Gene Summary

Name:
family with sequence similarity 83, member H
Synonyms:
N/A

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal heart morphology Fam83hem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal testis morphology Fam83hem1(IMPC)Ccpcz HOM Early adult 0.00
increased CD4-positive, CD25-positive, alpha-beta regulatory T cell number Fam83hem1(IMPC)Ccpcz HOM   Early adult 2.22×10-08
abnormal sinus arrhythmia Fam83hem1(IMPC)Ccpcz HOM   Early adult 1.12×10-05
abnormal gallbladder morphology Fam83hem1(IMPC)Ccpcz HET Early adult 0.00
abnormal mammary gland morphology Fam83hem1(IMPC)Ccpcz HOM Early adult 0.00
no spontaneous movement Fam83hem1(IMPC)Ccpcz HOM E18.5 0.00
abnormal seminal vesicle morphology Fam83hem1(IMPC)Ccpcz HET Early adult 0.00
small testis Fam83hem1(IMPC)Ccpcz HOM Early adult 0.00
hypoactivity Fam83hem1(IMPC)Ccpcz HOM   Early adult 6.81×10-06
abnormal coat/ hair morphology Fam83hem1(IMPC)Ccpcz HOM Early adult 7.19×10-06
small heart Fam83hem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal coat appearance Fam83hem1(IMPC)Ccpcz HOM Early adult 7.32×10-22
abnormal kidney morphology Fam83hem1(IMPC)Ccpcz HOM Early adult 0.00
increased freezing behavior Fam83hem1(IMPC)Ccpcz HOM   Early adult 1.00×10-11
decreased exploration in new environment Fam83hem1(IMPC)Ccpcz HOM   Early adult 3.60×10-05
abnormal behavior Fam83hem1(IMPC)Ccpcz HOM Early adult 9.34×10-05

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

23 Images

X-ray

XRay Images Whole Body Dorso Ventral

46 Images

X-ray

XRay Images Forepaw

23 Images

X-ray

XRay Images Skull Lateral Orientation

23 Images

X-ray

XRay Images Hind Leg and Hip

47 Images

X-ray

XRay Images Whole Body Lateral Orientation

23 Images

Human diseases caused by Fam83h 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.

The table below shows human diseases associated to Fam83h by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900

