophy, Abnormal hair morphology, Prematurely aged appearanc...	ORPHA:90154
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macrotia	OMIM:300886
Werner Syndrome	Premature graying of hair, Aplasia/Hypoplasia of the testes, Ovarian neoplasm, Skin ulcer, Premat...	ORPHA:902
Multicentric Carpotarsal Osteolysis Syndrome	Corneal opacity	OMIM:166300
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Purpura, Skin ulcer	ORPHA:743
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Sparse scalp hair, Sparse eyelashes, Cutis laxa, Sparse eyebrow, Thin skin, Progeroid facial appe...	ORPHA:75496
Scalp-Ear-Nipple Syndrome	Nail dysplasia, Small earlobe, Microtia, Underdeveloped tragus, Sparse axillary hair, Sparse hair...	OMIM:181270
Temtamy Syndrome	Microphthalmia, Low-set ears, Iris coloboma	ORPHA:1777
Odontotrichoungual-Digital-Palmar Syndrome	Nail dysplasia, Nail dystrophy, Abnormality of hair texture	OMIM:601957
Agammaglobulinemia 9, Autosomal Recessive	Seborrheic dermatitis, Eczematoid dermatitis	OMIM:619693
Opitz-Kaveggia Syndrome	Frontal upsweep of hair, Sensorineural hearing impairment, Facial wrinkling, Microtia, first degr...	OMIM:305450
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Iris coloboma, Alopecia	ORPHA:88630
Acute Radiation Syndrome	Cataract, Hyperkeratosis	ORPHA:454831
Autosomal Dominant Hypocalcemia	Abnormality of the nail, Dry skin, Eczematoid dermatitis, Abnormal fingernail morphology, Alopecia	ORPHA:428
Brooke-Spiegler Syndrome	Skin ulcer, Cylindroma, Skin appendage neoplasm, Trichoepithelioma	ORPHA:79493
Chanarin-Dorfman Syndrome	Subcapsular cataract, Alopecia	OMIM:275630
Meige Disease	Skin ulcer, Cobblestone-like hyperkeratosis, Recurrent bacterial skin infections, Lymph node hypo...	ORPHA:90186
Hurler-Scheie Syndrome	Hirsutism, Corneal opacity, Splenomegaly, Hepatomegaly	OMIM:607015
Hypotonia-Cystinuria Syndrome	Macrotia, Posteriorly rotated ears, Long eyelashes	OMIM:606407
Craniofrontonasal Dysplasia	Sensorineural hearing impairment, Abnormality of hair texture, Woolly hair, Low posterior hairlin...	ORPHA:1520
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Hirsutism, Acne	OMIM:612847
Persistent Hyperplastic Primary Vitreous	Microphthalmia, Microcornea, Corneal opacity, Persistent pupillary membrane, Phthisis bulbi, Shal...	ORPHA:91495
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Seborrheic dermatitis, Redundant skin, Arthritis, Eczematoid dermatitis, Erythema	OMIM:259100
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia, Low-set, posteriorly rotated ears, Abnormal pinna morphology, Microcornea, Genera...	ORPHA:2505
X-Linked Intellectual Disability, Cilliers Type	Macrotia, Small nail	ORPHA:163971
Oculocerebrocutaneous Syndrome	Iris coloboma, Abnormal pinna morphology, Corneal opacity, Hearing impairment, Abnormal fingernai...	ORPHA:1647
Retinitis Pigmentosa With Or Without Skeletal Anomalies	High anterior hairline, Small nail, Low-set ears, Sparse eyelashes, Macrotia, Sparse eyebrow, Spa...	OMIM:250410
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Hirsutism, Long eyelashes, Thick eyebrow, Low anterior hairline, Sparse hair	OMIM:616819
X-Linked Intellectual Disability, Sutherland-Haan Type	Macrotia	ORPHA:93950
Even-Plus Syndrome	Highly arched eyebrow, Cataract, Sparse hair, Synophrys	OMIM:616854
Melnick-Needles Syndrome	Frontal hirsutism, Macrotia, Recurrent otitis media, Coarse hair	OMIM:309350
Xp22.3 Microdeletion Syndrome	Opacification of the corneal stroma	ORPHA:1643
Walker-Warburg Syndrome	Microphthalmia, Anophthalmia, Microcornea, Corneal opacity, Low-set ears, Cataract, Posteriorly r...	ORPHA:899
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Hirsutism, Synophrys, Macrotia, Low anterior hairline, Thick eyebrow, Frontal upsweep of hair, Ov...	OMIM:617061
Protoporphyria, Erythropoietic, 1	Erythema, Pruritus, Eczematoid dermatitis	OMIM:177000
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Hyperkeratosis, Ichthyosis, Acanthosis nigricans, Parakeratosis	OMIM:618527
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Large earlobe, Microphthalmia, Cutis marmorata	OMIM:602501
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Abnormal lymph node morphology, Anemia, Petechiae, Leukocytosis, Hepatosplenomegaly...	OMIM:612840
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Nail dystrophy, Small nail, Sclerodactyly, Orthokeratotic hyperkeratosis, Palmoplantar keratoderm...	OMIM:610644
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Generalized abnormality of skin, Nail dystrophy, Anemia, Alopecia, Corneal opacity, Fragile skin,...	ORPHA:79396
Chromosome 3Q13.31 Deletion Syndrome	Macrotia, Low-set ears	OMIM:615433
Coffin-Lowry Syndrome	Hyperconvex fingernails, Highly arched eyebrow, Sensorineural hearing impairment, Hearing impairm...	OMIM:303600
X-Linked Intellectual Disability, Golabi-Ito-Hall Type	Nail dystrophy, Brittle hair, Protruding ear, Dry hair, Cupped ear	ORPHA:93947
Mmep Syndrome	Microphthalmia	ORPHA:3434
Trisomy 13	Microphthalmia, Anophthalmia, Abnormal antihelix morphology, Sensorineural hearing impairment, Ab...	ORPHA:3378
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Low-set ears, Overfolded helix, Large fleshy ears	OMIM:619092
Noonan Syndrome 8	Hyperkeratosis, Curly hair	OMIM:615355
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome	Macrotia	ORPHA:1154
Onychotrichodysplasia And Neutropenia	Trichorrhexis nodosa, Hypoplastic fingernail, Chronic irritative conjunctivitis, Curly eyelashes,...	OMIM:258360
Immunodeficiency 85 And Autoimmunity	Erythroderma, Oligoarthritis, Eczematoid dermatitis	OMIM:619510
Intellectual Developmental Disorder, Autosomal Dominant 7	Macrotia, Abnormal pinna morphology, Thickened helices	OMIM:614104
Frontofacionasal Dysplasia	Aplasia/Hypoplasia of the eyebrow, Microphthalmia, Microcornea, Limbal dermoid, Brushfield spots,...	ORPHA:1791
Calciphylaxis	Skin ulcer, Abnormality of skin physiology	ORPHA:280062
Neonatal Lupus Erythematosus	Aplastic anemia, Parakeratosis, Hepatomegaly, Anemia, Pancytopenia, Malar rash, Cutaneous photose...	ORPHA:398124
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Portal fibrosis, Hepatomegaly, Splenomegaly, Acholic stools, Pruritus	OMIM:619868
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia, Microcornea, Low-set ears, Persistent pupillary membrane, Cataract, Sparse eyelas...	OMIM:257850
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Nail dystrophy, Splenomegaly, Psoriasiform dermatitis, Neutropenia, Thyroiditis, Urticaria, Pneum...	ORPHA:37042
Autosomal Dominant Cutis Laxa	Redundant neck skin, Premature skin wrinkling, Prematurely aged appearance, Redundant skin, Corne...	ORPHA:90348
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Hypohidrosis, Hyperkeratosis, High anterior hairline, Anisocoria	OMIM:615510
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Small nail, Absent eyelashes, Low-set ears, Absent eyebrow, Macrotia, Alopecia	ORPHA:166035
Pachydermoperiostosis	Hepatomegaly, Anemia, Abnormal hair quantity, Seborrheic dermatitis, Arthritis, Eczematoid dermat...	ORPHA:2796
Schimmelpenning-Feuerstein-Mims Syndrome	Coloboma, Ichthyosis, Corneal opacity, Alopecia	OMIM:163200
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3	Elevated circulating alkaline phosphatase concentration	OMIM:615424
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Corneal opacity	OMIM:618961
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Macrotia, Low-set ears	ORPHA:314575
Vitamin D-Dependent Rickets, Type 3	Elevated circulating alkaline phosphatase concentration	OMIM:619073
Familial Keratoacanthoma	Hyperkeratosis	ORPHA:493
Cranioectodermal Dysplasia 3	Broad nail, Dry skin, Cutis laxa, Short nail, Sparse hair, Fine hair	OMIM:614099
Oligodontia-Colorectal Cancer Syndrome	Sparse scalp hair, Absent eyebrow, Sparse body hair, Short eyelashes, Sparse axillary hair	OMIM:608615
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hyperkeratosis	ORPHA:79279
Encephalocraniocutaneous Lipomatosis	Microphthalmia, Subcutaneous lipoma, Hypoplasia of the iris, Sclerocornea, Limbal dermoid, Alopecia	OMIM:613001
Generalized Eruptive Keratoacanthoma	Abnormal cornea morphology, Keratoconjunctivitis sicca, Pruritus, Conjunctivitis	ORPHA:411777
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Aplasia/Hypoplasia of the external ear, Highly arched eyebrow, Low-set ears, Long eyelashes, Hear...	ORPHA:505237
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Splenomegaly, Acute myelomonocytic leukemia	ORPHA:86843
Complement Component 5 Deficiency	Generalized seborrheic dermatitis	OMIM:609536
Glycosylphosphatidylinositol Biosynthesis Defect 11	Elevated circulating alkaline phosphatase concentration	OMIM:616025
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Skin...	OMIM:619924
Trichothiodystrophy	Alopecia of scalp, Dystrophic fingernails, Ridged nail, Brittle hair, Sparse scalp hair, Tiger ta...	ORPHA:33364
Congenital Fibrinogen Deficiency	Microphthalmia, Cyanosis, Abnormality of the subungual region, Developmental cataract, Bruising s...	ORPHA:335
Immunodeficiency 92	Decreased proportion of class-switched memory B cells, Lymphocytosis, B lymphocytopenia, Leukocyt...	OMIM:619652
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Microphthalmia, Corneal scarring, Cataract, Buphthalmos, Iris coloboma	OMIM:212550
Immunodeficiency 114, Folate-Responsive	Skin ulcer, Atopic dermatitis	OMIM:620603
Tangier Disease	Nail dystrophy, Anemia, Corneal opacity, Chronic noninfectious lymphadenopathy, Dry skin, Orange ...	ORPHA:31150
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Fine hair, Generalized hirsutism, Hypopigmentation of hair	ORPHA:2221
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Macrotia, Synophrys	ORPHA:391307
Fragile X Syndrome	Chronic otitis media, Macrotia, Protruding ear, Otitis media	ORPHA:908
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi...	ORPHA:75564
Microscopic Polyangiitis	Skin ulcer, Pancreatitis, Arthritis, Skin rash, Episcleritis, Sinusitis, Pericarditis, Peritoniti...	ORPHA:727
Gallbladder Disease 1	Jaundice, Elevated circulating hepatic transaminase concentration, Cholelithiasis, Bile duct prol...	OMIM:600803
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Macrotia, Low anterior hairline	OMIM:218000
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia	OMIM:612561
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Leukemia, Chronic Myeloid	Reduced leukocyte alkaline phosphatase	OMIM:608232
Mixed Connective Tissue Disease	Myocarditis, Purpura, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Keratoconjuncti...	ORPHA:809
C1Q Deficiency 2	Facial erythema, Anemia, Recurrent otitis media, Malar rash, Arthritis, Discoid lupus rash, Chilb...	OMIM:620321
Majeed Syndrome	Skin rash, Anemia of inadequate production, Inflammatory abnormality of the skin, Hepatosplenomeg...	OMIM:609628
Occipital Horn Syndrome	Coarse hair, Redundant skin, Bruising susceptibility, Pili torti	OMIM:304150
Blepharocheilodontic Syndrome 1	Nail dysplasia, High anterior hairline, Small nail, Distichiasis, Sparse hair	OMIM:119580
Leprosy	Iritis, Loss of eyelashes, Corneal ulceration, Hyperkeratosis, Absent eyebrow, Hypohidrosis, Spar...	ORPHA:548
Bile Acid Synthesis Defect, Congenital, 3	Jaundice, Intrahepatic cholestasis, Elevated circulating alkaline phosphatase concentration, Elev...	OMIM:613812
Microphthalmia, Isolated, With Corectopia	Microphthalmia, Ectopia pupillae	OMIM:156900
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Cataract, Microphthalmia, Low-set ears	ORPHA:93267
Dyskeratosis Congenita, Autosomal Recessive 6	Nail dystrophy, Sparse hair, Alopecia	OMIM:616353
Cutaneous Small Vessel Vasculitis	Purpura, Skin rash, Urticaria, Cutis marmorata, Recurrent skin infections, Erythema	ORPHA:889
Donohue Syndrome	Nail dysplasia, Macrotia, Low-set ears, Hypertrichosis	OMIM:246200
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Broad eyebrow, Low-set ears, Hearing impairment, Macrotia, Protruding ear, Overfolded helix	ORPHA:481152
Immunodeficiency 84	Perianal abscess, B lymphocytopenia, Splenomegaly	OMIM:619437
Premature Aging Syndrome, Penttinen Type	Corneal stromal edema, Hyperkeratosis, Corneal opacity, Thickened skin, Sparse hair, Palmoplantar...	OMIM:601812
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Alopecia, Brittle hair	ORPHA:50812
Braddock-Carey Syndrome 2	Hearing impairment, Atresia of the external auditory canal, Microphthalmia	OMIM:619981
Congenital Bile Acid Synthesis Defect Type 2	Jaundice, Elevated circulating hepatic transaminase concentration, Giant cell hepatitis, Abnormal...	ORPHA:79303
Hermansky-Pudlak Syndrome	Astigmatism, Hypopigmentation of hair, Hyperkeratosis, Long eyelashes, Thickened skin, Iris hypop...	ORPHA:79430
Reynolds Syndrome	Skin ulcer, Keratoconjunctivitis sicca, Arthritis, Skin rash, Pruritus, Infectious encephalitis	ORPHA:779
Wiedemann-Rautenstrauch Syndrome	Alopecia of scalp, Broad eyebrow, Premature skin wrinkling, Small nail, Prematurely aged appearan...	OMIM:264090
Noonan Syndrome 14	Dry skin, Low posterior hairline, Curly hair, Sparse eyebrow, Sparse hair	OMIM:619745
Jaberi-Elahi Syndrome	Brittle hair, Low-set ears, Cataract, Sparse eyelashes, Sparse eyebrow, Sparse hair, Protruding e...	OMIM:617988
Kabuki Syndrome 2	Recurrent otitis media, Highly arched eyebrow, Hirsutism, Low-set ears, Long eyelashes, Hearing i...	OMIM:300867
Noonan Syndrome 6	Sensorineural hearing impairment, Low-set ears, Long eyebrows, Low posterior hairline, Curly hair...	OMIM:613224
Brachyolmia Type 1, Toledo Type	Opacification of the corneal stroma	OMIM:271630
Dowling-Degos Disease	Abnormal fingernail morphology, Hyperkeratosis, Hyperkeratotic papule	ORPHA:79145
Cutis Laxa, Autosomal Recessive, Type Iib	Excessive wrinkled skin, Redundant skin, Lack of skin elasticity, Protruding ear, Bruising suscep...	OMIM:612940
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Nail dystrophy, Small nail, Abnormal fingernail morphology, Abnormal toenail morphology, Anonychi...	ORPHA:79410
Osteoporosis-Pseudoglioma Syndrome	Corneal opacity	ORPHA:2788
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Iris transillumination defect, Microphthalmia, Microcornea, Posteriorly rotated ears, Congenital ...	OMIM:617306
Classic Phenylketonuria	Cataract, Lack of skin elasticity, Hypopigmentation of hair, Eczematoid dermatitis	ORPHA:79254
Intellectual Developmental Disorder, Autosomal Recessive 72	Low-set ears, Macrotia, Posteriorly rotated ears	OMIM:618665
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	Skin ulcer, Osteomyelitis	OMIM:613640
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Parakeratosis	ORPHA:158681
2Q32Q33 Microdeletion Syndrome	Fine hair, Low-set ears, Sparse hair	ORPHA:251019
Limb-Mammary Syndrome	Nail dysplasia, Chronic irritative conjunctivitis, Breast aplasia, Hypoplastic nipples, Absent ni...	ORPHA:69085
Roifman Syndrome	Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Eczematoid dermatitis, Recurrent pneumonia...	OMIM:616651
Filippi Syndrome	Frontal hirsutism, Hypertrichosis, Sparse hair	OMIM:272440
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Developmental glaucoma, Corneal opacity, Aniridia	ORPHA:1064
Mietens Syndrome	Cataract, Microcornea, Sclerocornea, Corneal opacity	ORPHA:2557
Familial Pseudohyperkalemia	Increased mean corpuscular volume, Stomatocytosis, Reticulocytosis, Episodic hemolytic anemia	ORPHA:90044
Ruijs-Aalfs Syndrome	Premature graying of hair, Posterior subcapsular cataract, Cataract, Sparse hair	OMIM:616200
Immunodeficiency 52	Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Bronchiectasis, Recurrent...	OMIM:617514
Hermansky-Pudlak Syndrome 10	Macrotia, Albinism, Low-set ears, Ocular albinism	OMIM:617050
Xeroderma Pigmentosum, Complementation Group D	Corneal neovascularization, Microphthalmia, Cutaneous photosensitivity, Sensorineural hearing imp...	OMIM:278730
Idiopathic Aplastic Anemia	Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia	ORPHA:88
Hereditary Sensory And Autonomic Neuropathy Type 1	Skin ulcer, Penetrating foot ulcers, Osteomyelitis	ORPHA:36386
Progeria-Short Stature-Pigmented Nevi Syndrome	Progeroid facial appearance, Neoplasm of the pancreas, Prematurely aged appearance, Band keratopa...	ORPHA:2959
Systemic Lupus Erythematosus 17	Alopecia	OMIM:301080
Oculotrichoanal Syndrome	Microphthalmia, Abnormal hair pattern, Anophthalmia	ORPHA:2717
Developmental And Epileptic Encephalopathy 110	Macrotia, Low-set ears	OMIM:620149
Chediak-Higashi Syndrome	Jaundice, Anemia, Hemophagocytosis, Hypopigmentation of hair, Silver-gray hair, Lymphadenopathy, ...	OMIM:214500
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Aplastic/hypoplastic toenail, Dry skin, Aplasia/Hypoplasia of the eyebrow, Fine hair, Supernumera...	ORPHA:1812
Pemphigus Erythematosus	Acantholysis	ORPHA:79480
Roifman Syndrome	Recurrent otitis media, Lymphadenopathy, Eczematoid dermatitis, Recurrent pneumonia, Hepatospleno...	ORPHA:353298
Hutchinson-Gilford Progeria Syndrome	Generalized abnormality of skin, Dystrophic fingernails, Loss of eyelashes, Premature skin wrinkl...	ORPHA:740
Cholestasis, Progressive Familial Intrahepatic, 8	Jaundice, Elevated circulating alkaline phosphatase concentration, Elevated circulating alanine a...	OMIM:619662
Biotinidase Deficiency	Seborrheic dermatitis, Skin rash, Conjunctivitis, Recurrent skin infections, Alopecia	OMIM:253260
Paget Disease Of Bone 3	Elevated circulating alkaline phosphatase concentration	OMIM:167250
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Elevated circulating alkaline phosphatase concentration	OMIM:616809
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Malar rash, N...	OMIM:603909
Satoyoshi Syndrome	Alopecia universalis, Alopecia	OMIM:600705
Lymphatic Malformation 12	Hyperkeratosis	OMIM:620014
Severe Combined Immunodeficiency, X-Linked	Chronic oral candidiasis, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutini...	OMIM:300400
Say Syndrome	Macrotia	OMIM:181180
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia, Microcornea, Long eyelashes, Sclerocornea, Ectopia pupillae, Cataract	OMIM:615877
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Cataract, Microcornea, Microphthalmia	ORPHA:48431
Caspase 8 Deficiency	Lymphadenopathy, Eczematoid dermatitis, Splenomegaly, Pneumonia, Decreased CD4:CD8 ratio	OMIM:607271
Immunodeficiency 25	Erythroderma, Recurrent pneumonia	OMIM:610163
Baraitser-Winter Syndrome 1	Microphthalmia, Highly arched eyebrow, Sensorineural hearing impairment, Low-set ears, Low poster...	OMIM:243310
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Dry skin	ORPHA:226313
Porphyria Cutanea Tarda	Scaling skin, Hepatic lobular inflammation, Cutaneous photosensitivity, Periportal fibrosis, Port...	ORPHA:101330
Polyarteritis Nodosa	Pericarditis, Skin ulcer, Erythema	ORPHA:767
Phoar2-Enteropathy Syndrome	Seborrheic dermatitis, Acne	OMIM:614441
Atkin-Flaitz Syndrome	Macrotia	ORPHA:1193
Ramon Syndrome	Hyperkeratosis, Axenfeld anomaly, Hypertrichosis	OMIM:266270
Ring Chromosome 10 Syndrome	Abnormal antihelix morphology, Large earlobe, Microphthalmia, Low-set ears	ORPHA:1438
Noonan Syndrome 9	Sparse eyebrow, Prominent corneal nerve fibers, Curly hair	OMIM:616559
Immunodeficiency 27A	Anemia, Thrombocytosis, Lymphadenopathy, Salmonella osteomyelitis, Leukocytosis, Increased inflam...	OMIM:209950
