Phenotypic Abnormality (PA): Abnormality of the skeletal system 

Root: HP Hierarchy (human phenotype with 3 sub-ontologies PA, MI, ON)

Shortest distance to current term (+ for parents, - for children)	HP term [HP ID] <#Children>	#Domains (Superfamily|Family)	#Supra-domain (Single|Duplex|Triple)
+ 1:	Phenotypic abnormality [HP:0000118] <25>
0:	Abnormality of the skeletal system [HP:0000924] <7>	(88|98)	(93|55|34)
- 1:	Ectopic calcification [HP:0010766] <26>	(0|1)	(1|1|0)
- 1:	Abnormality of skeletal morphology [HP:0011842] <17>	(86|89)	(90|52|33)
- 1:	Abnormality of skeletal physiology [HP:0011843] <8>	(17|23)	(17|15|15)
- 1:	Abnormality of odontoid tissue [HP:3000050] <3>	(0|1)	(0|1|0)
- 1:	Abnormality of the nasal skeleton [HP:0010937] <2>	(0|0)	(0|0|0)
- 1:	Abnormality of limb bone [HP:0040068] <1>	(29|32)	(33|18|20)
- 1:	Abnormality of the periosteum [HP:0040166] <1>	(0|0)	(0|0|0)

Superfamily

Highlighted in gray are those with FDR_all>0.001

SCOP term	FDR (all)	Annotation (direct or inherited)
Notch domain	0	DIRECT
C-terminal, gelsolin-like domain of Sec23/24	0	DIRECT
Tricorn protease domain 2	0	DIRECT
Hect, E3 ligase catalytic domain	0	DIRECT
DPP6 N-terminal domain-like	0	DIRECT
Rhodanese/Cell cycle control phosphatase	0	DIRECT
L27 domain	0	DIRECT
PUA domain-like	0	DIRECT
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain	0	DIRECT
SNARE fusion complex	0	DIRECT
Acyl-CoA N-acyltransferases (Nat)	0	DIRECT
HIT-like	0	DIRECT
ADC-like	0	DIRECT
TB module/8-cys domain	0	DIRECT
CalX-like	0	DIRECT
Restriction endonuclease-like	0	DIRECT
RuvA domain 2-like	0	DIRECT
Plakin repeat	0	DIRECT
FAD-linked oxidases, C-terminal domain	0	DIRECT
Helical domain of Sec23/24	0	DIRECT
HCP-like	0	DIRECT
Pseudouridine synthase	0	DIRECT
Glycerol-3-phosphate (1)-acyltransferase	0	DIRECT
FKBP-like	0	DIRECT
Smc hinge domain	0	DIRECT
4Fe-4S ferredoxins	0	DIRECT
DNase I-like	0	DIRECT
Metallo-dependent phosphatases	0	DIRECT
SAND domain-like	0	DIRECT
Fibrinogen coiled-coil and central regions	0	DIRECT
Saposin	0	DIRECT
Ribonuclease PH domain 2-like	0	DIRECT
tRNA-intron endonuclease catalytic domain-like	0	DIRECT
Zn-finger domain of Sec23/24	0	DIRECT
CCCH zinc finger	0	DIRECT
GroEL equatorial domain-like	0	DIRECT
BPTI-like	0	DIRECT
BRK domain-like	0	DIRECT
Nucleotide-diphospho-sugar transferases	0.004032	INHERITED FROM: Abnormality of the curvature of the vertebral column || Macrocephaly
Actin-like ATPase domain	0.004037	INHERITED FROM: Prominent metopic ridge
Ribonuclease H-like	0.06173	INHERITED FROM: Progressive microcephaly
beta-sandwich domain of Sec23/24	0.07412	INHERITED FROM: Abnormality of cranial sutures || Abnormality of the curvature of the vertebral column || Scoliosis || Abnormality of the vertebral column
Homeodomain-like	0.09294	INHERITED FROM: Decreased cervical spine mobility || Localized osteoporosis || Osteoporosis of vertebrae || Large fontanelles
GST C-terminal domain-like	0.1039	INHERITED FROM: Kyphoscoliosis
N-terminal nucleophile aminohydrolases (Ntn hydrolases)	0.1039	INHERITED FROM: Finger swelling
WD40 repeat-like	0.1098	INHERITED FROM: Foot polydactyly || Duplication involving bones of the feet || Short ribs || Absent or minimally ossified vertebral bodies || Abnormal pelvis bone ossification || Hand polydactyly || Abnormally ossified vertebrae || Short thorax || Thoracic dysplasia