The table below shows human diseases predicted to be associated to Fam83h by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Testicular Torsion
Torsion of appendix of testis, Testicular torsion OMIM:187400
Oculotrichodysplasia
Trichodysplasia, Carious teeth, Generalized hypotrichosis, Agenesis of permanent teeth, Sparse ey... OMIM:257960
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Odonto-Onycho Dysplasia-Alopecia Syndrome
Hypoplastic toenails, Tooth malposition, Sparse hair, Abnormality of dental morphology, Tooth age... ORPHA:2722
Cholangiocarcinoma, Susceptibility To
Cholangiocarcinoma OMIM:615619
Gingival Fibromatosis-Hypertrichosis Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Hirsutism, Abnormality of the dentition, Ataxia... ORPHA:2026
Witkop Syndrome
Nail pits, Small nail, Sparse hair, Agenesis of permanent teeth, Ridged nail, Concave nail, Micro... OMIM:189500
Hypodontia-Dysplasia Of Nails Syndrome
Delayed eruption of teeth, Abnormality of the nail, Hypoplastic toenails, Agenesis of permanent t... ORPHA:2228
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Sparse eyebrow, Cutis laxa, Absent axillary hair, Scaling skin, Absent pubic hair, Alopecia of sc... ORPHA:2269
Regional Odontodysplasia
Enamel hypoplasia, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Hypoplas... ORPHA:83450
Hypertrichosis Lanuginosa Congenita
Delayed eruption of teeth, Abnormality of the dentition, Thick eyebrow, Gingival overgrowth, Gene... ORPHA:2222
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Sparse hair, Hypodontia OMIM:246500
Hyperbiliverdinemia
Decreased liver function, Cholelithiasis, Cholestasis OMIM:614156
Cerebellar Ataxia And Ectodermal Dysplasia
Sparse hair, Alopecia, Agenesis of permanent teeth, Ataxia OMIM:212835
Gallbladder Disease 1
Elevated hepatic transaminase, Cholesterol gallstones, Cholelithiasis, Hepatic fibrosis, Jaundice... OMIM:600803
Hypotrichosis 1
Sparse eyebrow, Sparse hair, Sparse axillary hair, Sparse pubic hair, Sparse body hair, Sparse ey... OMIM:605389
Tooth Agenesis, Selective, 8
Sparse eyebrow, Sparse hair, Selective tooth agenesis, Microdontia, Dry skin OMIM:617073
Fibromatosis, Gingival, With Distinctive Facies
Gingival fibromatosis, Everted lower lip vermilion, Thick vermilion border, Persistence of primar... OMIM:228560
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Abnormal biliary tract morphology, Cholelithiasis ORPHA:438274
Protoporphyria, Erythropoietic, X-Linked
Elevated hepatic transaminase, Cholelithiasis OMIM:300752
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Abnormality of dental morphology, Everted lower... ORPHA:2025
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of dental color, Hypopl... ORPHA:1028
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Poliosis, Ataxia, Patchy alopecia, Short mandibular rami, Dental maloc... OMIM:141300
Hypotrichosis Simplex
Sparse hair, Sparse scalp hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Sparse eyela... ORPHA:55654
Hypotrichosis 4
Sparse hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Pili torti, Sparse eyelashes OMIM:146550
Biliary Atresia, Extrahepatic
Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahepatic biliary duct atresia,... OMIM:210500
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormality of dental morphology, Hypodontia, Alveolar process hypopla... ORPHA:2972
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Splenomegaly OMIM:224100
Oligodontia
Enamel hypoplasia, Oligodontia, Agenesis of maxillary lateral incisor, Hypoplasia of teeth, Oral ... ORPHA:99798
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Sparse hair, Abnormality of dental morphology, Sparse eyelashes, Anodontia, Hypodontia, Nail dysp... OMIM:129490
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Periodontitis, Abnormal eyelash morphology, Abnormality of the dentition, Sparse scalp hair, Alop... ORPHA:1008
X-Linked Hypohidrotic Ectodermal Dysplasia
Delayed eruption of teeth, Sparse hair, Everted lower lip vermilion, Aplasia/Hypoplasia of the ey... ORPHA:181
Amelogenesis Imperfecta
Enamel hypoplasia, Abnormality of dental color, Hypoplasia of teeth, Taurodontia, Multiple unerup... ORPHA:88661
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Delayed eruption of teeth, Short philtrum, Abnormal dental enamel morphology, Hypoplastic toenail... ORPHA:2325
Gingival Fibromatosis-Progressive Deafness Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth ORPHA:2027
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis OMIM:605479
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Pycnodysostosis
Delayed eruption of primary teeth, Carious teeth, Narrow palate, Absent frontal sinuses, Ridged n... OMIM:265800
Catifa Syndrome
Long philtrum, Delayed eruption of teeth, Tooth malposition, Gait disturbance, Cleft lip, Increas... OMIM:618761
Hypotrichosis 11
Sparse hair, Absent axillary hair, Sparse or absent eyelashes, Alopecia, Aplasia/Hypoplasia of th... OMIM:615059
Benign Recurrent Intrahepatic Cholestasis
Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Cholelithiasis, Jaundice, Cho... ORPHA:65682
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Gait disturbance, Ataxia, Hypodontia, Microdontia, Fine hair ORPHA:1174
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Oligodontia, Sparse hair, Taurodontia OMIM:272980
Peeling Skin Syndrome 1
Onycholysis, Scaling skin, Erythema, Brittle hair, Abnormality of hair texture OMIM:270300
Bathing Suit Ichthyosis
Sparse hair, Scaling skin, Epidermal acanthosis, Alopecia, Eclabion, Nail dystrophy ORPHA:100976
Hypotrichosis 7
Woolly hair, Sparse and thin eyebrow, Sparse hair, Sparse eyelashes OMIM:604379
Ectodermal Dysplasia, Trichoodontoonychial Type
Sparse hair, Abnormality of dental morphology, Abnormal eyelash morphology, Hypodontia, Aplasia/H... ORPHA:1818
Coffin-Siris Syndrome 3
Macroglossia, Sparse hair, Hirsutism, Wide mouth, Long eyelashes, Sparse scalp hair, Thick eyebro... OMIM:614608
Hypotrichosis 13
Woolly hair, Sparse and thin eyebrow, Sparse hair OMIM:615896
Dyskeratosis Congenita, Autosomal Recessive 6
Carious teeth, Sparse hair, Ataxia, Alopecia, Nail dystrophy OMIM:616353
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
Trichodental Dysplasia
Sparse hair, Odontodysplasia, Slow-growing hair, Hypodontia, Brittle hair, Conical tooth, Fine hair OMIM:601453
Hypotrichosis 14
Sparse body hair, Sparse hair OMIM:618275
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Palmoplantar scaling skin, Scaling skin, Erythema, Concave nail, Dry skin ORPHA:530838
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Onycholysis, Angular cheilitis, Scaling skin, Leukonychia, Epidermal acanthosis OMIM:616295
Dubin-Johnson Syndrome
Jaundice, Biliary tract abnormality OMIM:237500
Developmental And Epileptic Encephalopathy 25, With Amelogenesis Imperfecta
Amelogenesis imperfecta, Delayed eruption of teeth, Ataxia, Hypodontia OMIM:615905
Hypotrichosis 10
Sparse body hair, Sparse eyebrow, Sparse eyelashes OMIM:614238
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Jaundice, Cholelithiasis, Giant cell hepatitis OMIM:214980
Growth Hormone Insensitivity Syndrome
Delayed eruption of teeth, Abnormality of the mouth, Abnormality of the nail, Everted lower lip v... ORPHA:181393
Trichodysplasia-Xeroderma
Trichodysplasia, Dry hair, Sparse hair, Coarse hair, Sparse axillary hair, Slow-growing hair, Spa... OMIM:190360
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Generalized hirsutism, Delayed eruption of teeth, Abnormal eyebrow morphology, Hypodontia ORPHA:1816
Ectodermal Dysplasia 6, Hair/Nail Type
Dystrophic toenail, Sparse hair, Alopecia, Thin toenail OMIM:614928
Spinocerebellar Ataxia, Autosomal Recessive 20
Inability to walk, Long philtrum, Macroglossia, Delayed eruption of teeth, Dental crowding, Thick... OMIM:616354
Hypotrichosis And Recurrent Skin Vesicles
Sparse eyebrow, Sparse hair, Angular cheilitis, Leukonychia, Sparse axillary hair, Sparse scalp h... OMIM:613102
Ramon Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Narrow palate, Gingival fibromatosi... ORPHA:3019
Trichodysplasia-Xeroderma Syndrome