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Cheilitis, Corneal erosion, Hyperconvex fingernails, Corneal opacity, Sparse hair, Thin fingernai...	ORPHA:2273
Immunodeficiency, Common Variable, 2	Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Abnormal T cell count, Recurrent sinusitis...	OMIM:240500
Koolen-De Vries Syndrome	Abnormality of hair texture, Anteverted ears, Dry skin, Macrotia, Iris hypopigmentation, Cataract...	OMIM:610443
Fibrodysplasia Ossificans Progressiva	Elevated circulating alkaline phosphatase concentration, Alopecia	OMIM:135100
Blau Syndrome	Iritis, Skin ulcer, Arthritis, Synovitis, Eczematoid dermatitis, Pericarditis, Nongranulomatous u...	OMIM:186580
Congenital Disorder Of Glycosylation, Type Iil	Inflammation of the large intestine, Dry skin	OMIM:614576
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cataract, Corneal opacity	ORPHA:496790
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Dyskeratosis Congenita, Autosomal Dominant 3	Nail dysplasia, Premature graying of hair, Nail dystrophy, Dry skin, Fine hair, Alopecia	OMIM:613990
Hemifacial Atrophy, Progressive	Patchy alopecia, Poliosis	OMIM:141300
Chime Syndrome	Ichthyosis, Hyperkeratosis, Corneal opacity, Retinal coloboma, Sparse hair, Fine hair	ORPHA:3474
Refsum Disease	Nail dysplasia, Dry skin	ORPHA:773
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Hyperconvex nail, Nail dystrophy, Absent eyelashes, Patchy alopecia, Sparse eyelashes, Anhidrosis...	OMIM:106260
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Loose anagen hair, Astigmatism, Ichthyosis, Hyperkeratosis, Sparse scalp hair, Curly hair, Long e...	OMIM:607721
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Cataract, Microphthalmia	OMIM:251270
Congenital Disorder Of Glycosylation, Type Iie	Jaundice, Excessive wrinkled skin, Hepatomegaly, Low anterior hairline, Splenomegaly, Hypertrichosis	OMIM:608779
Congenital Disorder Of Glycosylation, Type Iia	Sensorineural hearing impairment, Hirsutism, Low-set ears, Long eyelashes, Macrotia, Posteriorly ...	OMIM:212066
17Q12 Microduplication Syndrome	Microphthalmia, Synophrys	ORPHA:261272
Arthrogryposis Multiplex Congenita 5	Macrotia, Prominent antihelix, Premature skin wrinkling	OMIM:618947
ERI1-related disease	Low-set ears, Macrotia, Conductive hearing impairment, Low anterior hairline, Sparse hair, Anonychia	OMIM:608739
Immunodeficiency, Common Variable, 1	Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Decreased proportion of class-switched mem...	OMIM:607594
Ectodermal Dysplasia-Skin Fragility Syndrome	Scaling skin, Nail dystrophy, Cheilitis, Fragile skin, Hypohidrosis, Recurrent pneumonia, Recurre...	ORPHA:158668
Intellectual Developmental Disorder, X-Linked 30	Macrotia	OMIM:300558
Lowry-Maclean Syndrome	Developmental glaucoma, Generalized hypertrichosis, Corneal opacity, Low-set ears, Megalocornea	ORPHA:2409
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Nail dysplasia, Curly eyelashes, Facial hirsutism, Microtia, Low posterior hairline, Curly hair, ...	ORPHA:163654
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Low-set ears, Prominent crus of helix, Synophrys, Macrotia, Posteriorly rotated ears, Thin eyebro...	OMIM:617804
Familial Benign Copper Deficiency	Early balding, Anemia, Acne	ORPHA:1551
8Q21.11 Microdeletion Syndrome	Microphthalmia, Corneal opacity, Low-set ears, Hearing impairment, Iris hypopigmentation, Scleroc...	ORPHA:284160
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia, Splenomegaly, Lymphop...	OMIM:619164
Gapo Syndrome	Prematurely aged appearance, Keratoconus, Low-set ears, Hearing impairment, Sparse eyelashes, Spa...	ORPHA:2067
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Pontocerebellar Hypoplasia, Type 11	Macrotia	OMIM:617695
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Sparse eyebrow, Sparse hair	OMIM:619989
Rere-Related Neurodevelopmental Syndrome	Microphthalmia, Astigmatism, Broad eyebrow, Low-set, posteriorly rotated ears, Hearing impairment...	ORPHA:494344
Hurler Syndrome	Hepatomegaly, Recurrent otitis media, Hirsutism, Corneal opacity, Enlarged tonsils, Hepatosplenom...	OMIM:607014
Johnson Neuroectodermal Syndrome	Absent eyelashes, Absent eyebrow, Hypohidrosis, Sparse hair, Alopecia	ORPHA:2316
Cholesteryl Ester Storage Disease	Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Pruritus	ORPHA:75234
Immunodeficiency, Common Variable, 8, With Autoimmunity	Chronic neutropenia, Recurrent sinusitis, Splenomegaly, Erythema nodosum, Pancytopenia, Thyroidit...	OMIM:614700
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Recurrent loss of toenails and fingernails, Nail dystrophy, Skin ulcer	OMIM:245660
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr...	ORPHA:436159
Ogden Syndrome	Redundant neck skin, Enlarged kidney, Redundant skin, Cutis laxa, Cardiomegaly, Fine hair, Jaundi...	OMIM:300855
Limited Cutaneous Systemic Sclerosis	Skin ulcer	ORPHA:220402
Wiedemann-Rautenstrauch Syndrome	Hearing abnormality, Recurrent otitis media, Premature skin wrinkling, Optic disc hypoplasia, Abs...	ORPHA:3455
Congenital Toxoplasmosis	Hearing impairment, Microphthalmia, Jaundice	ORPHA:858
Mandibuloacral Dysplasia	Hypoplastic fingernail, Thin skin, Increased subcutaneous truncal adipose tissue, Sparse hair, Al...	ORPHA:2457
Ritscher-Schinzel Syndrome 4	Macrotia, Curly hair	OMIM:619435
Beta-Thalassemia Intermedia	Anemia of inadequate production, Leukocytosis, Persistence of hemoglobin F, Hepatosplenomegaly, S...	ORPHA:231222
Fanconi Anemia, Complementation Group S	Microphthalmia, Low anterior hairline, Sparse hair, Long eyelashes	OMIM:617883
Pseudoleprechaunism Syndrome, Patterson Type	Macrotia, Palmoplantar cutis laxa, Hirsutism	ORPHA:2976
Xq28 (MECP2) duplication	Macrotia	DECIPHER:45
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Skin ulcer, Panniculitis	ORPHA:86884
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Chronic oral candidiasis, Abnormal lymph node morphology, Lymphadeno...	ORPHA:911
Anauxetic Dysplasia 2	Nail dysplasia, Sparse hair, Small nail	OMIM:617396
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia, Sensorineural hearing impairment, Hirsutism, Cataract, Abnormality of the ear	OMIM:214150
Cholesteryl Ester Storage Disease	Portal hypertension, Reduced lysosomal acid lipase activity, Increased circulating lactate dehydr...	OMIM:278000
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia, Highly arched eyebrow, Microcornea, Sparse pubic hair, Cupped ear	OMIM:110100
Kury-Isidor Syndrome	Astigmatism, Hypertrichosis, Alopecia	OMIM:619762
Spinocerebellar Ataxia 34	Erythroderma	OMIM:133190
Pseudoxanthoma Elasticum	Excessive wrinkled skin, Skin rash, Telangiectasia of the skin, Lack of skin elasticity, Acne, Br...	ORPHA:758
Autosomal Erythropoietic Protoporphyria	Cirrhosis, Cholelithiasis, Cutaneous photosensitivity, Eczematoid dermatitis, Pruritus, Microcyti...	ORPHA:79278
Leishmaniasis	Rhinitis, Skin ulcer, Pallor	ORPHA:507
Dyskeratosis Congenita	Premature graying of hair, Nail dystrophy, Neoplasm of the pancreas, Aplastic/hypoplastic toenail...	ORPHA:1775
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Sensorineural hearing impairment, Low-set ears, Synophrys, Curly hair, Sparse eyebrow, Sparse hair	OMIM:620075
Vernal Keratoconjunctivitis	Corneal neovascularization, Corneal ulceration, Keratoconus, Keratoconjunctivitis, Punctate kerat...	ORPHA:70476
Cockayne Syndrome B	Hepatomegaly, Abnormal hair morphology, Cutaneous photosensitivity, Prematurely aged appearance, ...	OMIM:133540
Otodental Syndrome	Microphthalmia, Microcornea, Otitis media with effusion, High-frequency sensorineural hearing imp...	ORPHA:2791
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia	OMIM:615524
Autoimmune Polyendocrinopathy Type 2	Hypoparathyroidism, Alopecia	ORPHA:3143
Takayasu Arteritis	Arthritis, Skin ulcer, Increased inflammatory response, Inflammatory abnormality of the eye	ORPHA:3287
Ectodermal Dysplasia And Immunodeficiency 2	Hepatomegaly, Sparse scalp hair, Dry skin, Hypohidrosis, Anhidrosis, Splenomegaly, Sparse hair, A...	OMIM:612132
Fragile X Syndrome	Macrotia	OMIM:300624
Curry-Jones Syndrome	Microphthalmia, Generalized hirsutism, Iris coloboma	ORPHA:1553
Mandibuloacral Dysplasia With Type B Lipodystrophy	Decreased adipose tissue around neck, Progeroid facial appearance, Brittle hair, Sparse hair, Pro...	OMIM:608612
Immunodeficiency 97 With Autoinflammation	Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer cell count, Hepatosplenomegaly, ...	OMIM:619802
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Cataract, Microphthalmia, Sparse hair	OMIM:614105
Milroy Disease	Hyperkeratosis, Toenail dysplasia	ORPHA:79452
Meckel Syndrome, Type 8	Microphthalmia, Low-set ears, Anophthalmia	OMIM:613885
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Nail dystrophy, Sparse scalp hair, Fragile skin, Sparse eyelashes, Macrotia, Sparse eyebrow, Onyc...	OMIM:614748
Mucopolysaccharidosis Type 1	Chronic otitis media, Abnormality of the tonsils, Corneal opacity, Sinusitis, Generalized hirsuti...	ORPHA:579
Amyloidosis, Familial Visceral	Skin rash, Hepatomegaly, Cholestasis, Splenomegaly	OMIM:105200
Sotos Syndrome	High anterior hairline, Small nail, Low-set ears, Macrotia, Conductive hearing impairment, Sparse...	OMIM:117550
Seckel Syndrome	Prematurely aged appearance, Absent earlobe, Sparse scalp hair, Abnormal earlobe morphology	ORPHA:808
Scrub Typhus	Myocarditis, Lymphadenopathy, Skin rash, Hyperhidrosis, Splenomegaly, Anterior uveitis, Infectiou...	ORPHA:83317
Gm1 Gangliosidosis	Hirsutism, Corneal opacity, Aspiration pneumonia, Generalized hirsutism, Splenomegaly, Hepatosple...	ORPHA:354
Holocarboxylase Synthetase Deficiency	Perioral eczema, Keratoconjunctivitis, Eczematoid dermatitis, Thrombocytopenia, Alopecia	ORPHA:79242
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid...	OMIM:237800
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Sensorineural hearing impairment, Corneal opacity, Aplasia/Hypoplasia a...	ORPHA:2719
Focal Dermal Hypoplasia	Microphthalmia, Iris coloboma, Abnormality of the nail, Abnormality of the middle ear, Low-set ea...	ORPHA:2092
Vulto-Van Silfhout-De Vries Syndrome	Horizontal eyebrow, Fine hair, Widow's peak	OMIM:615828
Dermochondrocorneal Dystrophy	Corneal dystrophy, Subepithelial corneal opacities, Anterior cortical cataract	OMIM:221800
Acquired Purpura Fulminans	Macular purpura, Skin rash, Pyoderma gangrenosum	ORPHA:49566
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia, Astigmatism, Low-set ears, Cataract, Horizontal eyebrow, Protruding ear	OMIM:618571
Immunodeficiency 10	Nail dysplasia, Autoimmune hemolytic anemia, Hepatomegaly, Recurrent otitis media, Lymphadenopath...	OMIM:612783
Kikuchi-Fujimoto Disease	Lymphocytosis, Skin rash, Pustule, Leukopenia, Splenomegaly, Neutropenia, Myocarditis, Generalize...	ORPHA:50918
Chondrodysplasia Punctata 2, X-Linked Dominant	Patchy alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Erythroderma	OMIM:302960
Noonan Syndrome 10	Hyperkeratosis, Prominent corneal nerve fibers, Sparse eyebrow, Curly hair	OMIM:616564
Epiphyseal Chondrodysplasia, Miura Type	Elevated alkaline phosphatase of bone origin	OMIM:615923
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Woolly hair	OMIM:607450
X-Linked Intellectual Disability, Shashi Type	Macrotia	ORPHA:85286
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Fine hair, High anterior hairline, Long eyelashes	ORPHA:231137
Cryoglobulinemic Vasculitis	Purpura, Skin ulcer, Petechiae, Arthritis, Viral hepatitis, Keratoconjunctivitis sicca	ORPHA:91138
Gapo Syndrome	Nail dysplasia, Breast hypoplasia, Keratoconus, Redundant skin, Hypoplastic nipples, Megalocornea...	OMIM:230740
Cockayne Syndrome Type 3	Premature graying of hair, Microphthalmia, Keratoconjunctivitis sicca, Corneal ulceration, Cutane...	ORPHA:90324
Warburg Micro Syndrome 4	Microphthalmia, Microcornea, Hirsutism, Developmental cataract, Low anterior hairline	OMIM:615663
Dermatomyositis	Myocarditis, Facial erythema, Skin ulcer, Erythema, V-sign, Abnormality of the nail, Abnormal hai...	ORPHA:221
Noonan Syndrome 4	Blue irides, High anterior hairline, Low-set ears, Curly hair, Sparse eyebrow, Posteriorly rotate...	OMIM:610733
Lcat Deficiency	Corneal opacity	ORPHA:650
3Q29 Microduplication Syndrome	Microphthalmia, Aniridia, Low-set ears, Hearing impairment, Sclerocornea, Cataract, Iris coloboma	ORPHA:251038
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Macrotia	OMIM:620292
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Highly arched eyebrow, Low posterior hairline, Macrotia, Low anterior hairline, Prominent antihelix	OMIM:615802
Ollier Disease	Skin ulcer	ORPHA:296
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia, Microcornea, Low-set ears, Uplifted earlobe, Sparse hair, Cataract	OMIM:616449
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Elevated circulating alkaline phosphatase concentration, Intermittent j...	OMIM:601847
Ring Chromosome 22 Syndrome	Macrotia, Thick eyebrow, Toenail dysplasia	ORPHA:1446
Bone Marrow Failure Syndrome 3	Nail dystrophy, Astigmatism, Small nail, Hyperkeratosis, Sparse hair, Aplasia/Hypoplasia of the e...	OMIM:617052
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Recurrent otitis media, Decreased proportion of class-switched memory B cells, Atopic dermatitis,...	OMIM:618944
Gomez-Lopez-Hernandez Syndrome	Opacification of the corneal stroma, Alopecia	OMIM:601853
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microtia, Microphthalmia	ORPHA:2547
Singleton-Merten Syndrome 2	Hyperkeratosis	OMIM:616298
Ophthalmomandibulomelic Dysplasia	Opacification of the corneal stroma, Megalocornea	OMIM:164900
Primary Myelofibrosis	Purpura, Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Petechiae, Extramedullary hematopoi...	ORPHA:824
Koolen-De Vries Syndrome	Abnormality of hair texture, Dry skin, Hypopigmentation of hair	ORPHA:96169
Geroderma Osteodysplastica	Prematurely aged appearance, Thin skin, Microcornea, Redundant skin	ORPHA:2078
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Crohn's disease, Acute pancreatitis, Ly...	OMIM:618935
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Crohn's disease, Arthritis, Eczematoi...	OMIM:616100
Chronic Granulomatous Disease	Skin ulcer, Inflammatory abnormality of the eye, Eczematoid dermatitis, Sinusitis, Otitis media	ORPHA:379
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cataract, Microphthalmia	OMIM:601794
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Chronic otitis media, Toenail dysplasia, Hirsutism, Low-set ears, Synophrys, Hearing impairment, ...	OMIM:300966
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat...	OMIM:618534
Ververi-Brady Syndrome	Macrotia, Low-set ears, Cupped ear	OMIM:617982
Behcet Syndrome	Iritis, Arthritis, Patchy alopecia, Epididymitis, Iridocyclitis, Erythema nodosum, Erythema	OMIM:109650
Pontocerebellar Hypoplasia, Type 7	Macrotia, Hirsutism, Low-set ears, Synophrys	OMIM:614969
X-Linked Intellectual Disability, Seemanova Type	Macrotia, Developmental cataract	ORPHA:85323
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Lymphangioma, Ovarian neoplasm, Excessive wrinkled skin	ORPHA:137608
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia, Developmental cataract	OMIM:613155
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Cataract, Optic nerve hypoplasia, Microphthalmia	OMIM:615181
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Microphthalmia	OMIM:218670
Intellectual Disability-Strabismus Syndrome	Recurrent otitis media, Highly arched eyebrow, Low-set ears, Synophrys, Hearing impairment, Macrotia	ORPHA:363528
Occipital Horn Syndrome	Bruising susceptibility, Thick hair, Jaundice, Coarse hair	ORPHA:198
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Scaling skin, Leukonychia, Skin ulcer, Panniculitis, Abnormal hair morphology, Abnormal eyelash m...	ORPHA:2526
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Fusariosis	Skin ulcer, Panniculitis, Maculopapular exanthema, Myositis, Arthritis, Bronchiectasis, Sinusitis...	ORPHA:228119
Rabson-Mendenhall Syndrome	Premature graying of hair, Thick hair, Hirsutism, Dry skin, Macrotia, Reduced subcutaneous adipos...	ORPHA:769
X-Linked Intellectual Disability, Nascimento Type	Nail dystrophy, Lumbar hypertrichosis, Low posterior hairline, Synophrys, Dry skin, Generalized h...	ORPHA:163956
Cockayne Syndrome Type 1	Cutaneous photosensitivity, Anophthalmia, Absent brainstem auditory responses, Hearing impairment...	ORPHA:90321
Autoinflammatory-Pancytopenia Syndrome	Cholestatic liver disease, Hemophagocytosis, Intestinal inflammation, Pancytopenia, Chilblains, H...	OMIM:619858
Hartsfield Syndrome	Microphthalmia, Low-set, posteriorly rotated ears	ORPHA:2117
Scheie Syndrome	Rhinitis, Hepatomegaly, Corneal opacity, Splenomegaly	ORPHA:93474
Adult-Onset Still Disease	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Erythema, Arthritis, Skin rash, Leukocytosis,...	ORPHA:829
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Lymphadenopathy, Arthritis, Skin rash, Pericarditis, Splenomegaly, Anterior uveitis...	ORPHA:85414
Iga Pemphigus	Generalized abnormality of skin, Skin vesicle, Eosinophilia, Pustule, Neutrophilic infiltration o...	ORPHA:555905
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Lymphadenopathy, Hemophagocytosis, Recurrent sinusitis, Thrombocytopenia, Hepatosplenomeg...	OMIM:613101
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Macrotia, Low-set ears	OMIM:616789
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia, Microcornea, Hypoplastic nipples, Low-set ears, Posteriorly rotated ears, Overfol...	OMIM:156610
Ssr4-Cdg	Macrotia	ORPHA:370927
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Scaling skin, Parakeratosis, Psoriasiform lesion, Superficial dermal perivascular inflammatory in...	ORPHA:284426
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Cataract, Microphthalmia	ORPHA:363741
Nestor-Guillermo Progeria Syndrome	Nail dystrophy, Sparse scalp hair, Dry skin, Sparse eyelashes, Sparse eyebrow, Alopecia	OMIM:614008
Galloway-Mowat Syndrome 1	Microphthalmia, Small nail, Low-set ears, Hypoplasia of the iris, Macrotia, Cataract, Opacificati...	OMIM:251300
Cholestasis, Progressive Familial Intrahepatic, 9	Intrahepatic cholestasis, Jaundice, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Graft Versus Host Disease	Scaling skin, Gastrointestinal inflammation, Jaundice, Lymphadenopathy, Hemophagocytosis, Inflamm...	ORPHA:39812
Laron Syndrome	Hypohidrosis, Prematurely aged appearance, Osteoarthritis	ORPHA:633
21Q22.11Q22.12 Microdeletion Syndrome	Nail dystrophy, Recurrent otitis media, Small nail, Hypoplastic nipples, Dry skin	ORPHA:261323
Zika Virus Disease	Myelitis, Maculopapular exanthema, Subcutaneous hemorrhage, Arthritis, Skin rash, Thrombocytopeni...	ORPHA:448237
Periodic Fever, Familial, Autosomal Dominant	Hepatomegaly, Myositis, Skin rash, Erysipelas, Conjunctival hyperemia, Conjunctivitis, Hepatic am...	OMIM:142680
Oculofaciocardiodental Syndrome	Microphthalmia, Highly arched eyebrow, Sensorineural hearing impairment, Microcornea, Hearing imp...	ORPHA:2712
Proteus-Like Syndrome	Heterochromia iridis, Cataract, Subcutaneous lipoma, Splenomegaly, Thymus hyperplasia, Limbal der...	ORPHA:2969
Distal Monosomy 7Q36	Macrotia	ORPHA:1636
Cinca Syndrome	Anemia, Lymphadenopathy, Arthritis, Skin rash, Leukocytosis, Hepatosplenomegaly, Eosinophilia, Uv...	OMIM:607115