Cystine-knot cytokines	0.1135	INHERITED FROM: Abnormal middle phalanx morphology of the hand || Spondylolisthesis || Abnormality of the middle phalanx of the 5th finger || Aplasia/Hypoplasia of the middle phalanges of the hand || Tarsal synostosis || Vertebral fusion
Ribosomal protein S5 domain 2-like	0.1162	INHERITED FROM: Flexion contracture
SET domain	0.1162	INHERITED FROM: Abnormality of the hip bone || Radioulnar synostosis || Hip dislocation || Lower extremity joint dislocation
Concanavalin A-like lectins/glucanases	0.1237	INHERITED FROM: Small epiphyses || Abnormality of lower limb epiphysis morphology || Abnormality of femoral epiphysis || Epiphyseal dysplasia
HMG-box	0.1257	INHERITED FROM: Aplasia/Hypoplasia of the phalanges of the 5th toe || Aplasia/Hypoplasia of the distal phalanx of the 5th finger || Abnormality of the distal phalanx of the 5th finger || Aplasia/Hypoplasia of the distal phalanx of the 5th toe || Abnormality of the phalanges of the 5th toe || Abnormality of the distal phalanx of the 5th toe || Butterfly vertebrae
Calponin-homology domain, CH-domain	0.1257	INHERITED FROM: Contractures of the joints of the lower limbs || Scapular winging || Pectus excavatum || Decreased cervical spine flexion due to contractures of posterior cervical muscles
p53-like transcription factors	0.1405	INHERITED FROM: Hypoplastic scapulae || Absent hand
Myosin rod fragments	0.1447	INHERITED FROM: Scapular winging
Histone-fold	0.1447	INHERITED FROM: Abnormality of the ulna || Synostosis of joints || Abnormality of the radius || Synostosis involving bones of the upper limbs
ARID-like	0.1447	INHERITED FROM: Abnormality of the intervertebral disk || Aplasia/Hypoplasia of the phalanges of the 5th toe || Aplasia/Hypoplasia of fingers || Aplasia/hypoplasia involving bones of the hand || Elbow dislocation || Abnormality of the distal phalanges of the toes || Aplasia/Hypoplasia of the 5th toe || Abnormal distal phalanx morphology of finger || Coxa valga || Abnormality of the posterior cranial fossa || Widened posterior fossa || Absent toe || Aplasia/Hypoplasia of the distal phalanx of the 5th finger || Abnormality of the femoral neck or head region || Short phalanx of finger || Abnormality of the distal phalanx of the 5th finger || Abnormal patella morphology || Aplasia/Hypoplasia involving bones of the feet || Dandy-Walker malformation || Upper extremity joint dislocation || Abnormality of the phalanges of the toes || Abnormal 5th finger phalanx morphology || Aplasia/Hypoplasia of the distal phalanges of the hand || Aplasia/hypoplasia involving bones of the lower limbs || Aplasia/Hypoplasia of the distal phalanx of the 5th toe || Abnormality of the 5th toe || Aplasia/Hypoplasia of the phalanges of the hand || Abnormality of the phalanges of the 5th toe || Abnormality of the distal phalanx of the 5th toe || Aplasia/Hypoplasia of the distal phalanges of the toes || Abnormality of the femoral neck || Joint hyperflexibility || Short finger || Short distal phalanx of finger
Spectrin repeat	0.18	INHERITED FROM: Abnormality of the Achilles tendon || Achilles tendon contracture || Decreased cervical spine flexion due to contractures of posterior cervical muscles
Bromodomain	0.18	INHERITED FROM: Joint hypermobility || Abnormal patella morphology || Delayed skeletal maturation
Hemopexin-like domain	0.1886	INHERITED FROM: Arthritis || Arthropathy || Metaphyseal widening