Trichodysplasia, Coarse hair, Sparse scalp hair, Sparse and thin eyebrow, Brittle hair, Alopecia,... ORPHA:3361
Pyle Disease
Delayed eruption of teeth, Carious teeth, Mandibular prognathia, Hypoplastic frontal sinuses, Abs... OMIM:265900
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Long philtrum, Sparse hair, Widow's peak, Thin upper lip vermilion, Thick eyebrow OMIM:606242
Monilethrix
Abnormal eyebrow morphology, Abnormality of the nail, Sparse hair, Abnormal eyelash morphology, A... ORPHA:573
Otodental Syndrome
Long philtrum, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Delayed erup... ORPHA:2791
Ectodermal Dysplasia/Skin Fragility Syndrome
Dystrophic fingernails, Scaling skin, Sparse hair OMIM:604536
Ectodermal Dysplasia/Short Stature Syndrome
Enamel hypoplasia, Anonychia, Hypodontia, Epidermal acanthosis, Nail dystrophy OMIM:616029
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Jaundice, Pigment gallstones, Splenomegaly, Cholecystitis OMIM:613470
Ectodermal Dysplasia 9, Hair/Nail Type
Atrichia, Sparse hair, Absent eyelashes, Nail dysplasia, Concave nail, Absent hair, Nail dystrophy OMIM:614931
Erythrocytosis, Familial, 8
Jaundice, Cholecystitis, Cholelithiasis, Splenomegaly OMIM:222800
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Long philtrum, Thin vermilion border, Highly arched eyebrow, Sparse eyebrow, Absent axillary hair... OMIM:618419
Autosomal Erythropoietic Protoporphyria
Cirrhosis, Decreased liver function, Cholelithiasis ORPHA:79278
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Hypoplasia of teeth, Abnormal hair morphology, Abnormality of dental morphology, Abnormal fingern... ORPHA:248
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Sparse hair, Abnormality of dental morphology, Thick vermilion border, Abnormality of the dentiti... ORPHA:1810
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Everted lower lip vermilion, Woolly hair, Sparse hair OMIM:278200
Dermoodontodysplasia
Trichodysplasia, Mandibular prognathia, Fingernail dysplasia, Tooth agenesis, Sparse scalp hair, ... ORPHA:1660
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, Narrow mouth, High palate, Micrognathia, Malar flattening OMIM:613849
Eem Syndrome
Carious teeth, Abnormality of dental morphology, Absent eyebrow, Sparse scalp hair, Selective too... ORPHA:1897
Alpha-Thalassemia
Jaundice, Hypersplenism, Cholelithiasis, Splenomegaly ORPHA:846
Tetrasomy 12P
Long philtrum, Delayed eruption of teeth, Abnormal soft palate morphology, Downturned corners of ... ORPHA:884
Ameloonychohypohidrotic Syndrome
Abnormal dental enamel morphology, Onycholysis, Abnormal hair morphology, Marked delay in eruptio... OMIM:104570
Filippi Syndrome
Dystonia, Thin vermilion border, Short philtrum, Sparse hair, Abnormality of dental morphology, H... OMIM:272440
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Abnormality of the philtrum, Long eyelashes, Tooth agenesis, Broad alv... ORPHA:2863
Ectrodactyly And Ectodermal Dysplasia Without Cleft Lip/Palate
Sparse hair, Abnormality of the dentition OMIM:129810
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Reduced terminal:vellus ratio, Sparse hair, Pili torti OMIM:601553
Temple-Baraitser Syndrome
Absent nail of hallux, Long philtrum, Delayed eruption of teeth, Low anterior hairline, Absent to... ORPHA:420561
Familial Reactive Perforating Collagenosis
Abnormal epidermal morphology, Abnormal oral mucosa morphology ORPHA:79147
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Syndromic X-Linked Intellectual Disability 7
Sparse body hair, Tooth malposition, Abnormality of dental morphology ORPHA:85274
Lowry-Maclean Syndrome
Delayed eruption of teeth, Cleft palate OMIM:600252
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Multiple non-erupting secondary teeth, Delayed eruption of primary teeth, Eruption failure, Alveo... OMIM:273050
Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan
Sparse hair, Alopecia OMIM:203600
Hypothyroidism, Congenital, Nongoitrous, 6
Macroglossia, Delayed eruption of teeth, Dry skin, Broad-based gait OMIM:614450
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair, Advanced eruption of teeth ORPHA:2266
Protoporphyria, Erythropoietic, 1
Hepatic failure, Cholelithiasis OMIM:177000
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Abnormal dentin morphology, Fragile teeth, Odontodysplas... ORPHA:49042
Focal Facial Dermal Dysplasia Type I
Low anterior hairline, Sparse hair, Absent eyelashes, Downturned corners of mouth, Thick upper li... ORPHA:79133
Peeling Skin Syndrome 2
Scaling skin, Erythema OMIM:609796
Rosselli-Gulienetti Syndrome
Abnormality of the philtrum, Anodontia, Hypodontia, Nail dysplasia, Sparse and thin eyebrow, Clef... OMIM:225000
Graham Little-Piccardi-Lassueur Syndrome
Sparse scalp hair, Sparse pubic hair, Sparse axillary hair, Alopecia ORPHA:505
4H Leukodystrophy
Dysdiadochokinesis, Delayed eruption of teeth, Dystonia, Drooling, Progressive gait ataxia, Abnor... ORPHA:289494
Bazex Syndrome
Lip hyperpigmentation, Yellow nails, Scaling skin, Nail dystrophy ORPHA:166113
Aredyld
Mandibular prognathia, Generalized hypotrichosis OMIM:207780
Schopf-Schulz-Passarge Syndrome
Onycholysis, Small nail, Sparse hair, Poroma, Ridged nail, Hypodontia, Apocrine hidrocystoma, Thi... OMIM:224750
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Jaundice, Cholecystitis, Cholelithiasis, Splenomegaly OMIM:235700
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia, Stillbirth OMIM:183300
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Hypoplastic toenails, Sparse eyebrow, Sparse hair, Abnormality of the dentition, Micrognathia, Sp... OMIM:616901
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormality of hair texture, Abnormality of the philtrum, Anodontia, Hypodontia, Nail dysplasia, ... OMIM:225060
Angel-Shaped Phalango-Epiphyseal Dysplasia
Delayed eruption of teeth, Hypodontia ORPHA:63442
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Sparse hair, Abnormality of dental morphology, Everted lower lip ve... ORPHA:2251
Pancreatic Colipase Deficiency
Exocrine pancreatic insufficiency, Cholelithiasis ORPHA:309108
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Splenomegaly OMIM:182900
Mandibulofacial Dysostosis With Alopecia
Delayed eruption of primary teeth, Dental crowding, Hypoplasia of the maxilla, Everted lower lip ... OMIM:616367
Congenital Bile Acid Synthesis Defect Type 2
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Chronic hepatic fai... ORPHA:79303
Acrokeratosis Verruciformis
Ridged nail, Epidermal acanthosis OMIM:101900
Acrofacial Dysostosis, Weyers Type
Hypoplastic toenails, Small nail, Abnormality of the dentition, Hypodontia, Solitary median maxil... ORPHA:952
Trichorhinophalangeal Syndrome, Type I
Long philtrum, Carious teeth, Delayed eruption of teeth, Narrow palate, Sparse hair, Deep philtru... OMIM:190350
Hall-Riggs Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Downturned corners of mouth, Thick ... ORPHA:2107
Epidermolysis Bullosa Simplex, Generalized, With Scarring And Hair Loss
Alopecia of scalp, Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails OMIM:617294
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Pyruvate Kinase Deficiency Of Red Cells
Jaundice, Cholecystitis, Cholelithiasis, Splenomegaly OMIM:266200
Immunodeficiency 33
Conical tooth, Delayed eruption of teeth, Hypodontia OMIM:300636
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Abnormality of the nail, Abnormal hair morphology, Absent eyebrow, Sparse axillary hair, Sparse s... ORPHA:1808
Woolly Hair, Autosomal Recessive 3
Sparse hair, Curly hair, Sparse scalp hair, Trichorrhexis nodosa, Fine hair, Sparse eyelashes OMIM:616760
Ichthyosis, Congenital, Autosomal Recessive 14
Scaling skin, Erythema OMIM:617571
Sulfite Oxidase Deficiency, Isolated
Fine hair, Delayed eruption of teeth, Generalized dystonia, Ataxia OMIM:272300
Acral Peeling Skin Syndrome
Excessive wrinkling of palmar skin, Scaling skin, Erythema ORPHA:263534
Keratosis Palmoplantaris Striata Ii
Epidermal acanthosis OMIM:612908
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Epidermal acanthosis OMIM:615735