Sheehan Syndrome	Breast hypoplasia, Dry skin, Hashimoto thyroiditis, Sparse pubic hair, Sparse axillary hair, Pallor	ORPHA:91355
Aicardi-Goutieres Syndrome 9	Pericarditis, Acute pancreatitis, Chilblains, Dry skin	OMIM:619487
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Highly arched eyebrow, Low-set ears, Low posterior hairline, Macrotia, Posteriorly rotated ears, ...	OMIM:613563
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Protruding ear, Macrotia, Thick eyebrow, Patchy alopecia	OMIM:300534
Kapur-Toriello Syndrome	Microphthalmia, Low-set ears, Atresia of the external auditory canal, Posteriorly rotated ears, I...	ORPHA:2328
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Anhidrosis, Urticaria, Splenomegaly, Pancytopenia	OMIM:614979
Müllerian Aplasia And Hyperandrogenism	High anterior hairline, Frontal balding, Facial hirsutism, Hirsutism, Abnormality of the ovary, S...	ORPHA:247768
Lissencephaly 8	Cataract, Microphthalmia	OMIM:617255
Hemochromatosis, Type 1	Cirrhosis, Hepatomegaly, Alopecia, Hepatocellular carcinoma, Ascites, Splenomegaly, Cardiomegaly,...	OMIM:235200
Blau Syndrome	Skin ulcer, Erythema, Skin rash, Posterior uveitis, Dry skin, Synovitis, Pericarditis, Keratitis,...	ORPHA:90340
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia, Small nail, Small earlobe, Corneal opacity, Synophrys, Hearing impairment, Thin e...	ORPHA:364577
Alg11-Cdg	Dry skin	ORPHA:280071
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Lymphadenopathy, Inflammatory abnormality of the eye, Arthritis, Skin rash, Ascites...	ORPHA:36412
Congenital Disorder Of Glycosylation, Type Iio	Prolonged neonatal jaundice, Elevated alkaline phosphatase of bone origin, Elevated circulating h...	OMIM:616828
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Skin rash, Dry skin	ORPHA:220295
Chromosome 6Pter-P24 Deletion Syndrome	Ocular anterior segment dysgenesis, Sensorineural hearing impairment, Low-set ears, Axenfeld anom...	OMIM:612582
Giant Axonal Neuropathy	Pili canaliculi, Woolly hair	ORPHA:643
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Jaundice, Hepatomegaly, Skin rash, Anemia of inadequate production, Exocrine pancreatic insuffici...	OMIM:612714
Alpha-Mannosidosis, Adult Form	Pneumonia, Pancytopenia, Corneal opacity, Hepatosplenomegaly, Cataract	ORPHA:309288
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Microcytic anemia	ORPHA:98791
Emanuel Syndrome	Redundant neck skin, Recurrent otitis media, Astigmatism, Severe hearing impairment, Low-set ears...	ORPHA:96170
Autoinflammation With Infantile Enterocolitis	Anemia, Pancytopenia, Skin rash, Urticaria, Enterocolitis, Thrombocytopenia, Splenomegaly, Reduce...	OMIM:616050
Musculocontractural Ehlers-Danlos Syndrome	Astigmatism, Low-set, posteriorly rotated ears, Abnormal pinna morphology, Redundant skin, Hearin...	ORPHA:2953
Sweet Syndrome	Panniculitis, Myositis, Predominantly dermal neutrophilic infiltrate, Inflammation of the large i...	ORPHA:3243
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Juvenile cataract, Macrotia	OMIM:300055
Muckle-Wells Syndrome	Hepatomegaly, Anemia, Recurrent aphthous stomatitis, Arthritis, Skin rash, Episcleritis, Urticari...	ORPHA:575
Sanjad-Sakati Syndrome	Astigmatism, Low-set, posteriorly rotated ears, Abnormal pinna morphology, Corneal opacity, Aplas...	ORPHA:2323
Intellectual Developmental Disorder, Autosomal Dominant 54	Dry skin, Thin nail, Sparse hair, Eczematoid dermatitis	OMIM:617799
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Anophthalmia, Hearing impairment, Sclerocornea, Iris coloboma	ORPHA:77298
Majeed Syndrome	Hepatomegaly, Hypochromic microcytic anemia, Leukocytosis, Synovitis, Pustule, Inflammatory abnor...	ORPHA:77297
Biemond Syndrome Type 2	Microphthalmia	ORPHA:141333
Dyschondrosteosis-Nephritis Syndrome	Corneal opacity	ORPHA:1765
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cataract, Microphthalmia	OMIM:613730
Myoectodermal Gonadal Dysgenesis Syndrome	Scaling skin, Highly arched eyebrow, Dry skin, Sparse eyebrow, Sparse pubic hair, Absent axillary...	OMIM:618419
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Nail dystrophy, Lymphadenitis, Eczematoid dermatitis, Inflammation of the large intestine, Erythr...	OMIM:615895
Adams-Oliver Syndrome	Hypoplastic fingernail, Aplastic/hypoplastic toenail, Absent fingernail, Cutis marmorata, Sparse ...	ORPHA:974
Optic Atrophy 11	Hearing impairment, Macrotia, Optic nerve hypoplasia	OMIM:617302
Distal Deletion 6P	Abnormal anterior chamber morphology, Corneal opacity, Low-set ears, Hypoplasia of the iris, Hear...	ORPHA:96125
Intellectual Developmental Disorder, Autosomal Recessive 5	Thick eyebrow, Sparse hair, Synophrys	OMIM:611091
Acrofacial Dysostosis, Palagonia Type	Sparse eyelashes, Sparse lateral eyebrow, Low anterior hairline, Thin eyebrow, Sparse hair, Pili ...	ORPHA:1787
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Chronic otitis media, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, M...	ORPHA:3226
Auriculocondylar Syndrome 2B	Limbal dermoid, Sparse hair, Synophrys	OMIM:620458
Pediatric Systemic Lupus Erythematosus	Lymphadenopathy, Malar rash, Arthritis, Skin rash, Discoid lupus rash, Myositis, Ascites, Nephrit...	ORPHA:93552
Intellectual Developmental Disorder, Autosomal Dominant 58	Hypoplastic fifth toenail, Macrotia, Posteriorly rotated ears	OMIM:618106
Oculodentodigital Dysplasia	Microphthalmia, Slow-growing hair, Abnormal pinna morphology, Microcornea, Conductive hearing imp...	OMIM:164200
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Hirsutism, Low posterior hairline, Synophrys, Macrotia, Mucosal telangiectasiae	ORPHA:2463
Cockayne Syndrome A	Hepatomegaly, Cutaneous photosensitivity, Prematurely aged appearance, Dry skin, Thymic hormone d...	OMIM:216400
Cranioectodermal Dysplasia	Abnormal fingernail morphology, Abnormal toenail morphology, Sparse hair	ORPHA:1515
Arterial Tortuosity Syndrome	Astigmatism, Keratoconus, Cutis laxa, Macrotia, Bruising susceptibility, Telangiectases of the ch...	OMIM:208050
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Nail dysplasia, Nail dystrophy, Cataract, Alopecia	OMIM:175500
Autoimmune Polyendocrine Syndrome, Type Ii	Cirrhosis, Iron deficiency anemia, Band keratopathy, Chronic mucocutaneous candidiasis, Keratocon...	OMIM:269200
Kindler Epidermolysis Bullosa	Cheilitis, Anemia, Cutaneous photosensitivity, Periodontitis, Hyperkeratosis, Corneal opacity, Es...	ORPHA:2908
3Mc Syndrome 3	Highly arched eyebrow, Abnormal pinna morphology, Corneal opacity, Auricular pit, Hearing impairment	OMIM:248340
Microphthalmia, Isolated 8	Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia	OMIM:615113
Mucolipidosis Type Iii Alpha/Beta	Thickened skin, Corneal opacity	ORPHA:423461
Syndromic Diarrhea	Trichorrhexis nodosa, Gastritis, Hypopigmentation of hair, Brittle hair, Uncombable hair, Dry ski...	ORPHA:84064
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	High anterior hairline, Microphthalmia, Low-set ears, Synophrys, Sparse eyebrow, Thick eyebrow, P...	OMIM:620098
Gm1-Gangliosidosis, Type Iii	Opacification of the corneal stroma, Hepatomegaly, Splenomegaly	OMIM:230650
Neurotrophic Keratopathy	Recurrent corneal erosions, Astigmatism, Corneal ulceration, Corneal stromal edema, Corneal scarr...	ORPHA:137596
Abnormal Hair, Joint Laxity, And Developmental Delay	Trichorrhexis nodosa, Small nail, Sparse lateral eyebrow, Fragile nails, Pili torti, Alopecia	OMIM:261990
Multiple Sulfatase Deficiency	Ichthyosis, Corneal opacity	OMIM:272200
Xeroderma Pigmentosum	Pterygium, Hyperkeratosis, Conjunctival telangiectasia, Thickened skin, Keratitis, Cataract, Opac...	ORPHA:910
Hurler Syndrome	Hepatomegaly, Abnormality of the tonsils, Corneal opacity, Rhinitis, Thick eyebrow, Generalized h...	ORPHA:93473
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Hepatomegaly, Panniculitis, Lymphadenopathy, Myositis, Splenomegaly,...	OMIM:619183
Kapur-Toriello Syndrome	Microphthalmia, Low-set ears, Low posterior hairline, Conductive hearing impairment, Cataract, Ir...	OMIM:244300
Hallermann-Streiff Syndrome	Sparse scalp hair, Dry skin, Sparse eyelashes, Sparse eyebrow, Recurrent pneumonia, Sparse hair, ...	OMIM:234100
3Mc Syndrome	Abnormal anterior chamber morphology, Highly arched eyebrow, Abnormal pinna morphology, Low-set e...	ORPHA:293843
Mosaic Trisomy 8	Abnormal antihelix morphology, Abnormal pinna morphology, Corneal opacity, Hearing impairment, Ma...	ORPHA:96061
Tonne-Kalscheuer Syndrome	Concave nail, Fine hair, Blue irides, Small nail	OMIM:300978
Acquired Generalized Lipodystrophy	Cirrhosis, Hepatomegaly, Panniculitis, Acute pancreatitis, Generalized hirsutism, Polycystic ovar...	ORPHA:79086
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Anemia, Panniculitis, Lymphadenopathy, Myositis, Arthritis, Skin rash, Sinusitis, C...	OMIM:617591
Severe Oculo-Renal-Cerebellar Syndrome	Large earlobe, Macrotia, Cataract	ORPHA:2715
Mannosidosis, Alpha B, Lysosomal	Sensorineural hearing impairment, Macrotia, Thick eyebrow, Low anterior hairline, Hypertrichosis	OMIM:248500
Resistance To Thyrotropin-Releasing Hormone Syndrome	Dry skin	ORPHA:99832
Chromosome 5P13 Duplication Syndrome	Astigmatism, Low posterior hairline, Sparse hair	OMIM:613174
Frontonasal Dysplasia 2	Microphthalmia, Low-set ears, Sparse eyelashes, Sparse eyebrow, Sparse hair, Alopecia totalis, Fi...	OMIM:613451
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Skin rash, Astigmatism, Low posterior hairline, Long eyelashes	OMIM:617523
Lymphoproliferative Syndrome 2	Aplastic anemia, EBV encephalitis, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia,...	OMIM:615122
Zellweger Syndrome	Jaundice, Sensorineural hearing impairment, Abnormal pinna morphology, Corneal opacity, Posterior...	ORPHA:912
Punctate Palmoplantar Keratoderma Type 1	Nail dystrophy, Hypergranulosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Hyperkera...	ORPHA:79501
Camurati-Engelmann Disease, Type 2	Elevated circulating alkaline phosphatase concentration	OMIM:606631
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hyperkeratosis	ORPHA:163966
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Recurrent corneal erosions, Nail dysplasia, Nail dystrophy, Dystrophic fingernails, Corneal neova...	OMIM:308205
Emanuel Syndrome	Recurrent otitis media, Astigmatism, Low-set ears, Hearing impairment, Macrotia	OMIM:609029
Chromosome 2P16.1-P15 Deletion Syndrome	Sensorineural hearing impairment, Optic nerve hypoplasia, Low-set ears, Hearing impairment, Macro...	OMIM:612513
Poems Syndrome	Leukonychia, Hepatomegaly, Lymphadenopathy, Visceromegaly, Ascites, Plethora, Polycythemia, Splen...	ORPHA:2905
Hypophosphatemic Rickets, Autosomal Dominant	Elevated circulating alkaline phosphatase concentration	OMIM:193100
Weaver Syndrome	Thin nail, Deep-set nails, Macrotia, Cutis laxa, Sparse hair, Fine hair	OMIM:277590
Frontorhiny	Microphthalmia, Low-set, posteriorly rotated ears, Cataract, Widow's peak, Congenital conductive ...	ORPHA:391474
Plague	Carbuncle, Skin ulcer, Inflammatory abnormality of the eye, Acute infectious pneumonia, Arthritis...	ORPHA:707
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia, Cutaneous photosensitivity, Sensorineural hearing impairment, Cataract, Progeroid...	OMIM:610651
Cyclic Neutropenia	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Decreased eosinophil count, Periodontit...	ORPHA:2686
Sympathetic Ophthalmia	Anterior chamber cells, Poliosis, Corneal keratic precipitates, Cataract, Posterior synechiae of ...	ORPHA:79098
Fetal Alcohol Syndrome	Microphthalmia, Generalized hirsutism, Low-set, posteriorly rotated ears	ORPHA:1915
Dubowitz Syndrome	Sparse scalp hair, Dry skin, Eczematoid dermatitis, Sparse lateral eyebrow, Abnormal fingernail m...	ORPHA:235
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Elevated circulating alkaline phosphatase concentration	OMIM:615422
Autosomal Dominant Severe Congenital Neutropenia	Recurrent aphthous stomatitis, Periodontitis, Rhinitis, Pneumonia, Recurrent skin infections, Pyo...	ORPHA:486
3Q29 Microdeletion Syndrome	Cataract, Macrotia, Microphthalmia, Low-set ears	ORPHA:65286
Tetrasomy 12P	Hypohidrosis, Sparse eyebrow, Sparse hair	ORPHA:884
Subcorneal Pustular Dermatosis	Rheumatoid arthritis, Pustule, Erythema, Pruritus	ORPHA:48377
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Broad eyebrow, Optic nerve hypoplasia, Corneal dystrophy, Hirsutism, Low-set ears, Corneal opacit...	ORPHA:495875
American Trypanosomiasis	Myocarditis, Hepatomegaly, Lymphadenopathy, Skin rash, Splenomegaly, Pallor, Infectious encephalitis	ORPHA:3386
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	OMIM:601859
Al-Gazali Syndrome	Sclerocornea, Corneal opacity	OMIM:609465
Severe X-Linked Intellectual Disability, Gustavson Type	Macrotia, Abnormal pinna morphology, Profound hearing impairment	ORPHA:3078
Keppen-Lubinsky Syndrome	Premature skin wrinkling, Abnormally large globe, Progeroid facial appearance	ORPHA:435628
Classical-Like Ehlers-Danlos Syndrome Type 2	Astigmatism, Redundant skin, Prominent veins on trunk, Macrotia, Bruising susceptibility, Keratoc...	ORPHA:536532
Rat-Bite Fever	Morbilliform rash, Myocarditis, Scaling skin, Pancreatitis, Arthritis, Skin rash, Parotitis, Lymp...	ORPHA:31205
Xk Aprosencephaly Syndrome	Microphthalmia	ORPHA:3469
Immunodeficiency, Common Variable, 10	Alopecia totalis, Psoriasiform dermatitis, Trachyonychia	OMIM:615577
Macs Syndrome	Redundant skin, Cutis laxa, Sparse eyebrow, Sparse hair, Bruising susceptibility, Alopecia	OMIM:613075
Manitoba Oculotrichoanal Syndrome	Corneopalpebral synechiae, Microphthalmia, Abnormality of the hairline, Anophthalmia	OMIM:248450
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Skin rash, Bone marrow hypocellularity, Cutis marmorata, Leukopenia, Splenomegaly, Recurrent sinu...	OMIM:615688
Primary Sjögren Syndrome	Purpura, Skin ulcer, Arteritis, Chronic active hepatitis, Myositis, Optic neuritis, Thyroiditis, ...	ORPHA:289390
Boutonneuse Fever	Lymphadenopathy, Petechiae, Skin rash, Thrombocytopenia, Leukopenia, Cervical lymphadenopathy, Ma...	ORPHA:83313
Garg-Mishra Progeroid Syndrome	Microphthalmia, Sparse hair, Small nail	OMIM:620601
Proteasome-Associated Autoinflammatory Syndrome 1	Premature graying of hair, Hepatomegaly, Panniculitis, Lymphadenopathy, Erythema, Cardiomegaly, R...	OMIM:256040
Osteopetrosis, Autosomal Recessive 9	Elevated circulating alkaline phosphatase concentration, Hyperparathyroidism	OMIM:620366
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Portal fibrosis, Portal inflammation...	OMIM:602347
Porphyria, Congenital Erythropoietic	Jaundice, Loss of eyelashes, Cutaneous photosensitivity, Corneal scarring, Absent eyebrow, Conjun...	OMIM:263700
Desbuquois Syndrome	Abnormal eyelash morphology, Sparse hair	ORPHA:1425
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Hyperopic astigmatism, Fine hair, Astigmatism, Optic nerve hypoplasia	ORPHA:363686
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Premature graying of hair, Increased mean corpuscular volume, Portal hypertension, Thrombocytopen...	OMIM:620367
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Foot osteomyelitis, Acral ulceration, Osteomyelitis	OMIM:162400
Pelvis-Shoulder Dysplasia	Opacification of the corneal stroma, Microphthalmia, Iris coloboma	OMIM:169550
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Seborrheic dermatitis, Acne	OMIM:167100
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Fine hair, Dry skin, Aplasia/Hypoplasia of the eyebrow	ORPHA:2637
Rothmund-Thomson Syndrome	Nail dysplasia, Small nail, Juvenile cataract, Abnormality of the nail, Sparse eyelashes, Sparse ...	ORPHA:2909
Infantile Myofibromatosis	Skin ulcer, Abnormal hair morphology	ORPHA:2591
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Elevated circulating alkaline phosphatase concentration	OMIM:615716
Scarf Syndrome	Webbed neck, Hypoplastic nipples, Low posterior hairline, Cutis laxa, Sparse hair	ORPHA:3134
Subacute Cutaneous Lupus Erythematosus	Hyperkeratosis	ORPHA:163525
Stevens-Johnson Syndrome	Acantholysis, Corneal erosion, Conjunctivitis	ORPHA:36426
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Hearing abnormality, Aplasia/Hypoplasia of the earlobes, Abnormality of the nail, Macrotia, Thick...	ORPHA:1555
Noonan Syndrome 7	Low-set ears, Low posterior hairline, Curly hair, Large earlobe, Thickened helices	OMIM:613706
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Macrotia	ORPHA:457240
Aniridia 1	Corneal neovascularization, Macular agenesis, Aniridia, Corneal erosion, Optic nerve hypoplasia, ...	OMIM:106210
Borjeson-Forssman-Lehmann Syndrome	Cataract, Thick eyebrow, Sparse hair	ORPHA:127
Immunoglobulin A Vasculitis	Purpura, Skin ulcer, Erythema, Arthritis, Skin rash, Episcleritis, Pustule, Orchitis, Infectious ...	ORPHA:761
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Low-set ears, Coarse hair	ORPHA:83617
19P13.13 Microdeletion Syndrome	Macrotia, Optic nerve hypoplasia, Low-set ears, Long eyelashes	ORPHA:357001
Oculodentodigital Dysplasia	Brittle hair, Slow-growing hair, Abnormality iris morphology, Microcornea, Abnormality of the nai...	ORPHA:2710
Adult Polyglucosan Body Disease	Skin ulcer	ORPHA:206583
Malakoplakia	Skin ulcer, Skin rash, Inflammatory abnormality of the skin, Orchitis, Urinary bladder inflammati...	ORPHA:556
Shukla-Vernon Syndrome	Sparse hair	OMIM:301029
Martsolf Syndrome 1	Microphthalmia, Low-set ears, Low posterior hairline, Abnormal toenail morphology, Posteriorly ro...	OMIM:212720
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Microcornea, Cataract	OMIM:610125
Scheie Syndrome	Corneal opacity	OMIM:607016
Teebi-Shaltout Syndrome	Hypoplastic helices, Microphthalmia, Highly arched eyebrow, Small earlobe, Slow-growing hair, Low...	OMIM:272950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Microphthalmia, Optic nerve hypoplasia, Microtia, Corneal opacity, Low-set ears, Megalocornea, At...	OMIM:236670
Immunodeficiency 102	Hepatomegaly, Anemia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Ch...	OMIM:301082
Cardiofaciocutaneous Syndrome 1	Ichthyosis, Slow-growing hair, Hyperkeratosis, Absent eyelashes, Low posterior hairline, Curly ha...	OMIM:115150
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Decreased liver function, Intrahepatic cholestasis, Jaundice, Elevated circulating alkaline phosp...	OMIM:617093
Wrinkly Skin Syndrome	Redundant skin, Low-set ears, Short nail, Fragile nails, Sparse hair, Palmoplantar cutis laxa, Ne...	OMIM:278250
Cahmr Syndrome	Lamellar cataract, Generalized hypertrichosis	OMIM:211770
Triokinase And Fmn Cyclase Deficiency Syndrome	Cataract, Microphthalmia	OMIM:618805
Neu-Laxova Syndrome	Pterygium, Abnormal hair morphology, Abnormal eyelash morphology, Macrotia, Lack of skin elastici...	ORPHA:2671
Toxic Epidermal Necrolysis	Acantholysis, Corneal erosion, Conjunctivitis	ORPHA:537
Stromme Syndrome	Microphthalmia, Optic nerve hypoplasia, Microcornea, Low-set ears, Sclerocornea, Cataract, Peters...	OMIM:243605
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Redundant neck skin, Highly arched eyebrow, Low-set ears, Low posterior hairline, Curly hair, Pos...	OMIM:617360
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Eczematoid dermatitis, Bone marrow hypocellularity, Le...	OMIM:616871