Multidrug efflux transporter AcrB transmembrane domain	0.2002	INHERITED FROM: Abnormal distal phalanx morphology of finger || Short phalanx of finger || Aplasia/Hypoplasia of the distal phalanges of the hand || Aplasia/Hypoplasia of the phalanges of the hand || Short finger || Short distal phalanx of finger
FnI-like domain	0.2217	INHERITED FROM: Coxa vara || Abnormality of the femoral neck || Abnormality of the epiphysis of the femoral head
PGBD-like	0.2449	INHERITED FROM: Metaphyseal widening
MHC antigen-recognition domain	0.2631	INHERITED FROM: Chest pain
Metalloproteases ("zincins"), catalytic domain	0.2649	INHERITED FROM: Broad metacarpals
Arginase/deacetylase	0.277	INHERITED FROM: Aplasia/Hypoplasia involving bones of the feet || Aplasia/hypoplasia involving bones of the lower limbs || Short foot
Insulin-like	0.277	INHERITED FROM: Deviation of finger
GLA-domain	0.3153	INHERITED FROM: Joint hemorrhage
ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase	0.3268	INHERITED FROM: Neoplasm of the skeletal system
Alkaline phosphatase-like	0.3865	INHERITED FROM: Dysostosis multiplex || Abnormal form of the vertebral bodies
"Winged helix" DNA-binding domain	0.3886	INHERITED FROM: Retrognathia
Galactose-binding domain-like	0.4096	INHERITED FROM: Hypoplasia of the odontoid process
HLH, helix-loop-helix DNA-binding domain	0.4522	INHERITED FROM: Abnormality of the phalanges of the 2nd finger || Prominent occiput
Tropomyosin	0.4875	INHERITED FROM: Limited hip movement || Elbow flexion contracture || Abnormality of the hip joint || Scapular winging || Abnormality of the synovia || Knee flexion contracture || Hip dislocation || Lower extremity joint dislocation || Congenital contracture || Hip contracture
Troponin coil-coiled subunits	0.508	INHERITED FROM: Contractures of the joints of the upper limbs
Immunoglobulin	0.5156	INHERITED FROM: Abnormality of the middle phalanges of the toes || Short middle phalanx of toe
Trypsin-like serine proteases	0.538	INHERITED FROM: Joint hemorrhage
Fibrinogen C-terminal domain-like	0.5512	INHERITED FROM: Joint swelling
(Trans)glycosidases	0.5586	INHERITED FROM: Abnormality of the odontoid process || Dysostosis multiplex || Anterior beaking of lumbar vertebrae || Aplasia/Hypoplasia involving the vertebral column
NagB/RpiA/CoA transferase-like	0.5841	INHERITED FROM: Cessation of head growth
UDP-Glycosyltransferase/glycogen phosphorylase	0.6006	INHERITED FROM: Scapular winging
Neurotransmitter-gated ion-channel transmembrane pore	0.6442	INHERITED FROM: Abnormal cervical curvature || Abnormality of the thoracic spine || Thoracic kyphoscoliosis || Thoracic scoliosis || Multiple pterygia
Nicotinic receptor ligand binding domain-like	0.6442	INHERITED FROM: Abnormal cervical curvature || Abnormality of the thoracic spine || Thoracic kyphoscoliosis || Thoracic scoliosis || Multiple pterygia
vWA-like	0.6469	INHERITED FROM: Finger joint hypermobility || Narrow iliac wings || Hyperextensibility at wrists || Distal joint laxity || Increased laxity of fingers || Increased laxity of ankles || Ankle flexion contracture || Abnormality of hand joint mobility || Long toe
DEATH domain	0.6937	INHERITED FROM: Polyarticular arthropathy || Arthritis
Class II aaRS and biotin synthetases	0.7551	INHERITED FROM: Hammertoe
MIR domain	0.8189	INHERITED FROM: Multiple joint contractures || Lumbar hyperlordosis
Cytochrome P450	0.8373	INHERITED FROM: Delayed epiphyseal ossification
Voltage-gated potassium channels	0.9886	INHERITED FROM: Talipes valgus || Tibial torsion || Limited knee extension