Trichoodontoonychial Dysplasia With Bone Deficiency
Enamel hypoplasia, Sparse hair, Anodontia, Nail dysplasia, Supernumerary nipple, Nail dystrophy OMIM:275450
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Torticollis, Natal tooth, Abnormality of the mandible, Cleft palate OMIM:217150
Odontoonychodermal Dysplasia
Agenesis of permanent teeth, Dry hair, Sparse hair, Anonychia, Abnormality of primary teeth, Eryt... OMIM:257980
Cleft Palate, Deafness, And Oligodontia
Cleft soft palate, Oligodontia of primary teeth, No permanent dentition OMIM:216300
Pili Torti-Onychodysplasia Syndrome
Trichodysplasia, Absent eyelashes, Absent eyebrow, Cleft lip, Alopecia universalis, Cleft palate,... ORPHA:2890
Aarskog-Scott Syndrome
Long philtrum, Delayed eruption of teeth, Everted lower lip vermilion, High anterior hairline, Ab... ORPHA:915
Gand Syndrome
Short philtrum, Sparse hair, Wide mouth, Thin upper lip vermilion, Hyperactivity OMIM:615074
Congenital Bile Acid Synthesis Defect Type 3
Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnormality, Hep... ORPHA:79302
Barber-Say Syndrome
Delayed eruption of teeth, Thin vermilion border, Absent nipple, Redundant skin, Mandibular progn... OMIM:209885
Tricho-Retino-Dento-Digital Syndrome
Oligodontia, Sparse hair, Abnormality of the dentition, Supernumerary tooth, Uncombable hair ORPHA:1264
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Delayed eruption of teeth, Short philtrum, Dentinogenesis imperfecta ORPHA:71267
Nephronophthisis 19
Cholestasis, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Bile duct proliferation OMIM:616217
Amyloidosis, Primary Localized Cutaneous, 1
Cutis laxa, Scaling skin, Dry skin OMIM:105250
Cleft Lip/Palate
Agenesis of lateral incisor, Hypoplasia of the maxilla, Oral cleft, Peg-shaped maxillary lateral ... ORPHA:199306
Craniolenticulosutural Dysplasia
Long philtrum, Thin vermilion border, Carious teeth, Delayed eruption of teeth, Hypoplasia of tee... ORPHA:50814
Dowling-Degos Disease 4
Epidermal acanthosis OMIM:615696
Odontomicronychial Dysplasia
Abnormality of the nail, Abnormality of the dentition, Premature loss of primary teeth, Thin nail... ORPHA:1811
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Peeling Skin Syndrome 3
White scaling skin OMIM:616265
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Oligodontia, Hypoplastic sweat glands, Abnormality of the nail, Natal tooth, Hypodontia, Sparse s... OMIM:601345
Brachydactyly, Type E2
Delayed eruption of teeth, Oligodontia OMIM:613382
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Splen... OMIM:602347
Focal Facial Dermal Dysplasia 3, Setleis Type
Low anterior hairline, Sparse hair, Thick upper lip vermilion, Absent lower eyelashes, Distichiasis OMIM:227260
Centrifugal Lipodystrophy
Scaling skin, Alopecia, Erythema ORPHA:90156
Intermediate Generalized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Anonychia, Scarring alopecia of scalp, Oral mucosal blisters, Sparse body hair... ORPHA:79402
Ichthyosis, Congenital, Autosomal Recessive 9
Epidermal acanthosis OMIM:615023
Oculodentodigital Dysplasia, Autosomal Recessive
Long philtrum, Thin vermilion border, Abnormal dental enamel morphology, Delayed eruption of teet... OMIM:257850
Rothmund-Thomson Syndrome, Type 1
Sparse hair, Absent eyelashes, Absent eyebrow, Thin nail, Conical tooth, Nail dystrophy OMIM:618625
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Hyperplasia of the Leydig cells, Bilateral breast hypoplasia, Azoospermia, Oli... ORPHA:52901
Martinez-Frias Syndrome
Extrahepatic biliary duct atresia, Pancreatic hypoplasia, Hypospadias, Annular pancreas, Hypoplas... OMIM:601346
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Enamel hypoplasia, Oligodontia, Sparse hair, Sparse eyelashes, Thick hair, Hypodontia, Epidermal ... OMIM:607626
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent nipple, Sparse body hair, Sparse hair, Sparse eyelashes, Everted lower lip vermilion, Hypo... OMIM:614941
48,Xxyy Syndrome
Open bite, Delayed eruption of teeth, Abnormal dental enamel morphology, Carious teeth, Taurodont... ORPHA:10
Ectodermal Dysplasia 4, Hair/Nail Type
Onycholysis, Absent eyelashes, Absent eyebrow, Brittle hair, Alopecia, Congenital onychodystrophy... OMIM:602032
Epidermolytic Hyperkeratosis
Scaling skin, Epidermal acanthosis OMIM:113800
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Trichodermodysplasia-Dental Alterations Syndrome
Delayed eruption of teeth, Abnormality of dental morphology, Tooth agenesis, Sparse scalp hair, S... ORPHA:3353
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Thin vermilion border, Sparse hair, Micrognathia, Hypoplasia of the ma... OMIM:601812
Odontotrichoungual-Digital-Palmar Syndrome
Mandibular prognathia, Natal tooth, Thick vermilion border, Nail dysplasia, Abnormality of hair t... OMIM:601957
Epidermolysis Bullosa, Lethal Acantholytic
Anonychia, Acantholysis, Absent fingernail, Natal tooth, Alopecia totalis, Neonatal death, Alopec... OMIM:609638
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Sparse hair, Abnormality of dental morphology, Sparse eyelashes, Everted lower lip vermilion, Thi... OMIM:224900
Caroli Disease
Cirrhosis, Intrahepatic cholestasis, Elevated circulating alanine aminotransferase concentration,... ORPHA:53035
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Sparse hair, Sparse eyelashes, Micr... ORPHA:1071
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Abnormality of the tongue, Carious teeth, Sparse hair, Abnormality of the dentition, Erythema, Hy... ORPHA:659
Idiopathic Localized Lipodystrophy
Scaling skin, Erythema ORPHA:90158
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Dysdiadochokinesis, Delayed eruption of teeth, Oligodontia, Ataxia, Hypodontia, Dysmetria OMIM:614381
Peeling Skin Syndrome 4
Nail dystrophy, Scaling skin, Epidermal acanthosis OMIM:607936
Palmoplantar Keratoderma, Nagashima Type
Epidermal acanthosis OMIM:615598
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Absent nipple, Sparse hair, Everted lower lip vermilion, Hypodontia, Absent hair, Abnormal number... OMIM:614940
Aicardi-Goutieres Syndrome 5
Scaling skin, Dry skin OMIM:612952
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Delayed eruption of teeth, Low anterior hairline, Abnormality of the mouth, Micrognathia, Hyperac... ORPHA:73272
Beta-Thalassemia
Cholelithiasis, Hepatomegaly, Hepatitis, Splenomegaly, Hypogonadotropic hypogonadism ORPHA:848
Hypotrichosis 8
Nail pits, Sparse hair, Dry hair, Ridged nail, Coarse hair, Sparse axillary hair, Fair hair, Spar... OMIM:278150
Ectodermal Dysplasia 7, Hair/Nail Type
Onycholysis, Sparse hair, Sparse and thin eyebrow, Brittle hair, Alopecia, Dystrophic toenail, Dy... OMIM:614929
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Delayed eruption of teeth, Long philtrum, Highly arched eyebrow, Dental crowding, Wide mouth, Hig... OMIM:618825
Acral Self-Healing Collodion Baby
Lack of skin elasticity, Palmoplantar scaling skin, Erythema ORPHA:281127
Failure Of Tooth Eruption, Primary
Failure of eruption of permanent teeth, Persistence of primary teeth, Hypodontia OMIM:125350
Ectodermal Dysplasia-Skin Fragility Syndrome
Carious teeth, Abnormal tongue morphology, Chapped lip, Sparse hair, Abnormality of dental morpho... ORPHA:158668
Hypotrichosis 6
Sparse hair, Erythema, Sparse and thin eyebrow, Brittle hair, Pili torti, Sparse eyelashes OMIM:607903
Glycogen Storage Disease Vii
Jaundice, Cholelithiasis OMIM:232800
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Absent eyelashes, Scaling skin, Absent eyebrow, Nail dysplasia, Alopecia, Cleft palate, Nail dyst... OMIM:308205
Epidermolysis Bullosa, Nonspecific, Autosomal Recessive
Epidermal acanthosis OMIM:615028
Kid Syndrome
Abnormality of the tongue, Oral leukoplakia, Carious teeth, Delayed eruption of teeth, Hypoplasti... ORPHA:477
Mirizzi Syndrome
Elevated hepatic transaminase, Gallbladder perforation, Cholesterol gallstones, Cholelithiasis, J... ORPHA:521219
Alopecia Antibody Deficiency
Abnormality of dental color, Sparse hair, Abnormal eyelash morphology, Aplasia/Hypoplasia of the ... ORPHA:1006
Steatocystoma Multiplex With Natal Teeth