Cardiocranial Syndrome, Pfeiffer Type	Abnormal hair whorl, Sparse hair	ORPHA:2872
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Panniculitis, Dry skin, Eczematoid dermatitis	ORPHA:508542
Pgm3-Cdg	Chronic otitis media, Skin ulcer, Esophagitis, Atopic dermatitis, Eczematoid dermatitis, Chronic ...	ORPHA:443811
Farber Disease	Anemia, Lymphadenopathy, Arthritis, Intrahepatic cholestasis with episodic jaundice, Corneal opac...	ORPHA:333
B4Galt1-Cdg	Redundant neck skin, Hepatomegaly, Inflammatory abnormality of the skin, Splenomegaly	ORPHA:79332
Mandibulofacial Dysostosis With Alopecia	Sparse eyelashes, Alopecia	OMIM:616367
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Petechiae, Blepharitis, Thromb...	ORPHA:158029
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Jaundice, Anemia, Periportal fibrosis, Hepatocellular carci...	ORPHA:64743
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Microhydranencephaly	Macrotia	OMIM:605013
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia, Astigmatism, Scarring alopecia of scalp, Ectopia pupillae, Cataract	OMIM:618727
Calvarial Doughnut Lesions With Bone Fragility	Elevated circulating alkaline phosphatase concentration	OMIM:126550
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Opacification of the corneal stroma	OMIM:601356
Hepatoerythropoietic Porphyria	Loss of eyelashes, Scarring alopecia of scalp, Corneal ulceration, Keratoconjunctivitis, Recurren...	ORPHA:95159
Idiopathic Hypereosinophilic Syndrome	Pancreatitis, Cholangitis, Arthritis, Eczematoid dermatitis, Chronic hepatitis, Inflammatory abno...	ORPHA:3260
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Barth Syndrome	Macrotia, Fair hair	OMIM:302060
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Progeroid facial appearance, Alopecia	ORPHA:412057
Attenuated Chédiak-Higashi Syndrome	Skin ulcer	ORPHA:352723
Wagro Syndrome	Cataract, Corneal opacity, Low-set ears, Aniridia	OMIM:612469
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Premature graying of hair, Hepatomegaly, Pancreatitis, Abnormality of the nail, Reduced subcutane...	ORPHA:280365
Agammaglobulinemia, X-Linked	Recurrent otitis media, Pyoderma, Anemia, Prostatitis, B lymphocytopenia, Hepatocellular carcinom...	OMIM:300755
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Thyroiditis...	OMIM:619375
Renpenning Syndrome 1	Microphthalmia, Brittle hair, Cataract, Hearing impairment, Macrotia, Sparse lateral eyebrow, Spa...	OMIM:309500
Den Hoed-De Boer-Voisin Syndrome	Thick eyebrow, Dry skin, Widow's peak	OMIM:619229
Chondrodysplasia-Difference Of Sex Development Syndrome	Macrotia, Hypoplasia of the iris	ORPHA:1422
Vitreoretinochoroidopathy	Microcornea, Microphthalmia, Developmental cataract, Pulverulent cataract	OMIM:193220
Disabling Pansclerotic Morphea Of Childhood	Skin ulcer	OMIM:620443
Free Sialic Acid Storage Disease	Skin ulcer	ORPHA:834
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome	Hypopituitarism, Alopecia	OMIM:620651
Hypophosphatasia, Adult	Low alkaline phosphatase	OMIM:146300
Septo-Optic Dysplasia Spectrum	Dry skin	ORPHA:3157
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Supernumerary nipple, Alopecia	ORPHA:3224
Familial Cold Autoinflammatory Syndrome 1	Arthritis, Skin rash, Leukocytosis, Urticaria, Conjunctivitis, Uveitis	OMIM:120100
Dyskeratosis Congenita, Autosomal Dominant 1	Premature graying of hair, Nail dystrophy, Ridged nail, Nail pits, Sparse hair, Alopecia	OMIM:127550
Bartsocas-Papas Syndrome 1	Popliteal pterygium, Axillary pterygium, Microphthalmia, Small nail, Pterygium, Alopecia, Absent ...	OMIM:263650
Hermansky-Pudlak Syndrome 2	Chronic oral candidiasis, Absent platelet dense granules, Hepatomegaly, Recurrent otitis media, P...	OMIM:608233
Chromosome 18Q Deletion Syndrome	Sensorineural hearing impairment, Stenosis of the external auditory canal, Hearing impairment, At...	OMIM:601808
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Purpura, Hepatomegaly, Anemia, Petechiae, Vasculitis in the skin, Splenomegaly, Interstitial pneu...	OMIM:620296
Hutchinson-Gilford Progeria Syndrome	Alopecia	OMIM:176670
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Bilateral sensorineural hearing impairment, Rieger anomaly, Macrotia, Primary congenital glaucoma...	ORPHA:521445
Psoriasis-Related Juvenile Idiopathic Arthritis	Iritis, Psoriasiform lesion, Malar rash, Skin rash, Oligoarthritis, Onycholysis, Nail pits, Sacro...	ORPHA:85436
Chand Syndrome	Nail dysplasia, Dry skin, Curly hair	ORPHA:1401
Leukocyte Adhesion Deficiency, Type I	Chronic mucocutaneous candidiasis, Skin ulcer, Osteomyelitis, Periodontitis	OMIM:116920
Marshall Syndrome	Sparse eyelashes, Hypohidrosis, Sparse eyebrow, Ectopia lentis, Sparse hair, Cataract	ORPHA:560
Revesz Syndrome	Nail dystrophy, Megalocornea, Nail pits, Ridged fingernail, Sparse hair, Leukocoria, Fine hair	OMIM:268130
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Nail dystrophy, Facial hirsutism, Hyperkeratosis, Hypoplastic nipples, Sparse scalp hair, Sparse ...	OMIM:604292
H Syndrome	Corneal arcus, Abnormal eyebrow morphology, Facial telangiectasia, Psoriasiform dermatitis, Hyper...	ORPHA:168569
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Nail dystrophy, Keratoconjunctivitis, Cataract, Alopecia universalis, Alopecia	OMIM:240300
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Cutis marmorata, Ectopia lentis, Lens subluxation, Brittle hair	OMIM:236200
Familial Dysautonomia	Corneal erosion, Corneal opacity, Heterochromia iridis, Hypohidrosis, Hyperhidrosis, Abnormal pup...	ORPHA:1764
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Macrotia, Low-set ears	OMIM:300260
Moebius Syndrome	Abnormality of the nail, Abnormal pinna morphology, Microphthalmia	OMIM:157900
Cystinosis	Corneal opacity	ORPHA:213
Ullrich Congenital Muscular Dystrophy 1A	Hyperhidrosis, Follicular hyperkeratosis	OMIM:254090
Hypophosphatemic Rickets, Autosomal Recessive, 2	Elevated circulating alkaline phosphatase concentration	OMIM:613312
Hereditary Spherocytosis	Pallor, Skin ulcer, Maculopapular exanthema, Gout	ORPHA:822
Combined Immunodeficiency Due To Crac Channel Dysfunction	Chronic otitis media, Hepatomegaly, Lymphadenopathy, Hypoplasia of the iris, Anhidrosis, Thromboc...	ORPHA:169090
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:619769
Parenteral Nutrition-Associated Cholestasis	Jaundice, Elevated circulating hepatic transaminase concentration, Elevated circulating alkaline ...	ORPHA:567983
Gm1 Gangliosidosis Type 1	Hearing impairment, Macrotia, Hirsutism, Low-set ears	ORPHA:79255
Keutel Syndrome	Alopecia	ORPHA:85202
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia, Hearing abnormality, Microtia, Cupped ear, Ocular albinism	ORPHA:1352
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Sinusitis, Pur...	OMIM:613179
Dermatosparaxis Ehlers-Danlos Syndrome	Thin skin, Excessive wrinkled skin, Abnormality of subcutaneous fat tissue	ORPHA:1901
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Nail dysplasia, Premature graying of hair, Nail dystrophy, Retinal telangiectasia, Gastrointestin...	OMIM:612199
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type	Macrotia, Thick eyebrow	OMIM:300243
Vitamin D-Dependent Rickets, Type 2A	Secondary hyperparathyroidism, Alopecia universalis, Elevated circulating alkaline phosphatase co...	OMIM:277440
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Perianal abscess, Thrombocytosis, Iron deficiency anemia, Lymphocytosis, Decreased proportion of ...	OMIM:301074
Intermediate Osteopetrosis	Elevated circulating alkaline phosphatase concentration	ORPHA:210110
Cousin Syndrome	Microphthalmia, Facial hirsutism, Stenosis of the external auditory canal, Microcornea, Low-set e...	OMIM:260660
Dominant Beta-Thalassemia	Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concentration, Persistence o...	ORPHA:231226
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Skin rash, Abnormal lymphocyt...	ORPHA:100026
Phelan-Mcdermid Syndrome	Toenail dysplasia, Long eyelashes, Hearing impairment, Macrotia, Thick eyebrow, Hypoplastic toena...	OMIM:606232
Squamous Cell Carcinoma Of The Anal Canal	Skin ulcer	ORPHA:424019
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome	Dry skin, Erythema	OMIM:620510
Tetraamelia-Multiple Malformations Syndrome	Microphthalmia, Microtia, Microcornea, Septo-optic dysplasia, Cataract, Iris coloboma	ORPHA:3301
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia, Abnormal eyelash morphology, Low-set ears, Posteriorly rotated ears	OMIM:206920
T-Cell Immunodeficiency With Thymic Aplasia	Pyoderma, Lymphopenia, T lymphocytopenia, Eczematoid dermatitis, Bronchiectasis, Recurrent pneumo...	OMIM:242700
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Microtia, Low-set ears, Absent toenail, Macrotia, Posteriorly rotated ears	OMIM:620663
Tbck-Related Intellectual Disability Syndrome	Decreased response to growth hormone stimulation test, Hirsutism, Corneal opacity, Eczematoid der...	ORPHA:488632
Hereditary Acrokeratotic Poikiloderma	Nail dystrophy, Dystrophic fingernails, Skin ulcer, Dystrophic toenail, Keratoconjunctivitis, Ecz...	ORPHA:2907
Trichodermodysplasia-Dental Alterations Syndrome	Sparse or absent eyelashes, Brittle hair, Sparse scalp hair, Sparse lateral eyebrow, Aplasia/Hypo...	ORPHA:3353
Shwachman-Diamond Syndrome 1	Anemia, Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Thrombocytopenia, Neut...	OMIM:260400
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Sparse eyebrow, Recurrent otitis media, Dry skin	OMIM:620654
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Chronic oral candidiasis, Hepatomegaly, Recurrent otitis media, Hemo...	OMIM:301078
Down Syndrome	Prematurely aged appearance, Keratoconus, Abnormality of the lymphatic system, Acute megakaryocyt...	ORPHA:870
Scarf Syndrome	Webbed neck, Hypoplastic nipples, Low posterior hairline, Cutis laxa, Low anterior hairline, Spar...	OMIM:312830
Fanconi Anemia, Complementation Group I	Microphthalmia, Astigmatism, Optic nerve hypoplasia, Conductive hearing impairment, Pallor	OMIM:609053
Thanatophoric Dysplasia Type 1	Hearing impairment, Redundant skin, Excessive wrinkled skin	ORPHA:1860
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Hirsutism, Sparse hair	OMIM:618087
Chromosome 18P Deletion Syndrome	Macrotia, Redundant neck skin, Posteriorly rotated ears	OMIM:146390
Fabry Disease	Cornea verticillata, Hyperkeratosis, Corneal dystrophy, Corneal opacity, Hypohidrosis, Conjunctiv...	ORPHA:324
Leigh Syndrome	Sensorineural hearing impairment, Frontal hirsutism, Macrotia, Cataract, Hypertrichosis, Alopecia	ORPHA:506
X-Linked Intellectual Disability Due To Gria3 Mutations	Macrotia, Uplifted earlobe	ORPHA:364028
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Petechiae, Hepatocellular carcinoma, Ascites, Portal hypertension, Ecchymosis, Thro...	OMIM:619463
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Macrotia, Low-set, posteriorly rotated ears	ORPHA:1110
Mucopolysaccharidosis Type 7	Ascites, Corneal opacity, Splenomegaly, Hepatitis	ORPHA:584
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Highly arched eyebrow, Microphthalmia, Low anterior hairline, Low-set ears	ORPHA:404440
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Seborrheic dermatitis, Alopecia	OMIM:210210
Late-Onset Isolated Acth Deficiency	Hashimoto thyroiditis, Hepatitis, Dry skin	ORPHA:199299
Stevenson-Carey Syndrome	Low-set ears, Microphthalmia, Posteriorly rotated ears	OMIM:611961
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Low-set ears, Posteriorly rotated ears, Large fleshy ears	OMIM:616897
Menkes Disease	Hypopigmentation of hair, Dry skin, Woolly hair, Sparse hair, Osteomyelitis	ORPHA:565
Beta-Thalassemia Major	Anisopoikilocytosis, Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concent...	ORPHA:231214
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Cataract, Sensorineural hearing impairment, Microphthalmia, Abnormally large globe	OMIM:615249
Satoyoshi Syndrome	Sparse or absent eyelashes, Abnormal hair morphology, Hypoplasia of the ovary, Abnormality of the...	ORPHA:3130
Thrombocytopenia With Beta-Thalassemia, X-Linked	Petechiae, Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thro...	OMIM:314050
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Parakeratosis, Small nail, Hyperkeratosis, Congenital ichthyosiform erythroderma, Orthokeratosis,...	OMIM:308050
Hydrolethalus	Microphthalmia, Low-set ears, Low-set, posteriorly rotated ears, Anophthalmia	ORPHA:2189
Multicentric Osteolysis, Nodulosis, And Arthropathy	Thickened skin, Peripheral opacification of the cornea, Hirsutism, Corneal opacity	OMIM:259600
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Recurrent aphthous stomatitis, Chronic mucocutaneous candidiasis, Di...	OMIM:614868
Pelvis-Shoulder Dysplasia	Bilateral microphthalmos, Facial hirsutism, Abnormal pinna morphology, Microtia, Microcornea, Iri...	ORPHA:2839
Felty Syndrome	Chronic otitis media, Hepatomegaly, Anemia, Lymphadenopathy, Arthritis, Abnormal lymphocyte morph...	ORPHA:47612
Developmental And Epileptic Encephalopathy 49	Macrotia, Thick eyebrow, Long eyelashes	OMIM:617281
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
Isolated Biliary Atresia	Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Elev...	ORPHA:30391
Goldberg-Shprintzen Syndrome	Corneal erosion, Corneal ulceration, Highly arched eyebrow, Megalocornea, Synophrys, Thick eyebro...	OMIM:609460
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Sparse eyebrow, Developmental cataract, Brittle hair	OMIM:618810
White-Kernohan Syndrome	Recurrent otitis media, Low-set ears, Long eyelashes, Horizontal eyebrow, Macrotia, Synophrys, Th...	OMIM:619426
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Excessive wrinkled skin, Keratoconus, Microcornea, Thin skin, Bruising susceptibility, Poor wound...	OMIM:225400
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Abnormally large globe, Sensorineural hearing impairment, Optic nerve hypoplasia, Hearing impairm...	OMIM:300749
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Nail dysplasia, Hyperkeratosis, Hypoplastic nipples, Sparse scalp hair, Sparse eyelashes, Sparse ...	OMIM:129900
Microphthalmia, Lenz Type	Microphthalmia, Low-set, posteriorly rotated ears, Abnormal pinna morphology, Microcornea, Hearin...	ORPHA:568
Okamoto Syndrome	Redundant neck skin, Astigmatism, Abnormally large globe, Abnormal helix morphology, Low-set ears...	ORPHA:2729
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole...	OMIM:617394
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia, Small nail, Microtia, Low-set ears, Sparse eyebrow, Supernumerary nipple	OMIM:612530
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Breast hypoplasia, Alopecia of scalp, Small pituitary gland, Aplasia of the ovary, Cryptorchidism...	ORPHA:2232
Dermatitis Herpetiformis	Eczematoid dermatitis, Urticaria, Pruritus, Skin vesicle, Microcytic anemia, Erythema	ORPHA:1656
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia, Recurrent otitis media, Low-set ears, Hearing impairment, Posteriorly rotated ears	OMIM:618494
Mycophenolate Mofetil Embryopathy	Microphthalmia, Microtia, Hearing impairment, Atresia of the external auditory canal, Anotia, Hyp...	ORPHA:268249
Schimke Immuno-Osseous Dysplasia	Anemia, Pancreatitis, Abnormal proportion of naive CD4 T cells, Minimal change glomerulonephritis...	ORPHA:1830
Congenital Muscular Dystrophy With Cerebellar Involvement	Microphthalmia, Abnormality iris morphology, Optic nerve hypoplasia, Megalocornea, Cataract	ORPHA:370959
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Macrotia, Low-set ears	ORPHA:562528
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Macrotia	ORPHA:2575
Ectodermal Dysplasia And Immunodeficiency 1	Aplasia of the eccrine sweat glands, Ectodermal dysplasia, Sparse hair	OMIM:300291
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Macrotia, Sparse eyebrow, Hirsutism	ORPHA:496641
Stolerman Neurodevelopmental Syndrome	Macrotia, Hypoplastic nipples	OMIM:618505
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia, Sensorineural hearing impairment, Low-set ears, Cataract, Sclerocornea, Protrudin...	OMIM:614230
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Mediastinal lymphadenopathy, Bronchiectasis, Splenomegaly, Erythema nodosum, Uveitis	OMIM:612387
Kbg Syndrome	Low posterior hairline, Synophrys, Macrotia, Posteriorly rotated ears, Low anterior hairline, Thi...	OMIM:148050
Hallermann-Streiff Syndrome	Microphthalmia, Abnormality of hair texture, Sparse eyelashes, Sparse body hair, Sparse eyebrow, ...	ORPHA:2108
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Elevated circulating alkaline phosphatase concentration, Jaundice, Elevated gamma-glutamyltransfe...	OMIM:613095
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Skin rash, Recurrent bacterial skin infections, Splenomegaly, Neut...	ORPHA:167
Aggressive Systemic Mastocytosis	Decreased liver function, Elevated total serum tryptase, Elevated circulating alkaline phosphatas...	ORPHA:98850
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Macrotia, Optic nerve hypoplasia	OMIM:617864
Chromosome Xq27.3-Q28 Duplication Syndrome	Sparse body hair	OMIM:300869
Reactive Arthritis	Abnormality of the nail, Hyperkeratosis, Dystrophic fingernails, Conjunctivitis	ORPHA:29207
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Macrotia, Overfolded helix	ORPHA:324410
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Decreased testicular size, Cryptorchidism, Patchy alopecia	ORPHA:85279
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Panniculitis, Inflammatory abnormality of the eye, Splenomegaly, Erythema	ORPHA:33577
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia, Low-set, posteriorly rotated ears	ORPHA:3191
Pseudo-Torch Syndrome 1	Jaundice, Hepatomegaly, Petechiae, Thrombocytopenia, Splenomegaly, Cataract, Opacification of the...	OMIM:251290
Xp22.13P22.2 Duplication Syndrome	High anterior hairline, Sparse hair	ORPHA:284180
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Autoimmune hemolytic anemia, Hepatomegaly, Abnormal natural killer cell count, Decreased proporti...	ORPHA:331206
Acrofrontofacionasal Dysostosis 1	Mixed hearing impairment, Microphthalmia, Small nail, Long eyebrows, Iris atrophy, Long eyelashes...	OMIM:201180
Rothmund-Thomson Syndrome Type 1	Nail dysplasia, Sparse or absent eyelashes, Juvenile cataract, Developmental cataract, Sparse hai...	ORPHA:221008
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Macronodular adrenal hyperplasia, Hirsutism, Primary hyperparathyroidism, Pituitary adenoma, Acne...	ORPHA:189427
Ocular Cystinosis	Corneal crystals	ORPHA:411641
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Stomatitis, Hyperkeratosis, Skin rash, Pustule, Neutrophilia, Splenomegaly, Osteomy...	OMIM:612852
Mevalonic Aciduria	Morbilliform rash, Fluctuating splenomegaly, Anemia, Lymphadenopathy, Skin rash, Leukocytosis, No...	OMIM:610377
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	High anterior hairline, Recurrent otitis media, Excessive wrinkled skin, Prematurely aged appeara...	OMIM:619950
Cornelia De Lange Syndrome 6	Highly arched eyebrow, Low-set ears, Synophrys, Macrotia, Sparse eyebrow, Posteriorly rotated ear...	OMIM:620568