Natal tooth, Abnormality of the nail OMIM:184510
2Q32Q33 Microdeletion Syndrome
Long philtrum, Thin vermilion border, Oligodontia, Narrow mouth, Sparse hair, Dental crowding, Cl... ORPHA:251019
Progeroid Syndrome, Petty Type
Abnormality of the nail, Sparse hair, Abnormal hair morphology, Redundant skin, Cutis laxa, Evert... ORPHA:2963
Ectodermal Dysplasia With Adrenal Cyst
Nail dysplasia, Delayed eruption of teeth, Hypoplastic nipples, Breast hypoplasia OMIM:129550
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Absent gallbladder, Acholi... OMIM:615710
Frank-Ter Haar Syndrome
Delayed eruption of teeth, Short philtrum, Mandibular prognathia, Thick vermilion border, Wide mo... ORPHA:137834
Peeling Skin Syndrome 5
Epidermal acanthosis OMIM:617115
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Cholelithiasis, Biliary hyperplasia,... ORPHA:567983
Schöpf-Schulz-Passarge Syndrome
Sparse hair, Hypodontia, Premature loss of primary teeth, Alopecia, Aplasia/Hypoplasia of the eye... ORPHA:50944
Focal Facial Dermal Dysplasia Type Iii
Highly arched eyebrow, Short philtrum, Sparse hair, Downturned corners of mouth, Redundant skin, ... ORPHA:1807
Glycogen Storage Disease Xii
Jaundice, Splenomegaly, Cholelithiasis, Cholecystitis OMIM:611881
Tooth Agenesis, Selective, 4
Sparse eyebrow, Sparse hair, Short eyelashes, Tooth agenesis, Peg-shaped maxillary lateral inciso... OMIM:150400
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Delayed eruption of teeth, Short philtrum, Hypopigmentation of hair, Taurodontia, Gait disturbanc... ORPHA:3214
Ichthyosis, Congenital, Autosomal Recessive 1
Sparse hair, Everted lower lip vermilion, Nail dysplasia, Alopecia, Epidermal acanthosis, Nail dy... OMIM:242300
Autosomal Dominant Hyper-Ige Syndrome
Delayed eruption of teeth, Abnormal hair morphology, Abnormality of the dentition, Paronychia, Cl... ORPHA:2314
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Oligodontia, Abnormal dental enamel morphology, Scarring alopecia of scalp, Hypodontia, Sparse sc... ORPHA:59303
Cole Disease
Epidermal acanthosis OMIM:615522
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Bipolar affective disorder, Aggressive behavior, Broad-based gait, Macroorchidism, Congestive hea... ORPHA:3077
Lelis Syndrome
Carious teeth, Abnormality of the mouth, Yellow nails, Sparse hair, Mandibular prognathia, Hypodo... ORPHA:140936
Ectodermal Dysplasia-Syndactyly Syndrome 2
Enamel hypoplasia, Thin upper lip vermilion, Sparse hair OMIM:613576
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Thin upper lip vermilion, Long philtrum, Sparse hair, Alopecia OMIM:617763
Gigantiform Cementoma, Familial
Multiple impacted teeth, Cementoma, Tooth malposition OMIM:137575
Psoriasis 2
Scaling skin, Epidermal acanthosis OMIM:602723
Angioma Serpiginosum, X-Linked
Fine hair, Sparse hair, Nail dystrophy OMIM:300652
Myotonic Dystrophy 1
Hypogonadism, Testicular atrophy, Cholelithiasis OMIM:160900
Congenital Disorder Of Glycosylation, Type If
Scaling skin, Ataxia, Dry skin OMIM:609180
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Delayed eruption of teeth, Hypodontia, Waddling gait, Bifid uvula, High palate, Dental malocclusion OMIM:612350
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Onychauxis, Mandibular prognathia, Hypertrichosis, High palate, Advanced eruption of teeth, Dry skin OMIM:262190
Cranioectodermal Dysplasia
Abnormal dental enamel morphology, Sparse hair, Taurodontia, Everted lower lip vermilion, Abnorma... ORPHA:1515
Incontinentia Pigmenti
Delayed eruption of teeth, Nail pits, Sparse hair, Breast hypoplasia, Ridged nail, Coarse hair, B... OMIM:308300
Hemochromatosis, Type 1
Arrhythmia, Azoospermia, Amenorrhea, Impotence, Testicular atrophy, Congestive heart failure, Car... OMIM:235200
Rutherfurd Syndrome
Delayed eruption of primary teeth, Failure of eruption of permanent teeth OMIM:180900
Cerebellofaciodental Syndrome
Sparse hair, Taurodontia, Macrodontia of permanent maxillary central incisor, Sparse and thin eye... OMIM:616202
X-Linked Non-Syndromic Intellectual Disability
Long philtrum, Delayed eruption of teeth, Drooling, Thin upper lip vermilion, Thick lower lip ver... ORPHA:777
Nicolaides-Baraitser Syndrome
Long philtrum, Thin vermilion border, Highly arched eyebrow, Sparse hair, Everted lower lip vermi... ORPHA:3051
Spinocerebellar Ataxia 32
Infertility, Azoospermia, Ataxia, Testicular atrophy, Cognitive impairment OMIM:613909
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatomegaly, Jaundice, Hepatitis, Splenomegaly OMIM:194380
Monilethrix
Sparse hair, Nail dysplasia, Brittle hair, Alopecia, Abnormality of hair texture, Nail dystrophy OMIM:158000
Andersen Cardiodysrhythmic Periodic Paralysis
Enamel hypoplasia, Oligodontia, Micrognathia, Prominent frontal sinuses, Antegonial notching of m... OMIM:170390
Coffin-Lowry Syndrome
Delayed eruption of teeth, Narrow palate, Advanced eruption of teeth, Open mouth, Abnormality of ... ORPHA:192
Localized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Abnormality of dental color, Dental enamel pits, Scarring alopecia of scalp, S... ORPHA:251393
Hidrotic Ectodermal Dysplasia
Onycholysis, Sparse hair, Sparse eyelashes, Craniofacial hyperostosis, Hyperconvex nail, Sparse a... ORPHA:189
Tremor-Ataxia-Central Hypomyelination Syndrome
Delayed eruption of teeth, Dystonia, Oligodontia, Drooling, Ataxia, Hypodontia, Dysmetria ORPHA:447896
Pachyonychia Congenita 2
Dry hair, Natal tooth, Nail dysplasia, Sparse scalp hair, Subungual hyperkeratosis, Sparse and th... OMIM:167210
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic steatosis, Cholestasis, Hepatit... ORPHA:209902
Cardiofaciocutaneous Syndrome 2
Sparse hair, Curly hair, Absent eyebrow, High palate, Fine hair OMIM:615278
Char Syndrome
Short philtrum, Everted lower lip vermilion, Thick vermilion border, Persistence of primary teeth... ORPHA:46627
Spinocerebellar Ataxia Type 32
Azoospermia, Progressive cerebellar ataxia, Testicular atrophy, Cognitive impairment, Male infert... ORPHA:276183
Laron Syndrome
Delayed eruption of teeth, Microdontia, Micrognathia, Tooth agenesis ORPHA:633
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Highly arched eyebrow, Carious teeth, Abnormal dental enamel morphology, Sparse hair, Abnormality... ORPHA:3253
Coffin-Siris Syndrome 10
Wide mouth, Persistence of primary teeth OMIM:618506
Basan Syndrome
Epidermal acanthosis OMIM:129200
Aredyld Syndrome
Abnormal dental enamel morphology, Narrow mouth, Craniofacial hyperostosis, Mandibular prognathia... ORPHA:1133
Woolly Hair
Hypopigmentation of hair, Slow-growing hair, Sparse lateral eyebrow, Brittle hair, Abnormality of... ORPHA:170
Pandas
Claustrophobia, Depression, Agoraphobia, Enuresis, Emotional lability, Separation insecurity, Imp... ORPHA:66624
Palmoplantar Keratoderma And Woolly Hair
Leukonychia, Sparse scalp hair, Sparse and thin eyebrow, Sparse body hair, Woolly hair, Woolly sc... OMIM:616099
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
Dry skin, Scaling skin, Erythema OMIM:614457
Sclerosing Cholangitis, Neonatal
Cirrhosis, Elevated hepatic transaminase, Sclerosing cholangitis, Biliary cirrhosis, Cholestasis,... OMIM:617394
Rare Cutaneous Lupus Erythematosus
Psoriasiform lesion, Abnormality of the periungual region, Onycholysis, Nail bed telangiectasia, ... ORPHA:535
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Delayed eruption of teeth, Narrow palate, Anodontia, Supernumerary tooth, High palate, Dental mal... OMIM:264475
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Low anterior hairline, Sparse hair, Everted lower lip vermilion, Hirsutism, Long eyelashes, Ataxi... OMIM:616819
Oculofaciocardiodental Syndrome
Long philtrum, Oligodontia, Delayed eruption of teeth, Tooth malposition, Highly arched eyebrow, ... ORPHA:2712
Acrofacial Dysostosis, Palagonia Type
Low anterior hairline, Oligodontia, Sparse hair, Unilateral cleft lip, Sparse lateral eyebrow, Su... ORPHA:1787
Oliver-Mcfarlane Syndrome
Long eyelashes, Long eyebrows, Sparse hair, Alopecia OMIM:275400
Ketamine-Induced Biliary Dilatation
Abnormal biliary tract morphology ORPHA:293807
Blepharocheilodontic Syndrome 1
Small nail, Sparse hair, High anterior hairline, Hypodontia, Cleft upper lip, Distichiasis, Conic... OMIM:119580
Isolated Biliary Atresia
Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Periportal fibrosis, Hypopituitari... ORPHA:30391
Trichothiodystrophy 5, Nonphotosensitive
Sparse hair, Mandibular prognathia, Wide mouth, Tiger tail banding, Slow-growing hair, Brittle ha... OMIM:300953
Vulvovaginal Gingival Syndrome
Oral ulcer, Ridged nail, Erythema, Epidermal acanthosis, Gingivitis ORPHA:83453
Xq27.3Q28 Duplication Syndrome
Sparse body hair, Thin vermilion border ORPHA:261483
Barber-Say Syndrome
Delayed eruption of teeth, Redundant skin, Wide mouth, Breast aplasia, Hypoplastic nipples, Spars... ORPHA:1231
Camptodactyly Syndrome, Guadalajara Type 1
Open bite, Highly arched eyebrow, Narrow mouth, Downturned corners of mouth, Mandibular prognathi... ORPHA:1327
Pachyonychia Congenita
Oral leukoplakia, Onychogryposis of fingernail, Natal tooth, Angular cheilitis, Paronychia, Finge... ORPHA:2309
Ichthyosis, Congenital, Autosomal Recessive 2
Small nail, Abnormal hair morphology, Everted lower lip vermilion, Erythema, Thin nail, Alopecia,... OMIM:242100
Hidrotic Ectodermal Dysplasia, Halal Type
Trichodysplasia, Absent eyelashes, Absent eyebrow, Nail dysplasia, Sparse scalp hair, Sparse body... ORPHA:1809
Hair Defect With Photosensitivity And Mental Retardation
Sparse hair, Coarse hair, Sparse and thin eyebrow, Brittle hair, Sparse eyelashes OMIM:234030
North American Indian Childhood Cirrhosis
Prolonged neonatal jaundice, Portal hypertension, Biliary cirrhosis OMIM:604901
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Delayed eruption of teeth OMIM:612463
Rapp-Hodgkin Syndrome
Decreased number of sweat glands, Small nail, Narrow mouth, Sparse hair, Small, conical teeth, Hy... OMIM:129400
Palmoplantar Keratoderma And Congenital Alopecia 1
Sparse eyebrow, Sparse hair, Leukonychia, Palmoplantar erythema, Nail dysplasia, Brittle hair, Al... OMIM:104100
Beta-Thalassemia Intermedia
Cirrhosis, Hepatocellular carcinoma, Cholelithiasis, Hepatomegaly, Jaundice, Decreased liver func... ORPHA:231222
Rothmund-Thomson Syndrome, Type 2
Delayed eruption of teeth, Sparse eyebrow, Agenesis of permanent teeth, Hypoplasia of teeth, Prem... OMIM:268400
Immunodeficiency 49
Short philtrum, Cutis laxa, Natal tooth, Hirsutism, Micrognathia OMIM:617237
Shukla-Vernon Syndrome
Sparse hair, Drooling, Attention deficit hyperactivity disorder, Broad-based gait OMIM:301029
Disorder Of Bile Acid Synthesis
Abnormality of the liver, Elevated hepatic transaminase, Biliary tract abnormality, Cholestasis ORPHA:79168
Cleidocranial Dysplasia
Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Mandibula... ORPHA:1452
Glass Syndrome
Oligodontia, Narrow mouth, Sparse hair, Dental crowding, Smooth philtrum, Nail dysplasia, Cleft p... OMIM:612313
Intellectual Developmental Disorder, Autosomal Dominant 65
Long philtrum, Short philtrum, Sparse hair, Downturned corners of mouth, Micrognathia, Thick uppe... OMIM:619320
Bazex Syndrome
Abnormality of the mouth, Sparse hair, Coarse hair, Trichoepithelioma, Trichorrhexis nodosa, Pili... OMIM:301845
Momo Syndrome
Long philtrum, Delayed eruption of teeth, Taurodontia, Hyperconvex nail, Smooth philtrum, High pa... OMIM:157980
Cardiocranial Syndrome, Pfeiffer Type
Sparse hair, Temporomandibular joint ankylosis, Abnormal hair whorl, Broad philtrum, Torticollis,... ORPHA:2872
Chst3-Related Skeletal Dysplasia
Long philtrum, Highly arched eyebrow, Delayed eruption of teeth, Sparse eyebrow, Waddling gait ORPHA:263463
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Sparse hair, High, narrow palate, Wide mouth, Downturned corners of mouth OMIM:273390
Neonatal Inflammatory Skin And Bowel Disease
Chapped lip, Horizontal eyebrow, Scaling skin, Erythema, Chronic monilial nail infection, Slow-gr... ORPHA:294023
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnor... ORPHA:79301
Cockayne Syndrome Type 2
Enamel hypoplasia, Delayed eruption of primary teeth, Hypoplasia of the primary teeth, Difficulty... ORPHA:90322
Kohlschutter-Tonz Syndrome-Like
Inability to walk, Enamel hypoplasia, Carious teeth, Amelogenesis imperfecta, Delayed eruption of... OMIM:619229
Incontinentia Pigmenti
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of the nail, Abnormalit... ORPHA:464
Odontochondrodysplasia
Dentinogenesis imperfecta, Retrognathia, Delayed eruption of teeth ORPHA:166272
Short Syndrome
Delayed eruption of teeth, Downturned corners of mouth, Premature skin wrinkling, Hypodontia, Den... OMIM:269880
Gapo Syndrome
Long philtrum, Delayed eruption of teeth, Everted lower lip vermilion, Abnormal palate morphology... ORPHA:2067
Mcdonough Syndrome
Short philtrum, Hypoplastic toenails, Sparse hair, Mandibular prognathia, Synophrys, Furrowed ton... OMIM:248950
Craniosynostosis And Dental Anomalies
Delayed eruption of teeth, Fingernail dysplasia, Supernumerary tooth, Hypoplasia of the maxilla OMIM:614188
Olmsted Syndrome 2
Sparse hair, Cheilitis, Alopecia universalis, Epidermal acanthosis, Woolly hair OMIM:619208
Pycnodysostosis
Delayed eruption of teeth, Abnormality of the nail, Narrow palate, Abnormality of dental morpholo... ORPHA:763
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Abnormality of the nail, Sparse hair, Absent eyelashes, Abnormality of the dentition, Absent eyeb... OMIM:607823
Helsmoortel-Van Der Aa Syndrome
Long philtrum, Advanced eruption of teeth, Everted lower lip vermilion, High anterior hairline, W... OMIM:615873
Biliary Cirrhosis, Primary, 1
Biliary cirrhosis OMIM:109720
Frontometaphyseal Dysplasia 1
Delayed eruption of teeth, Hirsutism, Persistence of primary teeth, Selective tooth agenesis, Hig... OMIM:305620
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Psoriasiform lesion, Oral ulcer, Alopecia ORPHA:169154
Crandall Syndrome
Brittle hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Fine hair, Pili torti ORPHA:202
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Psoriasiform lesion, Scaling skin ORPHA:284426
Vitamin D-Dependent Rickets, Type 2A
Enamel hypoplasia, Delayed eruption of teeth, Carious teeth, Difficulty walking, Alopecia univers... OMIM:277440
Momo Syndrome
Long philtrum, Delayed eruption of teeth, Taurodontia, Hyperconvex nail, Smooth philtrum, Thick u... ORPHA:2563
Trichothiodystrophy 4, Nonphotosensitive
Small nail, Sparse hair, Hypoplasia of teeth, Nail dysplasia, Concave nail, Retrognathia, Brittle... OMIM:234050
Bazex-Dupré-Christol Syndrome
Sparse hair, Coarse hair, Sparse scalp hair, Sparse and thin eyebrow, Sparse or absent eyelashes,... ORPHA:113
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Coarse hair, Carious teeth, Brittle hair, Sparse hair ORPHA:1883
Rothmund-Thomson Syndrome
Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Sparse eyebrow, Hypo... ORPHA:2909
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology ORPHA:3032
Rhizomelic Chondrodysplasia Punctata
Sparse body hair, Abnormality of the dentition, Alopecia, Dry skin ORPHA:177
Lamellar Ichthyosis
Abnormality of the nail, Sparse hair, Everted lower lip vermilion, Abnormality of the dentition, ... ORPHA:313
Lowry-Maclean Syndrome
Delayed eruption of primary teeth, Talon cusp, Downturned corners of mouth, Generalized hypertric... ORPHA:2409
Craniolenticulosutural Dysplasia
Long philtrum, Carious teeth, Delayed eruption of teeth, Hypoplasia of teeth, Sparse hair, Wide m... OMIM:607812
Symptomatic Form Of Hemochromatosis Type 1
Infertility, Lethargy, Arrhythmia, Amenorrhea, Apathy, Erectile dysfunction, Hypothyroidism, Elev... ORPHA:465508
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Inability to walk, Dystonia, Sparse hair, Mandibular prognathia, Hirsutism, Ataxia, Dysmetria OMIM:618087
Chromosome 13Q33-Q34 Deletion Syndrome
Delayed eruption of teeth, Short philtrum, Open mouth, Tented upper lip vermilion, Irregular dent... OMIM:619148
Peroxisome Biogenesis Disorder 12A (Zellweger)
Abnormality of the male genitalia, Cholelithiasis, Elevated hepatic transaminase, Hepatic failure OMIM:614886
Smith-Magenis Syndrome
Delayed eruption of primary teeth, Short philtrum, Open mouth, Taurodontia, Gait disturbance, Man... ORPHA:819