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Lymphadenopathy, Discoid lupus rash, Recurrent bacterial skin infect...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Lymphadenopathy, Discoid lupus rash, Recurrent bacterial skin infect...	OMIM:233710
Tolchin-Le Caignec Syndrome	Sensorineural hearing impairment, Abnormal vestibular function, Low-set ears, Hirsutism, Macrotia...	OMIM:618971
Arterial Tortuosity Syndrome	Keratoglobus, Prematurely aged appearance, Keratoconus, Redundant skin, Macrotia, Telangiectasia ...	ORPHA:3342
Lathosterolosis	Bilobate gallbladder, Intrahepatic cholestasis, Elevated circulating alkaline phosphatase concent...	OMIM:607330
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia, Low-set ears	OMIM:300863
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Hyperkeratosis, Pilomatrixoma	OMIM:620189
Bullous Pemphigoid	Eczematoid dermatitis, Urticaria, Pruritus, Psoriasiform dermatitis, Erythema	ORPHA:703
Neuroocular Syndrome	Microphthalmia, Small nail, Highly arched eyebrow, Stellate iris, Brittle hair, Brushfield spots,...	OMIM:619539
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Lens coloboma, Cupped ear	OMIM:618914
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia, Abnormal pinna morphology, Absent tragus, Synophrys, Atresia of the external audi...	OMIM:603457
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Opacification of the corneal stroma	OMIM:215250
Fucosidosis	Petechiae, Thick eyebrow, Dry skin	OMIM:230000
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis...	OMIM:616860
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l...	ORPHA:98849
Intrahepatic Cholestasis Of Pregnancy	Elevated circulating alkaline phosphatase concentration, Abnormal pineal melatonin secretion, Jau...	ORPHA:69665
Livedoid Vasculopathy	Skin ulcer, Macular purpura, Superficial dermal perivascular inflammatory infiltrate, Ecchymosis,...	ORPHA:542643
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Sparse hair	OMIM:620001
Familial Exudative Vitreoretinopathy	Hearing impairment, Microphthalmia, Macular telangiectasia, Cataract	ORPHA:891
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Elevated circulating alkaline phosphatase concentration	ORPHA:52430
Familial Tumoral Calcinosis	Hepatomegaly, Skin rash, Hyperhidrosis, Splenomegaly, Erythema	ORPHA:53715
Norrie Disease	Microphthalmia, Aplasia/Hypoplasia of the lens, Sensorineural hearing impairment, Abnormal helix ...	ORPHA:649
Cold Agglutinin Disease	Hepatomegaly, Lymphadenopathy, Splenomegaly, Pallor, Hemolytic anemia	ORPHA:56425
Helix Syndrome	Dry skin	OMIM:617671
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Fryns Syndrome	Corneal opacity, Microphthalmia, Hypoplastic fingernail, Low-set, posteriorly rotated ears	ORPHA:2059
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Alopecia of scalp, Unilateral microphthalmos, Sparse eyelashes, Sparse eyebrow, Iris coloboma	OMIM:618874
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia, Small nail, Sensorineural hearing impairment, Low-set ears, Corneal opacity, Syno...	OMIM:608670
Atypical Werner Syndrome	Premature graying of hair, Progeroid facial appearance, Skin ulcer, Abnormal hair morphology, Pre...	ORPHA:79474
Galactosialidosis	Conjunctival telangiectasia, Opacification of the corneal stroma	OMIM:256540
Cohen Syndrome	Microphthalmia, Thick hair, Aplasia/Hypoplasia of the earlobes, Sensorineural hearing impairment,...	ORPHA:193
Complete Androgen Insensitivity Syndrome	Absent pubic hair, Testicular neoplasm, Bilateral cryptorchidism, Absent axillary hair, Sparse pu...	ORPHA:99429
Thymoma	Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Leukemia	ORPHA:99867
Mucopolysaccharidosis, Type Vi	Hepatomegaly, Hirsutism, Corneal opacity, Splenomegaly, Pneumonia	OMIM:253200
Xfe Progeroid Syndrome	Cutaneous photosensitivity, Prematurely aged appearance, Dry skin, Corneal scarring, Hearing impa...	OMIM:610965
8P Inverted Duplication/Deletion Syndrome	Macrotia, Frontal balding, Synophrys	ORPHA:96092
Familial Multiple Nevi Flammei	Skin ulcer	ORPHA:624
Joubert Syndrome 14	Low-set ears, Microphthalmia, Posteriorly rotated ears, Highly arched eyebrow	OMIM:614424
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Macrotia	OMIM:620194
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat...	OMIM:266200
Immunodeficiency 59 And Hypoglycemia	High anterior hairline, Hepatomegaly, Recurrent aphthous stomatitis, Arteritis, Decreased proport...	OMIM:233600
Say-Barber-Miller Syndrome	Low-set, posteriorly rotated ears, Highly arched eyebrow, Hirsutism, Macrotia, Sparse eyebrow, Ab...	ORPHA:3132
Holoprosencephaly	Microphthalmia, Anophthalmia, Abnormal antihelix morphology, Highly arched eyebrow, Abnormal pinn...	ORPHA:2162
Developmental And Epileptic Encephalopathy 1	Microphthalmia	OMIM:308350
Xq12-Q13.3 Duplication Syndrome	Cryptorchidism, Low alkaline phosphatase	ORPHA:314389
Microphthalmia With Linear Skin Defects Syndrome	Microphthalmia, Abnormal earlobe morphology, Anophthalmia, Abnormality of the nail, Abnormal eyel...	ORPHA:2556
Heart And Brain Malformation Syndrome	Low-set ears, Attached earlobe, Microphthalmia, Posteriorly rotated ears	OMIM:616920
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Lymphadenopathy, Discoid lupus rash, Recurrent bacterial skin infect...	OMIM:233690
Immunodeficiency 81	Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Petechiae, Ab...	OMIM:619374
Mosaic Trisomy 9	Corneal opacity, Microphthalmia, Low-set ears, Small nail	ORPHA:99776
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent otitis media, Sclerosing cholangitis, Atopic dermatitis, Disseminated molluscum contagi...	OMIM:243700
Mucopolysaccharidosis, Type Ivb	Opacification of the corneal stroma, Corneal opacity	OMIM:253010
Lymphedema-Distichiasis Syndrome	Recurrent corneal erosions, Microphthalmia, Yellow nails, Corneal ulceration, Distichiasis, Conju...	OMIM:153400
Mirizzi Syndrome	Jaundice, Elevated circulating hepatic transaminase concentration, Cholelithiasis, Cholesterol ga...	ORPHA:521219
Holocarboxylase Synthetase Deficiency	Reduced holocarboxylase synthetase activity in cultured fibroblasts, Alopecia	OMIM:253270
Hereditary Cryohydrocytosis With Reduced Stomatin	Cataract, Macrotia, Jaundice, Zonular cataract	ORPHA:168577
Cartilage-Hair Hypoplasia	Low-set, posteriorly rotated ears, Aplasia/Hypoplasia affecting the eye, Macrotia, Sparse eyebrow...	ORPHA:175
Lenz-Majewski Hyperostotic Dwarfism	Sensorineural hearing impairment, Prominent scalp veins, Cutis laxa, Macrotia, Cutis marmorata, S...	OMIM:151050
Nijmegen Breakage Syndrome	Hearing abnormality, Abnormal hair morphology, Cutaneous photosensitivity, Abnormal hair quantity...	ORPHA:647
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Alopecia	OMIM:600142
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Hepatomegaly, Aplasia of...	OMIM:102700
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Premature graying of hair, Hepatomegaly, Hypopigmentation of hair, Heterochromia iridis, Hypohidr...	ORPHA:163746
Fowler Urethral Sphincter Dysfunction Syndrome	Polycystic ovaries, Hirsutism, Abnormality of the ovary, Acne	ORPHA:2795
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Anemia, Arthritis, Skin rash, Palmoplantar pustulosis, Inflammation of the large intestine, Osteo...	ORPHA:324964
De Sanctis-Cacchione Syndrome	Parakeratosis, Keratitis, Conjunctivitis	OMIM:278800
Immunodeficiency 57 With Autoinflammation	Perianal abscess, Gastritis, B lymphocytopenia, Skin rash, T lymphocytopenia, Inflammation of the...	OMIM:618108
Chromosome Xp11.3 Deletion Syndrome	Cataract, Posterior subcapsular cataract, Progeroid facial appearance	OMIM:300578
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Fine hair, Synophrys	OMIM:619428
Dengue Fever	Hepatomegaly, Petechiae, Skin rash, Ascites, Thrombocytopenia, Leukopenia, Bruising susceptibilit...	ORPHA:99828
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia, Hypoplasia of the ear cartilage, Large earlobe, Supernumerary nipple, Iris coloboma	ORPHA:1236
Neuropathy, Hereditary Sensory And Autonomic, Type V	Septic arthritis, Osteoarthritis, Osteomyelitis, Acral ulceration	OMIM:608654
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Erythroderma	OMIM:617425
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Elevated alkaline phosphatase of bone origin	OMIM:167320
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Coloboma, Lens subluxation, Corneal opacity, Ectopia pupillae	ORPHA:85167
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Conj...	OMIM:194380
Fraser Syndrome 1	Bilateral microphthalmos, Abnormal middle ear morphology, Small nail, Anophthalmia, Abnormal pinn...	OMIM:219000
Polyendocrine-Polyneuropathy Syndrome	Decreased testicular size, Anterior pituitary hypoplasia, Alopecia	ORPHA:453533
Chromosome 16P13.3 Duplication Syndrome	Microtia, Hirsutism, Low-set ears, Synophrys, Macrotia, Posteriorly rotated ears, Low anterior ha...	OMIM:613458
Congenital Erythropoietic Porphyria	Loss of eyelashes, Scarring alopecia of scalp, Corneal ulceration, Keratoconjunctivitis, Recurren...	ORPHA:79277
Autosomal Dominant Hypophosphatemic Rickets	Elevated circulating alkaline phosphatase concentration	ORPHA:89937
Joubert Syndrome 22	Microphthalmia	OMIM:615665
Rothmund-Thomson Syndrome Type 2	Nail dysplasia, Sparse or absent eyelashes, Juvenile cataract, Developmental cataract, Sparse hai...	ORPHA:221016
Neuropathy, Hereditary Sensory And Autonomic, Type Viii	Hypohidrosis, Recurrent skin infections, Corneal scarring, Corneal ulceration	OMIM:616488
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Chronic mucocutaneous candidiasis, Atopic dermatitis, Recurrent pneumonia, Lymphopenia, Bronchiec...	OMIM:619752
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Lymphadenopathy, Myositis, Arthritis, Skin rash, Leukocytosis, Erysipelas, Pericarditis, Splenome...	ORPHA:32960
Histiocytosis-Lymphadenopathy Plus Syndrome	Corneal arcus, Decreased response to growth hormone stimulation test, Alopecia of scalp, Hepatome...	OMIM:602782
Cutis Laxa, Autosomal Recessive, Type Iid	Redundant skin, Low-set ears, Cataract, Cutis laxa, Macrotia, Reduced subcutaneous adipose tissue...	OMIM:617403
Cornelia De Lange Syndrome	Low-set, posteriorly rotated ears, Curly eyelashes, Highly arched eyebrow, Sensorineural hearing ...	ORPHA:199
Wolcott-Rallison Syndrome	Lymphocytosis, Iron deficiency anemia, Neutropenia	ORPHA:1667
Holzgreve Syndrome	Macrotia, Low-set, posteriorly rotated ears	ORPHA:2167
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia, Recurrent otitis media, Microtia, Hearing impairment, Abnormality of the outer ear	ORPHA:2728
Cystinosis, Adult Nonnephropathic	Corneal crystals	OMIM:219750
Bethlem Muscular Dystrophy	Hyperkeratosis	ORPHA:610
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron co...	OMIM:615234
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Sparse hair, Hyperconvex nail	OMIM:619721
Degcags Syndrome	Premature graying of hair, Microphthalmia, Unilateral conductive hearing impairment, Hypopigmenta...	OMIM:619488
Ane Syndrome	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:157954
Warburg-Cinotti Syndrome	Corneal neovascularization, Limbal stem cell deficiency, Decreased corneal thickness, Symblepharo...	OMIM:618175
Yao Syndrome	Arthritis, Skin rash, Pericarditis, Inflammatory abnormality of the skin, Keratoconjunctivitis si...	OMIM:617321
Immunodeficiency 68	Abnormal natural killer cell count, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Septic a...	OMIM:612260
Adams-Oliver Syndrome 5	Dystrophic toenail, Absent toenail, Portal vein thrombosis, Splenomegaly, Right ventricular hyper...	OMIM:616028
Ohdo Syndrome, X-Linked	High anterior hairline, Microphthalmia, Stenosis of the external auditory canal, Microtia, Low-se...	OMIM:300895
Cystic Echinococcosis	Jaundice, Elevated circulating hepatic transaminase concentration, Abnormality of the testis size...	ORPHA:400
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Highly arched eyebrow, Hypoplastic nipples, Dry skin, Sparse lateral eyebrow, Sparse hair, Fine hair	OMIM:280000
Transketolase Deficiency	Seborrheic dermatitis, Uveitis, Conjunctivitis	ORPHA:488618
Intellectual Developmental Disorder, Autosomal Dominant 66	Sparse hair	OMIM:619910
Spondylodysplastic Ehlers-Danlos Syndrome	Posterior subcapsular cataract, Low-set, posteriorly rotated ears, Optic nerve hypoplasia, Low-se...	ORPHA:536471
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Woolly hair	OMIM:610193
Axenfeld-Rieger Syndrome, Type 2	Opacification of the corneal stroma, Microcornea, Anterior chamber synechiae	OMIM:601499
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	High anterior hairline, Sensorineural hearing impairment, Low-set ears, Synophrys, Macrotia, Post...	OMIM:619512
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Dry skin	OMIM:619306
Diamond-Blackfan Anemia	Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt...	ORPHA:124
Kanzaki Disease	Hyperkeratosis, Tortuosity of conjunctival vessels	OMIM:609242
Granulomatosis With Polyangiitis	Chronic otitis media, Skin ulcer, Episcleritis, Sinusitis, Keratitis, Conjunctivitis, Uveitis	OMIM:608710
Citrullinemia, Type Ii, Neonatal-Onset	Intrahepatic cholestasis, Elevated circulating alanine aminotransferase concentration, Elevated g...	OMIM:605814
Bdv Syndrome	Macrotia	OMIM:619326
Estrogen Resistance Syndrome	Elevated tissue non-specific alkaline phosphatase, Increased circulating gonadotropin level, Brea...	ORPHA:785
Adrenoleukodystrophy	Alopecia	OMIM:300100
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Highly arched eyebrow, Hyperconvex nail, Elevated circulating alkaline phosphatase concentration,...	OMIM:239300
Intellectual Developmental Disorder, Autosomal Dominant 73	Axillary pterygium, Recurrent otitis media, Highly arched eyebrow, Microtia, Low-set ears, Anteve...	OMIM:620450
Trichohepatoenteric Syndrome 1	Trichorrhexis nodosa, Jaundice, Brittle hair, Microtia, Low-set ears, Woolly hair, Curly hair, Sp...	OMIM:222470
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Macrotia, Sparse eyebrow, Microphthalmia	OMIM:616300
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated circulating alkaline phosphatase concentration, Elevated circulating hepatic transaminas...	OMIM:616026
Mycetoma	Cobblestone-like hyperkeratosis	ORPHA:2583
Hyper-Igd Syndrome	Chronic oral candidiasis, Lymphadenopathy, Arthritis, Skin rash, Leukocytosis, Molluscum contagio...	OMIM:260920
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Mixed hearing impairment, Nail dystrophy, Microphthalmia, Small nail, Microtia, Bilateral conduct...	OMIM:620186
Caroli Disease	Intrahepatic cholestasis, Jaundice, Elevated circulating alkaline phosphatase concentration, Chol...	ORPHA:53035
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Nail dystrophy, Abnormality of the periungual region, Alopecia totalis, Psoriasiform dermatitis, ...	ORPHA:293978
Fanconi-Bickel Syndrome	Elevated circulating alanine aminotransferase concentration, Elevated circulating alkaline phosph...	ORPHA:2088
Mitochondrial Complex I Deficiency, Nuclear Type 33	Sparse hair	OMIM:618253
Autoimmune Hepatitis	Cirrhosis, Jaundice, Sclerosing cholangitis, Acute hepatitis, Spider hemangioma, Fulminant hepati...	ORPHA:2137
Chromosome 17Q12 Duplication Syndrome	Microphthalmia, Peters anomaly	OMIM:614526
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Sparse body hair	ORPHA:2234
Gaucher Disease, Perinatal Lethal	Hyperkeratosis, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:608013
Mosaic Trisomy 1	Microphthalmia, Hypoplastic thumbnail, Small nail, Abnormal pinna morphology, Low-set ears, Opaci...	ORPHA:1692
Acute Adrenal Insufficiency	Dry skin, Sparse axillary hair	ORPHA:95409
Estrogen Resistance	Elevated alkaline phosphatase of bone origin, Polycystic ovaries, Breast aplasia	OMIM:615363
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Elevated circulating alkaline phosphatase concentration, Hypertrichosis	OMIM:618590
Osteogenesis Imperfecta, Type Vi	Elevated circulating alkaline phosphatase concentration	OMIM:613982
Linear Nevus Sebaceus Syndrome	Microphthalmia, Iris coloboma, Alopecia	ORPHA:2612
Hemophagocytic Lymphohistiocytosis, Familial, 2	Jaundice, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Hepatomegaly, Skin rash, Leuko...	OMIM:603553
Peho Syndrome	Macrotia, Abnormal pinna morphology	ORPHA:2836
Alpha-Mannosidosis, Infantile Form	Pneumonia, Astigmatism, Pancytopenia, Highly arched eyebrow, Corneal opacity, Hepatosplenomegaly,...	ORPHA:309282
Monosomy 18Q	Sensorineural hearing impairment, Bilateral conductive hearing impairment, Low anterior hairline,...	ORPHA:1600
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia, Microtia, Microcornea, Low-set ears, Synophrys, Uplifted earlobe, Posteriorly rot...	OMIM:616734
Mucopolysaccharidosis Type 4	Corneal opacity	ORPHA:582
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated circulating alkaline phosphatase concentration, Elevated circulating hepatic transaminas...	ORPHA:263455
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Cutis laxa, Fine hair, Thick eyebrow	OMIM:614800
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Lymphocytosis, Neutropenia in presence of anti-neutropil antibodies,...	ORPHA:3261
Traboulsi Syndrome	Microphthalmia, Spherophakia, Phakodonesis, Iris atrophy, Ectopia lentis, Shallow anterior chambe...	OMIM:601552
Hyperphosphatasia-Intellectual Disability Syndrome	Highly arched eyebrow, Small nail, Elevated circulating alkaline phosphatase concentration, Super...	ORPHA:247262
Oculopalatocerebral Syndrome	Microphthalmia, Leukocoria	OMIM:257910
Spondyloepiphyseal Dysplasia, Maroteaux Type	Opacification of the corneal stroma	OMIM:184095
Immunodeficiency With Hyper-Igm, Type 1	Chronic oral candidiasis, Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Stomatitis, Enterovira...	OMIM:308230
Monosomy 22	Seborrheic dermatitis, Sparse hair, Synophrys	ORPHA:96123
Cerebellofaciodental Syndrome	Cataract, Fine hair, Low-set ears, Sparse eyebrow	OMIM:616202
Giant Cell Arteritis	Pericarditis, Skin ulcer, Arthritis, Alopecia	ORPHA:397
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Microphthalmia, Recurrent otitis media, Corneal opacity, Ectopia pupillae, Lens subluxation	OMIM:608940
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia, Microcornea, Low-set ears, Sparse scalp hair, Sparse eyebrow, Developmental cataract	ORPHA:464738
Cutis Laxa, Autosomal Dominant 1	Prematurely aged appearance, Redundant skin, Cutis laxa, Poor wound healing, Progeroid facial app...	OMIM:123700
Galloway-Mowat Syndrome	Macrotia, Hypoplasia of the ear cartilage	ORPHA:2065
Q Fever	Myocarditis, Purpura, Hepatomegaly, Anemia, Lymphadenopathy, Pneumonia, Pericarditis, Hepatosplen...	ORPHA:781
Short Stature, Microcephaly, And Endocrine Dysfunction	Cataract, Acanthosis nigricans, Sparse hair	OMIM:616541
Alzahrani-Kuwahara Syndrome	Astigmatism, Low-set ears, Dry skin, Hearing impairment, Macrotia, Posteriorly rotated ears, Cata...	OMIM:619268
Dubowitz Syndrome	Microphthalmia, Low-set ears, Sparse scalp hair, Megalocornea, Hypoplasia of the iris, Sparse lat...	OMIM:223370
Alagille Syndrome 1	Abnormal anterior chamber morphology, Band keratopathy, Microcornea, Low-set ears, Axenfeld anoma...	OMIM:118450
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Chronic otitis media, Scaling skin, High anterior hairline, Medial flaring of the eyebrow, Recurr...	OMIM:619503
Diffuse Cutaneous Systemic Sclerosis	Arthritis, Skin ulcer	ORPHA:220393
Peroxisome Biogenesis Disorder 2A (Zellweger)	Jaundice, Hepatomegaly, Intrahepatic biliary dysgenesis, Hypoplasia of the thymus, Brushfield spo...	OMIM:214110
Kabuki Syndrome	Highly arched eyebrow, Sensorineural hearing impairment, Microcornea, Long eyelashes, Sparse late...	ORPHA:2322
Dyrk1A-Related Intellectual Disability Syndrome	Breast hypoplasia, Astigmatism, Corneal opacity, Macrotia, Protruding ear	ORPHA:464306
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia...	OMIM:235700
Hawkinsinuria	Sparse hair	OMIM:140350
Trichorhinophalangeal Syndrome, Type Ii	Alopecia of scalp, Recurrent otitis media, Astigmatism, Low-set ears, Sparse scalp hair, Dry skin...	OMIM:150230
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia, Shallow anterior chamber	OMIM:305390
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Cataract, Microphthalmia	ORPHA:163649
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Panniculitis, Lymphadenopathy, Increased proportion of CD4-positive T cells, Skin rash, Leukocyto...	OMIM:617099
Wiskott-Aldrich Syndrome	Chronic otitis media, Spontaneous hematomas, Sinusitis, Abnormal platelet morphology, Lymphopenia...	ORPHA:906
Specific Granule Deficiency 1	Low neutrophil alkaline phosphatase	OMIM:245480
Matthew-Wood Syndrome	Microphthalmia, Low-set ears, Anophthalmia	ORPHA:2470
2Q31.1 Microdeletion Syndrome	Microphthalmia, Abnormal hair morphology, Low-set ears, Synophrys, Low anterior hairline, Hypopla...	ORPHA:251014
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Distal Duplication 5Q	Macrotia, Low-set ears	ORPHA:96097
2P15P16.1 Microdeletion Syndrome	Optic nerve hypoplasia, Low-set ears, Long eyelashes, Hearing impairment, Sparse eyebrow, Protrud...	ORPHA:261349
Witteveen-Kolk Syndrome	High anterior hairline, Medial flaring of the eyebrow, Iris coloboma, Microphthalmia, Sensorineur...	OMIM:613406
Histiocytoid Cardiomyopathy	Microphthalmia, Corneal opacity, Megalocornea, Congenital aphakia, Pallor, Cyanosis	ORPHA:137675
Holoprosencephaly 7	Bilateral microphthalmos, Microphthalmia, Synophrys, Macrotia, Iris coloboma	OMIM:610828
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Calcification of the auricular cartilage, Synophrys, Conductive hearing impairment, Macrotia, Ano...	ORPHA:3042
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Microphthalmia, Low-set, posteriorly rotated ears, Sparse eyelashes, Conductive hearing impairmen...	ORPHA:306542
Cartilage-Hair Hypoplasia	Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse facial hair, Fine hair, Fair hair	OMIM:250250
Apolipoprotein A-I Deficiency	Opacification of the corneal stroma	ORPHA:425
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy, Maculopapular exanthema, Cutaneous photosensitivity, P...	ORPHA:324625
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Paronychia, Acral ulceration	OMIM:201300
Systemic Sclerosis	Myocarditis, Nail bed telangiectasia, Acral ulceration, Arthritis, Digital ulcer, Pericarditis, P...	ORPHA:90291
Aicardi-Goutières Syndrome	Panniculitis, Myositis, Arthritis, Chilblains, Dry skin	ORPHA:51
Encephalocraniocutaneous Lipomatosis	Abnormal eyelash morphology, Iris coloboma, Corneal opacity, Alopecia	ORPHA:2396
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Elevated circulating alkaline phosphatase concentration	OMIM:600081
Monosomy 9P	Microphthalmia, Thin nail, Abnormal antihelix morphology, Highly arched eyebrow, Microtia, Low-se...	ORPHA:261112
Vacterl With Hydrocephalus	Microphthalmia, Anophthalmia, Microcornea, Microtia, third degree, Anotia, Abnormality of the out...	ORPHA:3412
Isolated Thyroid-Stimulating Hormone Deficiency	Dry skin	ORPHA:90674
Melkersson-Rosenthal Syndrome	Cheilitis, Inflammatory abnormality of the skin, Lymphadenopathy	ORPHA:2483
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Microphthalmia, Optic nerve hypoplasia, Microtia, Low-set ears, Cataract, Peters anomaly	OMIM:614643
Oculocerebrorenal Syndrome Of Lowe	Chronic otitis media, Microphthalmia, Skin ulcer, Low-set, posteriorly rotated ears, Corneal opac...	ORPHA:534
Peroxisome Biogenesis Disorder 5A (Zellweger)	Jaundice, Small nail, Hypoplastic nipples, Elevated circulating alanine aminotransferase concentr...	OMIM:614866
Glycogen Storage Disease Xii	Normocytic anemia, Jaundice, Anemia, Decreased erythrocyte fructose-1,6-bisphosphate aldolase act...	OMIM:611881
Noonan Syndrome 2	Anterior polar cataract, Hyperkeratosis, Low posterior hairline, Curly hair, Sparse eyebrow	OMIM:605275
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Macrotia	OMIM:300486
Myelofibrosis	Purpura, Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Pallor, Extra...	OMIM:254450
Scalp-Ear-Nipple Syndrome	Breast aplasia, Hypohidrosis, Abnormal fingernail morphology, Sparse hair, Cataract	ORPHA:2036
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Panniculitis, Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly	OMIM:618398
Fanconi-Bickel Syndrome	Intrahepatic cholestasis, Elevated circulating alanine aminotransferase concentration, Elevated g...	OMIM:227810
Ataxia-Telangiectasia-Like Disorder 2	Cutaneous telangiectasia, Cutaneous photosensitivity, Sensorineural hearing impairment, Conjuncti...	OMIM:615919
Developmental And Epileptic Encephalopathy 95	Highly arched eyebrow, Cryptorchidism, Elevated circulating alkaline phosphatase concentration, L...	OMIM:618143
Bietti Crystalline Corneoretinal Dystrophy	Marginal corneal dystrophy, Corneal crystals	OMIM:210370
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Low-set ears, Macrotia, Sparse eyebrow, Posteriorly rotated ears	OMIM:617011
Asparagine Synthetase Deficiency	Macrotia, Optic nerve hypoplasia, Simple ear	OMIM:615574
Addison Disease	Hashimoto thyroiditis, Dry skin, Sparse axillary hair	ORPHA:85138
Fanconi Renotubular Syndrome 1	Elevated circulating alkaline phosphatase concentration	OMIM:134600
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Lymphadenopathy, Discoid lupus rash, Recurrent bacterial skin infect...	OMIM:306400
Dyskeratosis Congenita, Digenic	Sparse eyelashes, Nail dystrophy, Alopecia	OMIM:620040
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Trichiasis, Nail dystrophy, Corneal erosion, Conjunctival hyperemia, Chemosis, Keratitis, Anonych...	ORPHA:95455
Lead Poisoning	Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Anemia	ORPHA:330015
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Campomelia, Cumming Type	Prematurely aged appearance, Aplasia/Hypoplasia affecting the eye	ORPHA:1318
Congenital Disorder Of Glycosylation, Type Iiaa	Elevated circulating alkaline phosphatase concentration, Hepatic failure, Elevated circulating as...	OMIM:620454
Hypophosphatasia, Infantile	Low alkaline phosphatase	OMIM:241500
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Secondary hyperparathyroidism, Elevated circulating alkaline phosphatase concentration	OMIM:264700
Cohen-Gibson Syndrome	Long ear, Thin nail, Small nail, Low-set ears, Macrotia, Cataract	OMIM:617561
Neutral Lipid Storage Disease With Ichthyosis	Subcapsular cataract, Alopecia	ORPHA:98907
Giant Axonal Neuropathy 1, Autosomal Recessive	Curly hair	OMIM:256850
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Foot osteomyelitis, Acral ulceration	OMIM:256840
Mucolipidosis Iii Alpha/Beta	Thickened skin, Opacification of the corneal stroma, Hyperopic astigmatism	OMIM:252600
Osteopetrosis, Autosomal Recessive 1	Increased circulating lactate dehydrogenase concentration, Elevated circulating alkaline phosphat...	OMIM:259700
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphocytosis, Thrombocytopenia, Decreased mean platelet volume	OMIM:617718
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Macrotia, Recurrent otitis media	ORPHA:449291
Curry-Jones Syndrome	High anterior hairline, Hirsutism, Microphthalmia, Iris coloboma	OMIM:601707
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Cutis laxa, Dermal translucency, Sparse hair	OMIM:615349
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Skin ulcer, Anemia, Cholelithiasis, Pancytopenia, Bacterial endocarditis, Corneal opacity, Hepati...	ORPHA:2072
Catastrophic Antiphospholipid Syndrome	Myocarditis, Arthritis, Skin ulcer	ORPHA:464343
Cushing Disease	Purpura, Skin ulcer, Decreased eosinophil count, Hirsutism, Lymphopenia, Sparse scalp hair, Leuko...	ORPHA:96253
Isolated Anencephaly	Thymus hyperplasia	ORPHA:563609
Mogs-Cdg	Alopecia, Hirsutism, Long eyelashes, Fair hair, Hydrocele testis	ORPHA:79330
Genitopatellar Syndrome	Hearing impairment, Fine hair, Low-set ears, Sparse scalp hair	ORPHA:85201
Microphthalmia, Syndromic 6	Microphthalmia, Anophthalmia, Microcornea, Low-set ears, Hearing impairment, Macrotia, Uplifted e...	OMIM:607932
Bannayan-Riley-Ruvalcaba Syndrome	Subcutaneous hemorrhage, Macrotia, Cutis marmorata, Telangiectasia	ORPHA:109
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Hypoplastic fingernail, Elevated circulating alkaline phosphatase concentration	OMIM:614749
Developmental And Epileptic Encephalopathy 80	Elevated circulating alkaline phosphatase concentration, Small nail	OMIM:618580
Noonan Syndrome With Multiple Lentigines	Sensorineural hearing impairment, Excessive wrinkled skin, Low-set, posteriorly rotated ears, Sev...	ORPHA:500
Immunodeficiency 31C	Autoimmune hemolytic anemia, Chronic oral candidiasis, Hepatomegaly, Impaired lymphocyte transfor...	OMIM:614162
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Low-set ears, Posteriorly rotated ears, Large fleshy ears, Overfolded helix, Cupped ear	OMIM:614080
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Johanson-Blizzard Syndrome	Abnormal hair pattern, Alopecia	ORPHA:2315
Vexas Syndrome	Nasal chondritis, Macrocytic anemia, Arteritis, Arthritis, Thrombocytopenia, Inflammatory abnorma...	OMIM:301054
Congenital Disorder Of Glycosylation, Type Ia	Abnormal subcutaneous fat tissue distribution, Macrotia	OMIM:212065
Gaisböck Syndrome	Increased hematocrit, Increased red blood cell count, Elevated plasma cell count, Increased mean ...	ORPHA:90041
Familial Thrombocytosis	Acute myeloid leukemia, Hyperhidrosis, Splenomegaly, Chronic myelogenous leukemia, Thrombocytosis...	ORPHA:71493
White-Sutton Syndrome	Astigmatism, Sparse hair, Iris coloboma	OMIM:616364
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome	Macrotia, Thick eyebrow	ORPHA:457212
Refractory Celiac Disease	Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Increased proportion of HLA DR+ T c...	ORPHA:398063
Koolen-De Vries Syndrome Due To A Point Mutation	Recurrent otitis media, Ectodermal dysplasia, Hearing impairment, Macrotia, Developmental catarac...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Recurrent otitis media, Ectodermal dysplasia, Hearing impairment, Macrotia, Developmental catarac...	ORPHA:363958
Kawasaki Disease	Abnormality of nail color, Myocarditis, Cheilitis, Jaundice, Arthritis, Skin rash, Leukocytosis, ...	ORPHA:2331
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Low-set ears, Microphthalmia, Posteriorly rotated ears	OMIM:241410
Bloom Syndrome	Cheilitis, Acute myeloid leukemia, Recurrent tonsillitis, Cutaneous photosensitivity, Abnormal pr...	ORPHA:125
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Nail dysplasia, Fine hair, Sparse hair, Aplasia/Hypoplasia of the eyebrow	OMIM:614091
Good Syndrome	Mediastinal lymphadenopathy, Anemia, Abnormal leukocyte morphology, Bronchiectasis, Sinusitis, Th...	ORPHA:169105
Smith-Kingsmore Syndrome	Curly hair	OMIM:616638
Proboscis Lateralis	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Microcornea, Corneal opacity, Abnormal eyeb...	ORPHA:141099
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Microcornea, Follicular hyperkeratosis	OMIM:614557
Treacher-Collins Syndrome	Microphthalmia, Iris coloboma, Abnormal hair morphology, Microtia, Absent eyelashes, Abnormality ...	ORPHA:861
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Hepatomegaly, Minimal change glomerulonephritis, Myositis, Leukocyto...	OMIM:620565
Wrinkly Skin Syndrome	Excessive wrinkled skin, Excessive skin wrinkling on dorsum of hands and fingers, Prominent veins...	ORPHA:2834
Hypocalcemic Vitamin D-Resistant Rickets	Hyperparathyroidism, Alopecia	ORPHA:93160
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Microphthalmia	OMIM:614833
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Perianal abscess, Hepatomegaly, Panniculitis, Anemia, Erythroid hypoplasia, Hypoplasia of the thy...	OMIM:612541
Hermansky-Pudlak Syndrome 9	Recurrent skin infections, Thrombocytopenia, Leukopenia, Ocular albinism	OMIM:614171
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Hypoplastic fingernail, Microtia, Synophrys, Prominent superior crus of antihelix, Large fleshy e...	ORPHA:280633
Glass Syndrome	Nail dysplasia, Thin skin, Sparse hair, Long eyelashes	OMIM:612313
Momo Syndrome	Cutis marmorata, Bilateral microphthalmos, Underfolded helix, Hyperconvex nail	ORPHA:2563
Kaufman Oculocerebrofacial Syndrome	Astigmatism, Microcornea, Thin skin, Sparse eyebrow, Sparse hair	OMIM:244450
Hamamy Syndrome	Abnormal number of hair whorls, Neck pterygia, Low posterior hairline, Sparse eyelashes, Sparse l...	OMIM:611174
Lenz-Majewski Hyperostotic Dwarfism	Hypoplastic fingernail, Hyperconvex fingernails, Prematurely aged appearance, Redundant skin, Mac...	ORPHA:2658
Scleromyxedema	Generalized abnormality of skin, Aged leonine appearance, Pruritus	ORPHA:167635
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Elevated circulating alkaline phosphatase concentration	OMIM:241530
Woodhouse-Sakati Syndrome	Sensorineural hearing impairment, Hearing impairment, Sparse hair, Protruding ear, Fine hair, Alo...	OMIM:241080
Brucellosis	Pericarditis, Hyperhidrosis, Leukopenia, Splenomegaly, Anterior uveitis, Myocarditis, Pneumonia, ...	ORPHA:1304
Osteogenesis Imperfecta, Type Xi	Elevated circulating alkaline phosphatase concentration	OMIM:610968
T-Cell Immunodeficiency With Thymic Aplasia	Chronic otitis media, Chronic oral candidiasis, Lymphadenopathy, Thyroiditis, Decreased proportio...	ORPHA:83471
Mucopolysaccharidosis Type 6	Chronic otitis media, Opacification of the corneal stroma, Sinusitis, Splenomegaly	ORPHA:583
Microphthalmia, Syndromic 3	Microphthalmia, Anophthalmia, Sensorineural hearing impairment, Optic nerve hypoplasia, Bilateral...	OMIM:206900
Wild Type Attr Amyloidosis	Elevated circulating alkaline phosphatase concentration	ORPHA:330001
Neurocardiofaciodigital Syndrome	Hearing impairment, Sparse eyebrow, Sclerocornea, Sparse hair, Cataract	OMIM:619869
Fraser Syndrome 2	Atresia of the external auditory canal, Microphthalmia, Low anterior hairline, Low-set ears	OMIM:617666
Trisomy 18	Microphthalmia, Low-set, posteriorly rotated ears, Microcornea, Pointed helix, Abnormal toenail m...	ORPHA:3380
Saul-Wilson Syndrome	Sensorineural hearing impairment, Hearing impairment, Cataract, Prominent superficial veins, Prog...	OMIM:618150
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Mixed hearing impairment, Low-set, posteriorly rotated ears, Facial hirsutism, Thick hair, Highly...	ORPHA:444077
Aredyld Syndrome	Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:1133
Granulomatosis With Polyangiitis	Chronic otitis media, Purpura, Prostatitis, Pancreatitis, Skin ulcer, Inflammatory abnormality of...	ORPHA:900
Branchiooculofacial Syndrome	Premature graying of hair, Microphthalmia, Hypoplastic fingernail, Anophthalmia, Sensorineural he...	OMIM:113620
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Seborrheic dermatitis, Thick eyebrow, Eczematoid dermatitis	ORPHA:369950
Ring Chromosome 12 Syndrome	Breast hypoplasia, Hirsutism, Dystrophic toenail, Acne, Cryptorchidism	ORPHA:1439
Lymphedema-Distichiasis Syndrome	Corneal erosion, Distichiasis, Conjunctivitis, Cataract, Recurrent skin infections, Tubulointerst...	ORPHA:33001
Ritscher-Schinzel Syndrome 3	Highly arched eyebrow, Microphthalmia	OMIM:619135
Cerebellar-Facial-Dental Syndrome	Low-set ears, Sparse eyebrow, Sparse hair, Cataract, Fine hair	ORPHA:444072
Cerebrooculofacioskeletal Syndrome 4	Low-set ears, Bilateral microphthalmos, Posteriorly rotated ears	OMIM:610758
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Abnormality of hair texture, Developmental cataract	ORPHA:79351
Thakker-Donnai Syndrome	Macrotia, Posteriorly rotated ears	ORPHA:1780
Seckel Syndrome 2	Microphthalmia	OMIM:606744
Lysinuric Protein Intolerance	Hepatomegaly, Anemia, Hemophagocytosis, Pancreatitis, Cutis laxa, Leukopenia, Splenomegaly, Spars...	OMIM:222700
Dyskeratosis Congenita, X-Linked	Premature graying of hair, Nail dystrophy, Ridged nail, Pterygium, Sparse eyelashes, Conjunctivit...	OMIM:305000
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Elevated circulating alkaline phosphatase concentration, Hypoplastic fifth fingernail	OMIM:614207
Monosomy 13Q14	Microphthalmia, Low-set ears, Cataract, Protruding ear, Thickened helices, Iris coloboma	ORPHA:1587
S-Adenosylhomocysteine Hydrolase Deficiency	Abnormality of hair texture	ORPHA:88618
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Astigmatism, Brittle hair	OMIM:619184
Moebius Syndrome	Corneal opacity, Breast aplasia	ORPHA:570
Leprechaunism	Acanthosis nigricans, Hyperkeratosis, Thickened skin, Facial hypertrichosis, Hypertrichosis	ORPHA:508
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Macrotia, Pallor, Low-set ears	OMIM:277400
Jacobsen Syndrome	Microphthalmia, Abnormal eyelash morphology, Microcornea, Low-set ears, Macular hypoplasia, Iris ...	OMIM:147791
Lipodystrophy, Congenital Generalized, Type 1	Reduced subcutaneous adipose tissue, Macrotia, Hirsutism	OMIM:608594
Neu-Laxova Syndrome 1	Microphthalmia, Pterygium, Absent eyelashes, Low-set ears, Macrotia, Yellow subcutaneous tissue c...	OMIM:256520
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Abnormality of hair texture, Epidermal thickening, Synophrys, Thickened skin, Orthokeratotic hype...	ORPHA:73223
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cataract, Buphthalmos, Microphthalmia	OMIM:616538
Coccidioidomycosis	Morbilliform rash, Pneumonia, Panniculitis, Mediastinal lymphadenopathy, Lymphadenopathy, Pancrea...	ORPHA:228123
Celiac Disease, Susceptibility To, 1	Elevated circulating hepatic transaminase concentration, Alopecia	OMIM:212750
Tafro Syndrome	Increased circulating lactate dehydrogenase concentration, Elevated circulating alkaline phosphat...	ORPHA:457077
Paget Disease Of Bone 2, Early-Onset	Elevated circulating alkaline phosphatase concentration	OMIM:602080
Relapsing Polychondritis	Purpura, Keratitis, Conjunctivitis, Cataract, Erythema, Alopecia	ORPHA:728
Thyroid Ectopia	Dry skin	ORPHA:95712
Metaphyseal Chondrodysplasia, Jansen Type	Hypoparathyroidism, Elevated circulating alkaline phosphatase concentration	OMIM:156400
Bainbridge-Ropers Syndrome	Highly arched eyebrow, Hirsutism, Synophrys, Long eyelashes, Thick eyebrow, Thin eyebrow, Sparse ...	OMIM:615485
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Opacification of the corneal stroma	OMIM:313400
Chromosome 15Q11.2 Deletion Syndrome	Macrotia	OMIM:615656
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Curly hair	OMIM:300986
Mosaic Variegated Aneuploidy Syndrome	Microphthalmia, Low-set, posteriorly rotated ears, Corneal opacity, Hearing impairment, Cataract	ORPHA:1052