48,Xxxy Syndrome
Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Taurodont... ORPHA:96263
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Short philtrum, Thin vermilion border, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Micrognathia ORPHA:261304
Moynahan Syndrome
Sparse hair, Alopecia ORPHA:2574
Hallermann-Streiff Syndrome
Thin vermilion border, Narrow palate, Narrow mouth, Sparse hair, Sparse eyelashes, Everted lower ... OMIM:234100
Emanuel Syndrome
Long philtrum, Delayed eruption of teeth, Tooth malposition, Dental crowding, Submucous cleft lip... ORPHA:96170
Lessel-Kubisch Syndrome
Sparse pubic hair, Narrow mouth, Premature graying of hair OMIM:618681
Acrodysostosis
Open bite, Delayed eruption of teeth, Abnormality of the nail, Open mouth, Mandibular prognathia,... ORPHA:950
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Azoospermia, De... OMIM:308700
Anauxetic Dysplasia 2
Macroglossia, Small nail, Sparse hair, Hypodontia, Nail dysplasia OMIM:617396
Acrootoocular Syndrome
Delayed eruption of teeth, Dental malocclusion, Grayish enamel, Anodontia, Supernumerary tooth, H... ORPHA:2980
Trichorhinophalangeal Syndrome Type 1 And 3
Long philtrum, Sparse hair, Long upper lip, Leukonychia, Abnormality of the dentition, Sparse and... ORPHA:77258
Three M Syndrome 2
Long philtrum, Delayed eruption of teeth, Thick vermilion border, High palate, Dental malocclusio... OMIM:612921
Hydrocephalus-Obesity-Hypogonadism Syndrome
Sparse facial hair, High, narrow palate, Low posterior hairline, Absent facial hair ORPHA:2183
Sener Syndrome
Natal tooth, Smooth philtrum, Wide mouth, Hypodontia, Coarse hair, High palate, Delayed eruption ... OMIM:606156
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Delayed eruption of teeth, Oligodontia, Narrow palate, Narrow mouth, Hirsutism, Smooth philtrum, ... OMIM:235510
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Decreased circu... OMIM:308750
Erythrokeratodermia Variabilis Et Progressiva 4
Epidermal acanthosis, Erythema OMIM:617526
Mental Retardation, Autosomal Recessive 5
Short philtrum, Sparse hair, Thick upper lip vermilion, Smooth philtrum, Synophrys, Thick eyebrow OMIM:611091
Lethal Acantholytic Erosive Disorder
Absent toenail, Absent eyelashes, Acantholysis, Absent fingernail, Natal tooth, Absent eyebrow, C... ORPHA:158687
Odontomicronychial Dysplasia
Short nail, Thin nail, Slow-growing nails, Premature eruption of permanent teeth OMIM:601319
Brachydactyly, Type B1
Anonychia, Hypoplastic fingernail, Delayed eruption of permanent teeth OMIM:113000
Choroidal Atrophy-Alopecia Syndrome
Sparse hair, Ungual fibroma, Sparse or absent eyelashes, Abnormal toenail morphology, Supernumera... ORPHA:1433
Fanconi Anemia, Complementation Group S
Low anterior hairline, Narrow palate, Sparse hair, Thick upper lip vermilion, Long eyelashes, Den... OMIM:617883
Rothmund-Thomson Syndrome Type 1
Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Facial erythema, Spa... ORPHA:221008
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Alopecia universalis, Scaling skin, Patchy alopecia OMIM:606367
Macs Syndrome
Sparse hair, Thick lower lip vermilion, Redundant skin, Cutis laxa, Irregular dentition, Sparse a... OMIM:613075
49,Xxxxy Syndrome
Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Taurodont... ORPHA:96264
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Long philtrum, Oligodontia, Short philtrum, Low anterior hairline, Hypoplasia of teeth, Narrow mo... ORPHA:391408
Gapo Syndrome
Sparse eyebrow, Sparse hair, Breast hypoplasia, Micrognathia, Redundant skin, Abnormality of the ... OMIM:230740
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Sparse hair, Hypoplasia of the maxilla, Absent pubic hair, Absent axillary hair, Anodontia, Hypop... OMIM:211370
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Oligodontia, Abnormality of the dentition, Alopecia, Microdontia, Abno... ORPHA:2315
Weismann-Netter Syndrome
Delayed eruption of permanent teeth OMIM:112350
Progeroid Facial Appearance With Hand Anomalies
Short philtrum, Thin vermilion border, Narrow mouth, Sparse hair OMIM:602249
Codas Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of dental morphology ORPHA:1458
Cutis Laxa, Autosomal Recessive, Type Iiib
Thin vermilion border, Sparse hair, Dermal translucency, Cutis laxa, Excessive wrinkled skin, Fin... OMIM:614438
Dyskeratosis Congenita, Autosomal Dominant 1
Oral leukoplakia, Carious teeth, Nail pits, Sparse hair, Premature graying of hair, Ridged nail, ... OMIM:127550
Erythrokeratodermia Variabilis Et Progressiva 3
Epidermal acanthosis, Erythema OMIM:617525
Kennedy Disease
Erectile dysfunction, Gait disturbance, Testicular atrophy, Type II diabetes mellitus, Decreased ... ORPHA:481
Primary Sclerosing Cholangitis
Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Acute hepatic failure, Chroni... ORPHA:171
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent eyebrow, Hypoplasia of the maxilla, Concave nail, Abnormal oral mucosa morphology, Conical... OMIM:305100
Craniometaphyseal Dysplasia, Autosomal Recessive
Facial hyperostosis, Mandibular prognathia, Broad alveolar ridges, Delayed eruption of permanent ... OMIM:218400
Hereditary Mucoepithelial Dysplasia
Sparse hair, Furrowed tongue, Alopecia, Gingival overgrowth, Fine hair ORPHA:1839
Trichorhinophalangeal Syndrome, Type Iii
Long philtrum, Sparse hair, Dental crowding, Smooth philtrum, Thin upper lip vermilion, Sparse la... OMIM:190351
Familial Isolated Hypoparathyroidism
Delayed eruption of teeth, Abnormal dental enamel morphology ORPHA:2238
Nablus Mask-Like Facial Syndrome
Long philtrum, Low anterior hairline, Highly arched eyebrow, Narrow mouth, Sparse hair, Hypoplasi... OMIM:608156
Ellis Van Creveld Syndrome
Delayed eruption of teeth, Thin vermilion border, Hypoplastic toenails, Abnormality of the nail, ... ORPHA:289
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Oligodontia, Gait ataxia, Truncal ataxia, Narrow mouth, Downturned corners of mouth, Sparse hair,... OMIM:616817
Rothmund-Thomson Syndrome Type 2
Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Facial erythema, Spa... ORPHA:221016
Graft Versus Host Disease
Oral ulcer, Scaling skin, Stomatitis, Trismus ORPHA:39812
Wolfram Syndrome 1
Neurogenic bladder, Hydroureter, Megaloblastic anemia, Hypothyroidism, Ataxia, Sideroblastic anem... OMIM:222300
Pseudoprogeria Syndrome
Sparse hair, Absent eyelashes, Absent eyebrow, Sparse and thin eyebrow, Alopecia ORPHA:2985
Congenital Nephrotic Syndrome, Finnish Type
Delayed eruption of permanent teeth ORPHA:839
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse body hair, Slow-growing hair, Sparse eyelashes, Dry skin OMIM:618535
Kleefstra Syndrome
Delayed eruption of teeth, Macroglossia, Highly arched eyebrow, Downturned corners of mouth, Ever... ORPHA:261494
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Male hypogonadism, Chronic active hepatitis, Cholelithiasis, Female hypogonadism, Asplenia, Hypop... OMIM:240300
De Barsy Syndrome
Delayed eruption of teeth, Dermal translucency, Narrow mouth, Sparse hair, Small, conical teeth, ... ORPHA:2962
Coffin-Siris Syndrome
Delayed eruption of teeth, Low anterior hairline, Small nail, Prominent eyelashes, Hypoplastic fi... ORPHA:1465
19Q13.11 Microdeletion Syndrome
Thin vermilion border, Sparse hair, Wide mouth, Solitary median maxillary central incisor, Nail d... ORPHA:217346
Ichthyosis Vulgaris
Absent keratohyalin granules, Dry skin OMIM:146700
Glycogen Storage Disease Ixc
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation OMIM:613027
Ifap Syndrome 2
Perioral erythema, Atrichia, Sparse hair, Angular cheilitis, Nail dystrophy OMIM:619016
Ectodermal Dysplasia, Trichoodontoonychial Type
Absent nipple, Sparse hair, Hypodontia OMIM:129510
Sialuria
Hepatomegaly, Hepatosplenomegaly, Elevated hepatic transaminase, Cholelithiasis ORPHA:3166
Focal Facial Dermal Dysplasia Type Iv
Abnormal epidermal morphology, Cleft upper lip, Cleft palate ORPHA:398189
Chromosome 19Q13.11 Deletion Syndrome, Distal
Carious teeth, Thin vermilion border, Short philtrum, Sparse eyebrow, Sparse hair, Sparse eyelash... OMIM:613026