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Alg9-Cdg	Low-set, posteriorly rotated ears, Hypoplastic nipples, Low-set ears, Low posterior hairline, Lar...	ORPHA:79328
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Hepatomegaly, Recurrent otitis media, Brittle hair, Megalocornea, Sparse eyebrow...	OMIM:252500
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, Brittle hair, B lymphocytopenia, Sideroblastic anemia, Splenomegal...	OMIM:616084
Microcephaly 13, Primary, Autosomal Recessive	Macrotia	OMIM:616051
Hypocalcemic Vitamin D-Dependent Rickets	Secondary hyperparathyroidism, Elevated alkaline phosphatase of bone origin, Elevated circulating...	ORPHA:289157
Autoinflammatory Disease, Systemic, With Vasculitis	Cholestasis, Increased T cell count, Splenomegaly, Cardiomegaly, Jaundice, Congenital hydrocele, ...	OMIM:620376
Osteogenesis Imperfecta, Type Xx	Highly arched eyebrow, Sparse lateral eyebrow, Sparse hair	OMIM:618644
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Curly hair	ORPHA:457485
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Elevated circulating alkaline phosphatase concentration, Hyperparathyroidism	OMIM:211900
Marden-Walker Syndrome	Microphthalmia, Low-set ears	OMIM:248700
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Corneal crystals	OMIM:219900
Diamond-Blackfan Anemia 1	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:105650
Intellectual Developmental Disorder, X-Linked 98	Macrotia	OMIM:300912
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated circulating hepatic transaminase concentration, Abnormal ductus choledochus morphology, ...	ORPHA:562639
Mucolipidosis Iii Gamma	Opacification of the corneal stroma	OMIM:252605
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Sensorineural hearing impairment, Hirsutism, Low-set ears, Anteverted ears, Macrotia, Protruding ear	ORPHA:459070
Myhre Syndrome	Microphthalmia, Microtia, Low-set ears, Hearing impairment, Thick eyebrow, Sparse hair, Cataract,...	OMIM:139210
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Liver abscess, Recurrent otitis media, Cholangitis, Recurrent tonsillitis, Chronic gastritis, Ski...	ORPHA:183675
Combined Immunodeficiency-Enteropathy Spectrum	Nail dystrophy, Alopecia of scalp, Absent eyebrow, Sparse hair, Psoriasiform dermatitis	ORPHA:436252
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microphthalmia, Microtia, Low-set ears, Sparse hair, Cataract	OMIM:620005
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Microphthalmia, Broad eyebrow, Small nail, Sensorineural hearing impairment, Abnormal pinna morph...	OMIM:616975
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Microphthalmia, Persistent pupillary membrane, Cataract, Buphthalmos, Peters anomaly	OMIM:613150
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Anemia, Abnormal hemoglobin	ORPHA:847
Biotinidase Deficiency	Decreased circulating biotinidase concentration, Alopecia	ORPHA:79241
Distal Deletion 19P	Thick eyebrow, Alopecia	ORPHA:96129
Peroxisome Biogenesis Disorder 1A (Zellweger)	Redundant neck skin, Sensorineural hearing impairment, Abnormal helix morphology, Low-set ears, H...	OMIM:214100
Kabuki Syndrome 1	Recurrent otitis media, Highly arched eyebrow, Hirsutism, Low-set ears, Hearing impairment, Macro...	OMIM:147920
Amoebiasis Due To Entamoeba Histolytica	Elevated circulating alkaline phosphatase concentration, Elevated circulating hepatic transaminas...	ORPHA:67
Frontofacionasal Dysplasia	Microphthalmia, Microcornea, Cataract, Absent inner eyelashes, Iris coloboma	OMIM:229400
3P25.3 Microdeletion Syndrome	Sensorineural hearing impairment, Microphthalmia, Abnormality of the outer ear	ORPHA:435638
Lipodystrophy, Congenital Generalized, Type 2	Reduced subcutaneous adipose tissue, Macrotia, Hirsutism	OMIM:269700
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Fine hair, Low-set ears, Sparse hair, Abnormality of the outer ear	ORPHA:251028
Mandibuloacral Dysplasia With Type A Lipodystrophy	Reduced subcutaneous adipose tissue, Sparse scalp hair, Onychogryposis, Alopecia	OMIM:248370
Focal Dermal Hypoplasia	Nail dysplasia, Mixed hearing impairment, Nail dystrophy, Microphthalmia, Aniridia, Ridged nail, ...	OMIM:305600
Nablus Mask-Like Facial Syndrome	Highly arched eyebrow, Absent eyelashes, Hypoplastic nipples, Sparse eyelashes, Sparse eyebrow, L...	OMIM:608156
Familial Mediterranean Fever	Pancreatitis, Lymphadenopathy, Arthritis, Skin rash, Leukocytosis, Ascites, Erysipelas, Pericardi...	ORPHA:342
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Elevated circulating alkaline phosphatase concentration, Elevated gamma-glutamyltransferase level	ORPHA:247691
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Sparse scalp hair, Dry skin, Sparse eyelashes, Sparse eyebrow, Sparse hair, Fine hair	OMIM:210710
Thrombocytopenia-Absent Radius Syndrome	Anemia, Seborrheic dermatitis, Corneal opacity, Leukocytosis, Hepatosplenomegaly, Thrombocytopeni...	OMIM:274000
Immunodeficiency 82 With Systemic Inflammation	Crohn's disease, Skin rash, T lymphocytopenia, Splenomegaly, Reduced natural killer cell count, P...	OMIM:619381
Leukocyte Adhesion Deficiency	Perianal abscess, Nail dystrophy, Severe periodontitis, Sinusitis, Bone marrow hypocellularity, I...	ORPHA:2968
Carpenter Syndrome 1	Sensorineural hearing impairment, Abnormal pinna morphology, Microcornea, Low-set ears, Conductiv...	OMIM:201000
Common Variable Immunodeficiency	Chronic otitis media, Purpura, Pneumonia, Lymphadenopathy, Bronchiectasis, Splenomegaly, Otitis m...	ORPHA:1572
Roberts Syndrome	Microphthalmia, Absent earlobe, Abnormal pinna morphology, Sparse hair, Cataract	ORPHA:3103
Marfanoid-Progeroid-Lipodystrophy Syndrome	Reduced subcutaneous adipose tissue, Ectopia lentis, Bruising susceptibility, Keratoconjunctiviti...	OMIM:616914
Elliptocytosis 1	Jaundice, Elliptocytosis, Splenomegaly, Pallor, Hemolytic anemia	OMIM:611804
Congenital Disorder Of Deglycosylation 1	Anhidrosis, Hyperhidrosis, Corneal opacity, Corneal ulceration	OMIM:615273
Linear Skin Defects With Multiple Congenital Anomalies 1	Microphthalmia, Hearing impairment, Sclerocornea, Cataract, Peters anomaly, Iris coloboma	OMIM:309801
Holoprosencephaly 9	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Underdeveloped tragus, Macrotia, Posteriorl...	OMIM:610829
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Polycystic ovaries, Testicular adrenal rest tumor, Hirsutism, Alopecia	ORPHA:90795
Primary Sclerosing Cholangitis	Neoplasm of the gallbladder, Spider hemangioma, Cholestasis, Ascites, Splenomegaly, Jaundice, Thy...	ORPHA:171
Caroli Syndrome	Intrahepatic cholestasis, Jaundice, Elevated circulating hepatic transaminase concentration, Port...	ORPHA:480520
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Elevated circulating alkaline phosphatase concentration, Jaundice, Elevated circulating hepatic t...	OMIM:617156
Microphthalmia, Syndromic 2	Microphthalmia, Iris coloboma, Anophthalmia, Sensorineural hearing impairment, Microcornea, Antev...	OMIM:300166
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Anemia, Pancytopenia, Arthritis, Skin rash, Chilblains, Atopic dermatitis, Hepatiti...	OMIM:615846
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia, Sclerocornea	OMIM:300952
Chronic Graft Versus Host Disease	Recurrent corneal erosions, Nail dystrophy, Skin ulcer, Erythema, Onycholysis, Skin vesicle, Poor...	ORPHA:99921
Gaucher Disease	Cirrhosis, Hepatomegaly, Anemia, Cholelithiasis, Pancytopenia, Corneal opacity, Splenic infarctio...	ORPHA:355
Craniofrontonasal Syndrome	Breast hypoplasia, Axillary pterygium, Ridged nail, Unilateral breast hypoplasia, Low posterior h...	OMIM:304110
Ring Chromosome 13 Syndrome	Macrotia, Posteriorly rotated ears, Alopecia	ORPHA:96176
Van Den Ende-Gupta Syndrome	Small earlobe, Abnormal eyebrow morphology, Posteriorly rotated ears, Sclerocornea, Protruding ea...	OMIM:600920
Gracile Bone Dysplasia	Microphthalmia, Aniridia	OMIM:602361
Steinfeld Syndrome	Hearing impairment, Abnormal pinna morphology, Microphthalmia, Iris coloboma	OMIM:184705
Atelis Syndrome 2	Protruding ear, Developmental cataract, Microphthalmia, Low-set ears	OMIM:620185
Hypophosphatemic Rickets, X-Linked Dominant	Elevated circulating alkaline phosphatase concentration	OMIM:307800
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia	OMIM:619053
Craniometadiaphyseal Dysplasia	Elevated circulating alkaline phosphatase concentration	OMIM:269300
Mullerian Aplasia And Hyperandrogenism	Hirsutism, Acne	OMIM:158330
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Anemia, Lymphadenopathy, Abnormality of hair texture, Chronic rhinitis, Splenomegal...	ORPHA:667
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Macrotia, Hypoplastic helices, Low-set ears	OMIM:600460
Meckel Syndrome, Type 5	Microphthalmia	OMIM:611561
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Seborrheic dermatitis, Aspiration pneumonia	OMIM:301072
Pierson Syndrome	Posterior lenticonus, Microphthalmia, Hypoplasia of the ciliary body, Microcoria, Hypoplasia of t...	OMIM:609049
Vascular Ehlers-Danlos Syndrome	Excessive wrinkled skin, Aplasia/Hypoplasia of the earlobes, Vertigo, Abnormal eyelash morphology...	ORPHA:286
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Curly hair	ORPHA:85184
Hereditary Sensory And Autonomic Neuropathy Type 4	Dry skin, Recurrent aspiration pneumonia, Septic arthritis, Fasciitis, Aplasia of the sweat gland...	ORPHA:642
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Sparse body hair	ORPHA:3068
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, B lymphocytopenia, Chronic mucocutaneous candidiasis, Neutropenia in...	ORPHA:391487
Chromosome 13Q14 Deletion Syndrome	Microphthalmia, Low-set ears, Anteverted ears, Hearing impairment, Supernumerary nipple, Iris col...	OMIM:613884
Oncogenic Osteomalacia	Elevated circulating alkaline phosphatase concentration	ORPHA:352540
Hennekam Syndrome	Lymphadenopathy, Ascites, Erysipelas, Lymphangioma, Splenomegaly, Sparse axillary hair, Lymphopen...	ORPHA:2136
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:301040
Infantile Systemic Hyalinosis	Skin ulcer	ORPHA:2176
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Astigmatism, Sensorineural hearing impairment, Cataract, Macrotia, Protruding ear	ORPHA:500095
Yunis-Varon Syndrome	Redundant neck skin, Microphthalmia, Bilateral microphthalmos, Abnormal pinna morphology, Low-set...	ORPHA:3472
Amoebiasis Due To Free-Living Amoebae	Unusual skin infection, Skin ulcer, Sinusitis, Pustule, Pneumonia, Infectious encephalitis	ORPHA:68
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Macrotia, Sparse eyebrow, Low-set, posteriorly rotated ears, Broad eyebrow	ORPHA:457359
Fanconi Anemia, Complementation Group E	Hearing impairment, Bruising susceptibility, Anemic pallor, Microphthalmia	OMIM:600901
Glucagonoma	Neoplasm of the pancreas, Increased circulating gonadotropin level, Intrahepatic cholestasis, Nor...	ORPHA:97280
Primary Biliary Cholangitis	Jaundice, Elevated circulating alkaline phosphatase concentration, Portal hypertension, Elevated ...	ORPHA:186
Smith-Lemli-Opitz Syndrome	Low-set, posteriorly rotated ears, Hypopigmentation of hair, Cutaneous photosensitivity, Sensorin...	ORPHA:818
Noonan Syndrome 1	Woolly hair, Dry skin, Low posterior hairline, Synovitis	OMIM:163950
Meckel Syndrome 14	Microphthalmia, Cyanosis, Low-set ears	OMIM:619879
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Astigmatism, Corneal opacity	ORPHA:464311
Hypothyroidism, Congenital, Nongoitrous, 2	Dry skin	OMIM:218700
6Q Terminal Deletion Syndrome	Highly arched eyebrow, Hyperkeratosis, Low anterior hairline	ORPHA:75857
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia, Abnormal pinna morphology, Microtia, Low-set ears, Low posterior hairline	OMIM:617925
Williams Syndrome	Chronic otitis media, Low-set, posteriorly rotated ears, Prematurely aged appearance, Sensorineur...	ORPHA:904
Argininosuccinic Aciduria	Trichorrhexis nodosa, Dry hair, Brittle hair	OMIM:207900
Cat Eye Syndrome	Microphthalmia, Stenosis of the external auditory canal, Low-set ears, Hearing impairment, Iris c...	OMIM:115470
Cowden Syndrome	Palmoplantar keratoderma, Generalized hyperkeratosis, Cataract, Conjunctival hamartoma	ORPHA:201
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Chronic oral candidiasis, Acute otitis media, Impaired lymphocyte transformation with phytohemagg...	ORPHA:35078
Larsen Syndrome	Hearing impairment, Conductive hearing impairment, Short nail, Corneal opacity	OMIM:150250
Meckel Syndrome	Microphthalmia, Low-set, posteriorly rotated ears, Anophthalmia, Microcornea, Sclerocornea, Catar...	ORPHA:564
Wilson Disease	Sunflower cataract, Jaundice, Anemia, Hypoparathyroidism, Portal fibrosis, Cirrhosis, Hepatomegal...	OMIM:277900
Insulin-Resistance Syndrome Type B	Abnormal salivary gland morphology, Skin rash, Hirsutism, Enlarged polycystic ovaries, Biliary ci...	ORPHA:2298
Marshall-Smith Syndrome	Brittle hair, Highly arched eyebrow, Optic nerve hypoplasia, Bilateral conductive hearing impairm...	OMIM:602535
Cranioectodermal Dysplasia 1	Thin nail, Slow-growing hair, Ectodermal dysplasia, Low-set ears, Short nail, Sparse hair, Protru...	OMIM:218330
Kyphoscoliotic Ehlers-Danlos Syndrome	Microcornea, Synophrys, Follicular hyperkeratosis	ORPHA:536545
22Q11.2 Deletion Syndrome	Chronic otitis media, Purpura, Seborrheic dermatitis, Arthritis, Acne	ORPHA:567
Wolf-Hirschhorn Syndrome	Chronic otitis media, High anterior hairline, Low-set, posteriorly rotated ears, Highly arched ey...	ORPHA:280
Intellectual Developmental Disorder, Autosomal Dominant 68	Astigmatism, Sparse hair	OMIM:619934
Trisomy 10P	Low-set ears, Abnormal auditory evoked potentials, Macrotia, Posteriorly rotated ears, Abnormalit...	ORPHA:171929
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:182900
Digeorge Syndrome	Recurrent otitis media, Anemia, Cholelithiasis, Seborrheic dermatitis, Hypoplasia of the thymus, ...	OMIM:188400
Treacher Collins Syndrome 1	Preauricular hair displacement, Bilateral microphthalmos, Microtia, Atresia of the external audit...	OMIM:154500
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos	OMIM:615085
Hyperparathyroidism, Transient Neonatal	Elevated circulating alkaline phosphatase concentration, Ovarian cyst, Hyperparathyroidism	OMIM:618188
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Alopecia totalis, Cholelithiasis	OMIM:618775
Reynolds Syndrome	Jaundice, Palmar telangiectasia, Hepatomegaly, Lip telangiectasia, Cholestasis, Biliary cirrhosis...	OMIM:613471
Proteus Syndrome	Abnormal subcutaneous fat tissue distribution, Enlarged kidney, Generalized hyperkeratosis, Ovari...	ORPHA:744
Al Amyloidosis	Abnormal salivary gland morphology, Elevated circulating alkaline phosphatase concentration	ORPHA:85443
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Redundant skin, Hypoplasia of the thymus, Ascites, Cutis laxa, Recurrent pneumo...	OMIM:613177
Phace Syndrome	Microphthalmia, Optic nerve hypoplasia, Heterochromia iridis, Sclerocornea, Lens coloboma, Catara...	ORPHA:42775
Spherocytosis, Type 2	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia	OMIM:616649
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Corneal neovascularization, Astigmatism, Polycoria, Microphthalmia, Microcornea, Corneal opacity,...	OMIM:175780
Spherocytosis, Type 4	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Crimean-Congo Hemorrhagic Fever	Spontaneous hematomas, Ascites, Hyperhidrosis, Leukopenia, Splenomegaly, Erythema nodosum, Cholec...	ORPHA:99827
Duane-Radial Ray Syndrome	Microphthalmia, Optic disc hypoplasia, Sensorineural hearing impairment, Slit-like opening of the...	OMIM:607323
Severe Generalized Junctional Epidermolysis Bullosa	Nail dystrophy, Abnormality of the nail, Fragile skin, Anonychia, Abnormal cornea morphology, Par...	ORPHA:79404
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja...	OMIM:185000
Fryns Syndrome	Microphthalmia, Facial hirsutism, Small nail, Abnormal helix morphology, Low-set ears, Anonychia,...	OMIM:229850
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Fine hair, White hair	ORPHA:935
Fanconi Anemia, Complementation Group A	Hearing impairment, Bruising susceptibility, Anemic pallor, Microphthalmia	OMIM:227650
Monosomy 9Q22.3	Cataract, Thickened ears, Microphthalmia, Low-set ears	ORPHA:77301
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Microphthalmia	OMIM:617914
Paget Disease Of Bone 5, Juvenile-Onset	Elevated circulating alkaline phosphatase concentration	OMIM:239000
Sapho Syndrome	Arthritis, Skin rash, Synovitis, Palmoplantar pustulosis, Pustule, Inflammation of the large inte...	ORPHA:793
Boudin-Mortier Syndrome	Elevated alkaline phosphatase of bone origin	OMIM:619543
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Low anterior hairline, Dry hair	OMIM:618569
Acro-Renal-Ocular Syndrome	Microphthalmia, Optic disc hypoplasia, Sensorineural hearing impairment, Microcornea, Conductive ...	ORPHA:959
Papillorenal Syndrome	Cataract, Sensorineural hearing impairment, Microphthalmia, Lens luxation	OMIM:120330
Bardet-Biedl Syndrome	Medial flaring of the eyebrow, Astigmatism, Low-set, posteriorly rotated ears, Hearing impairment...	ORPHA:110
Combined Oxidative Phosphorylation Deficiency 58	Elevated circulating alkaline phosphatase concentration	OMIM:620451
Mandibuloacral Dysplasia Progeroid Syndrome	Nail dystrophy, Hepatomegaly, Macrovesicular hepatic steatosis, Left ventricular hypertrophy, Spa...	OMIM:619127
Mucolipidosis Type Ii	Sensorineural hearing impairment, White hair, Conductive hearing impairment, Otitis media, Fine h...	ORPHA:576
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Seborrheic dermatitis, Small nail	OMIM:300868
Cushing Syndrome Due To Ectopic Acth Secretion	Pheochromocytoma, Adrenal hyperplasia, Lymphopenia, Striae distensae, Hirsutism, Pancreatic adeno...	ORPHA:99889
Spondyloepimetaphyseal Dysplasia, Krakow Type	Annular pancreas, Elevated circulating alkaline phosphatase concentration	OMIM:618162
Mucopolysaccharidosis Type 2, Severe Form	Arthritis, Corneal opacity, Enlarged tonsils, Hepatosplenomegaly, Splenomegaly, Increased size of...	ORPHA:217085
Behçet Disease	Pancreatitis, Lymphadenopathy, Recurrent aphthous stomatitis, Myositis, Optic neuritis, Arthritis...	ORPHA:117
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Fine hair, Sparse hair, Brittle hair	OMIM:618891
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Splenomegaly, Cardiomegaly, Opacification of the corneal stroma	OMIM:231005
Microcephaly-Micromelia Syndrome	Microphthalmia, Low-set ears	OMIM:251230
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microphthalmia, Frontal balding, Nuclear pulverulent cataract, Long lower eyelashes, Sutural cata...	OMIM:612474
Chromosome 13Q33-Q34 Deletion Syndrome	Hearing impairment, Microphthalmia, Posteriorly rotated ears	OMIM:619148
Eiken Syndrome	Elevated circulating alkaline phosphatase concentration	OMIM:600002
Igg4-Related Kidney Disease	Enlarged kidney, Sclerosing cholangitis, Pericarditis, Cholecystitis, Urinary bladder inflammatio...	ORPHA:449395
Neurofibromatosis Type 1	Abnormal hair quantity, Pheochromocytoma, Corneal opacity, Heterochromia iridis, Chronic myelogen...	ORPHA:636
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Macrotia, Recurrent otitis media	OMIM:251260
Pseudotrisomy 13 Syndrome	Low-set ears, Microphthalmia, Posteriorly rotated ears	OMIM:264480
Mucopolysaccharidosis Type 2, Attenuated Form	Arthritis, Corneal opacity, Enlarged tonsils, Hepatosplenomegaly, Splenomegaly, Increased size of...	ORPHA:217093
Familial Mediterranean Fever	Hepatomegaly, Crohn's disease, Arthritis, Leukocytosis, Erysipelas, Pericarditis, Neutrophilia, O...	OMIM:249100
Lysosomal Acid Lipase Deficiency	Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Fata...	ORPHA:275761
Renal Cysts And Diabetes Syndrome	Abnormality of alkaline phosphatase level, Pancreatic atrophy, Elevated circulating hepatic trans...	OMIM:137920
Monosomy 22Q13.3	Long eyelashes, Hearing impairment, Macrotia, Thick eyebrow, Hypoplastic toenails	ORPHA:48652
Acromegaly	Synophrys, Macrotia, Abnormal fingernail morphology, Abnormal toenail morphology, Generalized hir...	ORPHA:963
Somatomammotropinoma	Synophrys, Macrotia, Abnormal fingernail morphology, Abnormal toenail morphology, Generalized hir...	ORPHA:314769
Primrose Syndrome	Superiorly displaced ears, Dystrophic fingernails, Sparse scalp hair, Calcification of the auricu...	OMIM:259050
Oculoectodermal Syndrome	Astigmatism, Microcornea, Limbal dermoid, Opacification of the corneal stroma, Supernumerary nipple	OMIM:600268
Primary Hepatic Neuroendocrine Carcinoma	Elevated circulating hepatic transaminase concentration, Elevated alkaline phosphatase of hepatic...	ORPHA:100085
Raine Syndrome	Highly arched eyebrow, Elevated circulating alkaline phosphatase concentration	OMIM:259775
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Decreased liver function, Elevated circulating hepatic transaminase concentration, Brittle hair, ...	OMIM:124000
1Q21.1 Microdeletion Syndrome	Cataract, Sensorineural hearing impairment, Microphthalmia, Iris coloboma	ORPHA:250989
Lymphatic Filariasis	Hyperkeratosis	ORPHA:2035
Autoimmune Polyendocrinopathy Type 4	Alopecia, Hepatitis, Anterior pituitary dysgenesis	ORPHA:227990
Gorham-Stout Disease	Elevated alkaline phosphatase of bone origin	ORPHA:73
Roberts-Sc Phocomelia Syndrome	Microphthalmia, Absent earlobe, Abnormal pinna morphology, Low-set ears, Corneal opacity, Posteri...	OMIM:268300
Fanconi Anemia, Complementation Group F	Conductive hearing impairment, Microtia, Microphthalmia	OMIM:603467
Hemihyperplasia-Multiple Lipomatosis Syndrome	Seborrheic dermatitis	ORPHA:276280
Mucopolysaccharidosis, Type Iva	Opacification of the corneal stroma	OMIM:253000
Adams-Oliver Syndrome 1	Microphthalmia, Small nail, Cutis marmorata, Supernumerary nipple, Alopecia	OMIM:100300
Restrictive Dermopathy	Generalized hyperkeratosis, Sparse or absent eyelashes, Aplasia/Hypoplastia of the eccrine sweat ...	ORPHA:1662
Alstrom Syndrome	Decreased response to growth hormone stimulation test, Elevated circulating hepatic transaminase ...	OMIM:203800
Fibrous Dysplasia Of Bone	Testicular neoplasm, Hyperpituitarism, Ovarian cyst, Elevated circulating growth hormone concentr...	ORPHA:249
X-Linked Intellectual Disability, Armfield Type	Cataract, Macrotia, Long ear	ORPHA:85276
Sarcoidosis	Increased T cell count, Leukopenia, Erythema nodosum, Abnormal conjunctiva morphology, Enlarged l...	ORPHA:797
Isolated Arrhinia	Microtia, Microphthalmia	ORPHA:1134
Meckel Syndrome, Type 2	Microphthalmia	OMIM:603194
Autoimmune Polyendocrinopathy Type 3	Alopecia, Autoimmune hypoparathyroidism, Hepatitis, Anterior pituitary dysgenesis	ORPHA:227982
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Cataract, Microphthalmia, Anophthalmia, Iris coloboma	ORPHA:2250
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Nail dysplasia, Breast hypoplasia, Sparse hair, Small nail	OMIM:614813
Pallister-Hall Syndrome	Nail dysplasia, Microphthalmia, Microtia, Atresia of the external auditory canal, Posteriorly rot...	OMIM:146510
Mucopolysaccharidosis Type 2	Hepatomegaly, Hip osteoarthritis, Corneal opacity, Enlarged tonsils, Splenomegaly	ORPHA:580
Lathosterolosis	Cataract, Opacification of the corneal stroma, Microcornea	ORPHA:46059
Fanconi Anemia, Complementation Group C	Hearing impairment, Bruising susceptibility, Anemic pallor, Microphthalmia	OMIM:227645
Orofaciodigital Syndrome I	Dry hair, Sparse hair, Alopecia	OMIM:311200
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Jaundice, Elevated circulating hepatic transaminase concentration, Increased circulating lactate ...	ORPHA:247598
Viss Syndrome	Exostosis of the external auditory canal, Alopecia, Prominent superficial blood vessels, Hirsutis...	OMIM:619472
Fanconi Anemia, Complementation Group R	Microphthalmia	OMIM:617244
Joubert Syndrome 2	Microphthalmia, Low-set ears	OMIM:608091
Simple Cryoglobulinemia	Purpura, Acral ulceration, Arthritis, Viral hepatitis, Pericarditis, Nephritis, Membranoprolifera...	ORPHA:91139
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Microphthalmia, Optic nerve hypoplasia, Hearing impairment, Hypertrichosis, Iris coloboma	ORPHA:508498
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Low alkaline phosphatase	ORPHA:369837
Senior-Boichis Syndrome	Elevated circulating alkaline phosphatase concentration, Elevated circulating hepatic transaminas...	ORPHA:84081
Colchicine Poisoning	Alopecia	ORPHA:31824
Neuroleptic Malignant Syndrome	Increased circulating lactate dehydrogenase concentration, Elevated circulating alkaline phosphat...	ORPHA:94093
Fanconi Anemia, Complementation Group L	Microtia, Microphthalmia, Low-set ears, Anotia	OMIM:614083
Postinfectious Vasculitis	Gastrointestinal inflammation, Palpable purpura, Bacterial endocarditis, Arthritis, Viral hepatit...	ORPHA:48435
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Microphthalmia, Buphthalmos, Megalocornea, Hypoplasia of the retina, Cataract, Opacification of t...	OMIM:253280
Coffin-Siris Syndrome 1	Astigmatism, Abnormal pinna morphology, Low-set ears, Sparse scalp hair, Long eyelashes, Hearing ...	OMIM:135900
Thauvin-Robinet-Faivre Syndrome	Protruding ear, Sensorineural hearing impairment, Macrotia	OMIM:617107
Fanconi Anemia, Complementation Group D2	Microphthalmia, Anemic pallor, Low-set ears, Hearing impairment, Bruising susceptibility	OMIM:227646
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Cataract, Microphthalmia	OMIM:253800
Galloway-Mowat Syndrome 3	Microphthalmia, Low-set ears	OMIM:617729
Phace Association	Optic nerve hypoplasia, Microphthalmia, Developmental cataract	OMIM:606519
Exercise-Induced Malignant Hyperthermia	Dry skin	ORPHA:466650
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia, Hearing impairment, Atresia of the external auditory canal, Abnormality of the ou...	ORPHA:3186
Meckel Syndrome, Type 4	Microphthalmia	OMIM:611134
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Elevated circulating alkaline phosphatase concentration	OMIM:618548
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia	OMIM:619036
Charge Syndrome	Microphthalmia, Low-set, posteriorly rotated ears, Abnormality of the inner ear, Aplasia/Hypoplas...	ORPHA:138
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Pneumonia, Jaundice, Inflammatory abnormality of the skin, Hepatomegaly	ORPHA:26793
Branchioskeletogenital Syndrome	Mixed hearing impairment, Highly arched eyebrow, Attached earlobe, Periorbital wrinkles, Absent n...	ORPHA:1299
Junctional Epidermolysis Bullosa With Pyloric Atresia	Recurrent skin infections, Nail dystrophy, Urinary bladder inflammation, Pterygium	ORPHA:79403
Mosaic Variegated Aneuploidy Syndrome 2	Sparse hair	OMIM:614114
Costello Syndrome	Redundant neck skin, Thin nail, Low-set ears, Curly hair, Deep-set nails, Fragile nails, Posterio...	OMIM:218040
Generalized Glucocorticoid Resistance Syndrome	Adrenal hyperplasia, Hirsutism, Frontal balding, Acne	ORPHA:786
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Popliteal pterygium, Microphthalmia, Hearing impairment, Antecubital pterygium, Aplasia/Hypoplasi...	OMIM:609945
Congenital Disorder Of Glycosylation, Type Iiw	Elevated circulating hepatic transaminase concentration, Elevated circulating alkaline phosphatas...	OMIM:619525
Microphthalmia With Limb Anomalies	Microphthalmia, True anophthalmia, Low-set, posteriorly rotated ears, Abnormal eyebrow morphology...	ORPHA:1106
Gallbladder Neuroendocrine Tumor	Elevated alkaline phosphatase of hepatic origin, Intermittent jaundice, Elevated gamma-glutamyltr...	ORPHA:100086
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Generalized abnormality of skin, Gastrointestinal inflammation, Nail dystrophy, Anemia, Iron defi...	ORPHA:79408
Hereditary Elliptocytosis	Skin ulcer	ORPHA:288
Acrofacial Dysostosis, Cincinnati Type	Mild hearing impairment, Recurrent otitis media, Pterygium, Microtia, Low-set ears, Hearing impai...	OMIM:616462
Mowat-Wilson Syndrome	Microphthalmia, Recurrent otitis media, Iris coloboma, Broad eyebrow, Microcornea, Cataract, Upli...	OMIM:235730
Liver Disease, Severe Congenital	Nail dystrophy, Lymphocytosis, Ascites, Biliary hyperplasia, Leukopenia, Splenomegaly, Cardiomega...	OMIM:619991
Holoprosencephaly 14	Macrotia, Low-set ears	OMIM:619895
Osteogenesis Imperfecta	Corneal opacity, Cutis laxa, Hyperhidrosis, Thrombocytopenia, Osteoarthritis, Bruising susceptibi...	ORPHA:666
Fraser Syndrome	Microphthalmia, Low-set, posteriorly rotated ears, Anophthalmia, Abnormal pinna morphology, Micro...	ORPHA:2052
Limb Body Wall Complex	Lens subluxation, Corneal opacity, Iris coloboma	ORPHA:2369
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Elevated alkaline phosphatase of bone origin	ORPHA:157215
Distal Deletion 12Q	Small nail, Prominent ear helix, Microtia, Bilateral conductive hearing impairment, Low-set ears,...	ORPHA:96149
Aicardi Syndrome	Protruding ear, Sparse lateral eyebrow, Microphthalmia	ORPHA:50
Mend Syndrome	Low-set ears, Microphthalmia, Abnormal auditory evoked potentials, Cataract	ORPHA:401973
Autosomal Recessive Robinow Syndrome	Fingernail dysplasia, Long eyelashes, Alopecia	ORPHA:1507
Woodhouse-Sakati Syndrome	Scaling skin, Alopecia, Aplasia/Hypoplasia of the eyebrow	ORPHA:3464
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Pancreatitis, Vacuolated lymphocytes, Inflammatory abnormality of the skin, Splenom...	ORPHA:565612
Classical Ehlers-Danlos Syndrome	Prematurely aged appearance, Fragile skin, Ecchymosis, Bruising susceptibility, Acrocyanosis, Abn...	ORPHA:287
Peters Plus Syndrome	Low-set, posteriorly rotated ears, Microcornea, Microtia, second degree, Corneal opacity, Conduct...	ORPHA:709
Autosomal Dominant Robinow Syndrome	Curly eyelashes, Onychogryposis of fingernail, Long eyelashes, Ridged fingernail, Fingernail dysp...	ORPHA:3107
Adrenomyeloneuropathy	Fine hair, Frontal balding	ORPHA:139399
Cerebrotendinous Xanthomatosis	Juvenile cataract, Prolonged neonatal jaundice, Prematurely aged appearance, Abnormal auditory ev...	ORPHA:909
Thrombocytopenia 1	Decreased mean platelet volume, Petechiae, Eczematoid dermatitis, Intermittent thrombocytopenia, ...	OMIM:313900
Charcot-Marie-Tooth Disease Type 4B2	Penetrating foot ulcers	ORPHA:99956
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Iris atrophy, Absent anterior chamber of the eye, Cataract, Phthisis bulbi	OMIM:259770
Parkes Weber Syndrome	Scaling skin, Skin ulcer	ORPHA:90307
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Frontal hirsutism, Optic disc coloboma, Astigmatism, Sparse hair	OMIM:617157
Cranioectodermal Dysplasia 2	Ectodermal dysplasia, Sparse eyelashes, Cutis laxa, Sparse eyebrow, Sparse hair	OMIM:613610
Restrictive Dermopathy 1	Absent eyelashes, Sparse eyelashes, Short nail, Sparse eyebrow, Aplasia/Hypoplasia of the eyebrow...	OMIM:275210
Bartter Syndrome, Type 2, Antenatal	Macrotia, Abnormally large globe	OMIM:241200
Keppen-Lubinsky Syndrome	Lack of facial subcutaneous fat, Abnormally large globe, Progeroid facial appearance	OMIM:614098
Basal Cell Nevus Syndrome 1	Cataract, Microphthalmia, Iris coloboma	OMIM:109400
Normosmic Congenital Hypogonadotropic Hypogonadism	Breast hypoplasia, Sparse body hair	ORPHA:432
Osteopetrosis With Renal Tubular Acidosis	Macrotia, Conductive hearing impairment	ORPHA:2785
Aicardi Syndrome	Sparse lateral eyebrow, Microphthalmia, Cataract	OMIM:304050
Pallister-Killian Syndrome	Stenosis of the external auditory canal, Sparse anterior scalp hair, Low-set ears, Sparse scalp h...	OMIM:601803
Phosphoribosylpyrophosphate Synthetase Superactivity	Sparse hair	OMIM:300661
Townes-Brocks Syndrome 1	Sensorineural hearing impairment, Microtia, Stahl ear, Macrotia, Lop ear, Satyr ear, Overfolding ...	OMIM:107480
Systemic Lupus Erythematosus	Cutaneous photosensitivity, Alopecia	ORPHA:536
Steinert Myotonic Dystrophy	Decreased response to growth hormone stimulation test, Elevated circulating hepatic transaminase ...	ORPHA:273
Fanconi Anemia	Microphthalmia, Hearing abnormality, Astigmatism, Abnormal pinna morphology, Hearing impairment, ...	ORPHA:84
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Developmental cataract	OMIM:127000
Keutel Syndrome	Hearing impairment, Macrotia, Recurrent otitis media, Calcification of the auricular cartilage	OMIM:245150
Adenocarcinoma Of The Anal Canal	Skin ulcer	ORPHA:424016
Yunis-Varon Syndrome	Redundant neck skin, Small earlobe, Microtia, Sensorineural hearing impairment, Low-set ears, Spa...	OMIM:216340
Tetraamelia Syndrome 1	Cataract, Microphthalmia, Low-set ears	OMIM:273395
Turner Syndrome Due To Structural X Chromosome Anomalies	Webbed neck, Hyperconvex fingernails, Neck pterygia, Low posterior hairline, Abnormal fingernail ...	ORPHA:99413
Mosaic Monosomy X	Webbed neck, Hyperconvex fingernails, Neck pterygia, Low posterior hairline, Abnormal fingernail ...	ORPHA:99228
Monosomy X	Webbed neck, Hyperconvex fingernails, Neck pterygia, Low posterior hairline, Abnormal fingernail ...	ORPHA:99226
Turner Syndrome	Webbed neck, Hyperconvex fingernails, Neck pterygia, Low posterior hairline, Abnormal fingernail ...	ORPHA:881
Zttk Syndrome	Broad eyebrow, Low-set ears, Curly hair, Sparse eyebrow, Protruding ear	OMIM:617140
Microphthalmia, Syndromic 9	Bilateral microphthalmos, Low-set ears, Anophthalmia	OMIM:601186
Phakomatosis Pigmentokeratotica	Hyperhidrosis, Patchy alopecia	ORPHA:2874
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Thin eyebrow, Loss of eyelashes, Sparse hair, Alopecia	ORPHA:2636
Alkaptonuria	Hemolytic anemia, Methemoglobinemia	ORPHA:56
Fanconi Anemia, Complementation Group N	Microphthalmia	OMIM:610832
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia, Low-set, posteriorly rotated ears	ORPHA:2166
Chilton-Okur-Chung Neurodevelopmental Syndrome	Highly arched eyebrow, Sparse scalp hair, Synophrys, Sparse lateral eyebrow, Long eyelashes, Spar...	OMIM:619841
Metaphyseal Dysplasia, Braun-Tinschert Type	Elevated alkaline phosphatase of bone origin	ORPHA:85188
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Astigmatism, Low-set, posteriorly rotated ears, Hypoplastic nipples, Low-set ears, Curly hair, He...	ORPHA:480880
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Bilateral microphthalmos, Low-set, posteriorly rotated ears, Optic nerve hypoplasia, Bilateral se...	ORPHA:468631
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Recurrent pneumonia, Dry skin	ORPHA:99646
Charge Syndrome	Mixed hearing impairment, Iris coloboma, Microphthalmia, Anophthalmia, Sensorineural hearing impa...	OMIM:214800
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Hypoplasia of the ovary, Decreased testicular size, Alopecia	OMIM:619321
X-Linked Hypophosphatemia	Elevated circulating alkaline phosphatase concentration	ORPHA:89936
Townes-Brocks Syndrome	Microphthalmia, Abnormal tragus morphology, Abnormal pinna morphology, Microtia, Hearing impairme...	ORPHA:857
African Trypanosomiasis	Iritis, Jaundice, Keratitis, Conjunctivitis, Alopecia	ORPHA:3385
Menke-Hennekam Syndrome 1	Cataract, Thick eyebrow, Sparse hair, Long eyelashes	OMIM:618332
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Sparse body hair, Sparse pubic hair, Sparse axillary hair	ORPHA:90796
Meckel Syndrome, Type 1	Microphthalmia, Low-set ears, Iris coloboma	OMIM:249000
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Osteomyelitis leading to amputation due to slow healing fractures, Acral ulceration	OMIM:256810
Craniofacial Microsomia 1	Microphthalmia, Anophthalmia, Sensorineural hearing impairment, Microtia, Underdeveloped tragus, ...	OMIM:164210
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Broad lateral eyebrow, Optic nerve hypoplasia, Low-set ears, Curly hair, Hearing impairment, Spar...	ORPHA:500150
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Anophthalmia	ORPHA:2538
Lowe Oculocerebrorenal Syndrome	Dense posterior cortical cataract, Microphthalmia, Developmental cataract, Corneal scarring	OMIM:309000
Biliary, Renal, Neurologic, And Skeletal Syndrome	Jaundice, Anterior pituitary hypoplasia, Elevated circulating alanine aminotransferase concentrat...	OMIM:619534
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Nail dysplasia, Sparse hair	OMIM:616682
Microphthalmia, Syndromic 1	Microphthalmia, Recurrent otitis media, Ciliary body coloboma, Anophthalmia, Abnormal pinna morph...	OMIM:309800
Pallister-Hall Syndrome	Nail dysplasia, Microphthalmia, Low-set, posteriorly rotated ears, Auricular tag, Microtia, Atres...	ORPHA:672
Hypomagnesemia 3, Renal	Elevated circulating alkaline phosphatase concentration	OMIM:248250
8Q24.3 Microdeletion Syndrome	Bilateral microphthalmos, Highly arched eyebrow, Optic nerve hypoplasia, Long eyelashes, Thick ey...	ORPHA:508488
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Microphthalmia, Recurrent otitis media, Astigmatism, Broad eyebrow, Highly arched eyebrow, Sensor...	ORPHA:261552
Pontocerebellar Hypoplasia Type 7	Macrotia	ORPHA:284339
Hydrolethalus Syndrome 1	Abnormal pinna morphology, Microphthalmia, Low-set ears	OMIM:236680
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos, Developmental cataract	ORPHA:93325
Mowat-Wilson Syndrome	Microphthalmia, Recurrent otitis media, Astigmatism, Broad eyebrow, Sensorineural hearing impairm...	ORPHA:2152
Spondyloepimetaphyseal Dysplasia, X-Linked	Abnormality of alkaline phosphatase level	OMIM:300106
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Microphthalmia, Recurrent otitis media, Astigmatism, Broad eyebrow, Sensorineural hearing impairm...	ORPHA:261537
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Opacification of the corneal stroma	OMIM:615287
Juvenile Nephropathic Cystinosis	Elevated alkaline phosphatase of bone origin	ORPHA:411634
Autosomal Recessive Hypophosphatemic Rickets	Elevated alkaline phosphatase of bone origin	ORPHA:289176
Pmm2-Cdg	Cataract, Macrotia, Abnormal pinna morphology, Abnormal subcutaneous fat tissue distribution	ORPHA:79318
Holoprosencephaly 2	Microphthalmia, Iris coloboma	OMIM:157170
Holoprosencephaly 1	Microphthalmia	OMIM:236100
Alström Syndrome	Posterior subcapsular cataract, Frontal balding, Abnormal vestibular function, Hirsutism, Otitis ...	ORPHA:64
Generalized Arterial Calcification Of Infancy	Elevated alkaline phosphatase of bone origin, Pancreatic calcification	ORPHA:51608

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 Gsdma3

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 Gsdma3.

No publications found that use IMPC mice or data for Gsdma3.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Gsdma3^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Gsdma3^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	Mice, ES Cells
Gsdma3^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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