Odontochondrodysplasia 1
Long philtrum, Dentinogenesis imperfecta, Delayed eruption of teeth OMIM:184260
Impacted Teeth, Multiple
Multiple impacted teeth, Supernumerary tooth OMIM:308280
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Retrognathia, Cleft palate, Bifid uvula, Facial hyperostosis, High, na... ORPHA:2780
Emanuel Syndrome
Long philtrum, Delayed eruption of primary teeth, Dental crowding, Broad jaw, Cleft palate, High ... OMIM:609029
Short Syndrome
Abnormal dental enamel morphology, Sparse hair, Abnormality of the zygomatic bone, Abnormality of... ORPHA:3163
Hypotrichosis 12
Sparse hair, Dry hair, Slow-growing hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the e... OMIM:615885
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
High palate, Persistence of primary teeth, Erythema OMIM:147060
Ppoma
Increased circulating gonadotropin level, Elevated circulating growth hormone concentration, Extr... ORPHA:97278
Distal Trisomy 5Q
Cryptorchidism, Aplasia/Hypoplasia of the gallbladder, Hypospadias ORPHA:96097
Johnson Neuroectodermal Syndrome
Carious teeth, Sparse hair, Absent eyelashes, Everted lower lip vermilion, Absent eyebrow, Alopec... ORPHA:2316
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Cutis laxa, Sparse hair, Long upper lip, Cleft palate OMIM:615349
Johnson Neuroectodermal Syndrome
Carious teeth, Sparse hair, Absent eyelashes, Absent eyebrow, Alopecia, Cleft palate, Retrognathia OMIM:147770
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Teeth Present At Birth
Natal tooth OMIM:187050
Triosephosphate Isomerase Deficiency
Jaundice, Splenomegaly, Cholelithiasis, Cholecystitis OMIM:615512
Mucopolysaccharidosis, Type Ii
Delayed eruption of teeth, Macroglossia, Hypertrichosis, Thick lower lip vermilion, Widely spaced... OMIM:309900
Teebi Hypertelorism Syndrome
Highly arched eyebrow, Long philtrum, Dental crowding, Widow's peak, Natal tooth OMIM:145420
Xp22.13P22.2 Duplication Syndrome
Sparse hair, High anterior hairline, Mandibular prognathia, High palate, Attention deficit hypera... ORPHA:284180
Genitopatellar Syndrome
Long philtrum, Delayed eruption of teeth, Sparse scalp hair, Micrognathia, Fine hair ORPHA:85201
Sickle Cell Anemia
Hepatomegaly, Jaundice, Cholelithiasis, Splenomegaly OMIM:603903
Dubowitz Syndrome
Delayed eruption of teeth, Carious teeth, Agenesis of permanent teeth, Sparse scalp hair, Sparse ... OMIM:223370
Dubowitz Syndrome
Delayed eruption of teeth, Low anterior hairline, Hypoplastic toenails, Abnormal fingernail morph... ORPHA:235
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy, Pure red cell aplasia, Anemia OMIM:618165
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hypoplasia of teeth, Narrow mouth, Dental crowding, Sparse hair, Brittle hair, Alopecia, Abnormal... OMIM:608612
Zimmermann-Laband Syndrome 1
Delayed eruption of teeth, Gingival fibromatosis, Small nail, Mandibular prognathia, Hirsutism, S... OMIM:135500
Papillon-Lefèvre Syndrome
Generalized hirsutism, Severe periodontitis, Abnormality of the nail, Periodontitis, Atrophy of a... ORPHA:678
Porphyria Cutanea Tarda
Hypertrichosis, Hirsutism, Scaling skin ORPHA:101330
Dyskeratosis Congenita, Autosomal Recessive 2
Thrombocytopenia, Testicular atrophy, Pancytopenia, Nail dystrophy OMIM:613987
Cronkhite-Canada Syndrome
Hypoplastic toenails, Aplasia/Hypoplasia of the eyebrow, Furrowed tongue, Patchy alopecia, Dystro... ORPHA:2930
Dysosteosclerosis
Craniofacial hyperostosis, Delayed eruption of teeth, Abnormal dental enamel morphology ORPHA:1782
Hawkinsinuria
Fine hair, Sparse hair ORPHA:2118
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Long philtrum, Abnormal hair morphology, Abnormal eyelash morphology, Leukonychia, Scaling skin, ... ORPHA:2526
3M Syndrome
Long philtrum, Abnormal dental enamel morphology, Delayed eruption of teeth, Everted lower lip ve... ORPHA:2616
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Small nail, Sparse hair, Abnormality of the dentition, Hypoplastic nipples, Cleft upper lip OMIM:273400
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Short philtrum, Natal tooth, Nail dystrophy, Hypoplastic sweat glands OMIM:617337
Restrictive Dermopathy
Sparse eyebrow, Narrow mouth, Dermal translucency, Sparse hair, Temporomandibular joint ankylosis... ORPHA:1662
Hereditary Elliptocytosis
Prolonged neonatal jaundice, Jaundice, Cholelithiasis, Splenomegaly ORPHA:288
Oligodontia-Colorectal Cancer Syndrome
Oligodontia, Short eyelashes, Sparse axillary hair, Absent eyebrow, Sparse scalp hair, Sparse bod... OMIM:608615
Cimdag Syndrome
Hepatomegaly, Hypogonadism, Microvesicular hepatic steatosis, Cholelithiasis OMIM:619273
Congenital Disorder Of Glycosylation, Type Iia
Thin vermilion border, Sparse hair, Open mouth, Everted lower lip vermilion, Diastema, Hirsutism,... OMIM:212066
Inflammatory Skin And Bowel Disease, Neonatal, 2
Long eyelashes, Epidermal acanthosis OMIM:616069
Proteus Syndrome
Facial hyperostosis, Mandibular hyperostosis, Epidermal acanthosis, Open mouth OMIM:176920
Cranioectodermal Dysplasia 3
Hypoplasia of teeth, Sparse hair, Broad nail, Cutis laxa, Everted lower lip vermilion, Fine hair,... OMIM:614099
Heyn-Sproul-Jackson Syndrome
Sparse hair OMIM:618724
Immunodeficiency 58
Psoriasiform lesion, Recurrent aphthous stomatitis, Scaling skin OMIM:618131
8P Inverted Duplication/Deletion Syndrome
Long philtrum, Everted lower lip vermilion, Wide mouth, Synophrys, Frontal balding, Retrognathia,... ORPHA:96092
Elsahy-Waters Syndrome
Long philtrum, Delayed eruption of teeth, Multiple impacted teeth, Mandibular prognathia, Dental ... OMIM:211380
Ellis-Van Creveld Syndrome
Delayed eruption of teeth, Natal tooth, Hypodontia, Nail dysplasia, Cleft upper lip, Abnormality ... OMIM:225500
Rabson-Mendenhall Syndrome
Low anterior hairline, Macroglossia, Premature graying of hair, Dental crowding, Onychauxis, Thic... ORPHA:769
Woodhouse-Sakati Syndrome
Dystonia, Scaling skin, Anodontia, Alopecia, Aplasia/Hypoplasia of the eyebrow ORPHA:3464
Dysosteosclerosis
Delayed eruption of teeth, Oligodontia, Absent frontal sinuses, Natal tooth, High palate, Microgn... OMIM:224300
Trichothiodystrophy 1, Photosensitive
Small nail, Sparse hair, Tiger tail banding, Nail dystrophy, Triangular mouth, Brittle hair, Abno... OMIM:601675
Alopecia-Intellectual Disability Syndrome
Sparse body hair, Sparse scalp hair, Alopecia, Aplasia/Hypoplasia of the eyebrow ORPHA:2850
Meckel Syndrome, Type 3
Hepatic fibrosis, Bile duct proliferation, Malformation of the hepatic ductal plate, Hepatomegaly OMIM:607361
Elastosis Perforans Serpiginosa
Cutis laxa, Epidermal acanthosis ORPHA:79148
Sickle Cell Anemia
Pigment gallstones, Abnormality of the spleen, Cholestasis ORPHA:232
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Absent eyelashes, Anonychia, Hypoplasia of the maxilla, Hyperconvex nail, Hypodontia, Selective t... OMIM:106260
Grfoma
Increased circulating gonadotropin level, Elevated circulating growth hormone concentration, Extr... ORPHA:97261
Trichohepatoenteric Syndrome 2
Sparse hair, Uncombable hair, Brittle hair, Pili canaliculi, Woolly hair, Trichorrhexis nodosa OMIM:614602
Pseudohypoparathyroidism Type 1B
Enamel hypoplasia, Laryngeal dystonia, Delayed eruption of teeth ORPHA:94089
Basel-Vanagaite-Smirin-Yosef Syndrome
Short philtrum, Sparse hair, Everted lower lip vermilion, Tented upper lip vermilion, Cleft palate OMIM:616449
Skin Fragility-Woolly Hair Syndrome
Acantholysis, Nail dysplasia, Sparse and thin eyebrow, Alopecia, Woolly hair, Nail dystrophy, Spa... OMIM:607655
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Difficulty walking, Delayed eruption of teeth, Enamel hypoplasia OMIM:264700
Trisomy 9P
Hypoplastic toenails, Impacted tooth, Downturned corners of mouth, Dental crowding, Non-midline c... ORPHA:236
Oculodentodigital Dysplasia
Enamel hypoplasia, Carious teeth, Dry hair, Taurodontia, Sparse hair, Ataxia, Selective tooth age... OMIM:164200
Hereditary Spherocytosis
Hepatomegaly, Jaundice, Cholelithiasis, Splenomegaly ORPHA:822
Sabinas Brittle Hair Syndrome
Sparse hair, Dry hair, Nail dysplasia, Brittle hair, Nail dystrophy OMIM:211390
Melnick-Needles Syndrome