Family

Highlighted in gray are those with FDR_all>0.001

SCOP term	FDR (all)	Annotation (direct or inherited)
CCCH zinc finger	0	DIRECT
Zn-finger domain of Sec23/24	0	DIRECT
CalX-beta domain	0	DIRECT
Proteasome subunits	0	DIRECT
Amylase, catalytic domain	0	DIRECT
Myotubularin-like phosphatases	0	DIRECT
Double-stranded RNA-binding domain (dsRBD)	0	DIRECT
Ferredoxin domains from multidomain proteins	0	DIRECT
Filamin repeat (rod domain)	0	DIRECT
Protein serine/threonine phosphatase	0	DIRECT
C-terminal, gelsolin-like domain of Sec23/24	0	DIRECT
L27 domain	0	DIRECT
Helical domain of Sec23/24	0	DIRECT
N-acetyl transferase, NAT	0	DIRECT
alpha-Amylases, C-terminal beta-sheet domain	0	DIRECT
Clathrin adaptor core protein	0	DIRECT
Glycosyl transferases group 1	0	DIRECT
SNARE fusion complex	0	DIRECT
BRK domain-like	0	DIRECT
SWIRM domain	0	DIRECT
tRNA-intron endonuclease catalytic domain-like	0	DIRECT
Notch domain	0	DIRECT
Smc hinge domain	0	DIRECT
XPF/Rad1/Mus81 nuclease	0	DIRECT
FKBP immunophilin/proline isomerase	0	DIRECT
Histone deacetylase, HDAC	0	DIRECT
Regulator of chromosome condensation RCC1	0	DIRECT
Hect, E3 ligase catalytic domain	0	DIRECT
Ribonuclease PH domain 1-like	0	DIRECT
Long-chain cytokines	0	DIRECT
Plakin repeat	0	DIRECT
C5 cytosine-specific DNA methylase, DCM	0	DIRECT
Ubiquitin carboxyl-terminal hydrolase, UCH	0	DIRECT
Exostosin	0	DIRECT
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain	0	DIRECT
Inositol polyphosphate 5-phosphatase (IPP5)	0	DIRECT
Small Kunitz-type inhibitors & BPTI-like toxins	0	DIRECT
Ferredoxin reductase FAD-binding domain-like	0	DIRECT
Ribonuclease PH domain 2-like	0	DIRECT
Osteonectin	0	DIRECT
TB module/8-cys domain	0	DIRECT
beta-sandwich domain of Sec23/24	0	DIRECT
Neutral endopeptidase (neprilysin)	0	DIRECT
Trunk domain of Sec23/24	0	DIRECT
Fibrinogen coiled-coil and central regions	0	DIRECT
DNA polymerase I	0	DIRECT
IF2B-like	0	DIRECT
Classic zinc finger, C2H2	0.002957	INHERITED FROM: Hand polydactyly
Tetratricopeptide repeat (TPR)	0.01739	INHERITED FROM: Postaxial polydactyly
PHD domain	0.01739	INHERITED FROM: Radioulnar synostosis || Abnormality of calvarial morphology || Microcephaly
Histone lysine methyltransferases	0.02638	INHERITED FROM: Abnormality of the hip bone || Abnormality of skull size || Hip dislocation || Lower extremity joint dislocation
Actin/HSP70	0.03868	INHERITED FROM: Abnormal appendicular skeleton morphology || Abnormality of limb bone || Abnormality of limb bone morphology || Abnormality of finger || Short neck
G proteins	0.0674	INHERITED FROM: Biparietal narrowing || Cranial asymmetry || Enlarged thorax
Erythroid transcription factor GATA-1	0.08148	INHERITED FROM: Abnormal digit morphology || Clinodactyly of the 5th finger || Brachydactyly || Abnormality of calvarial morphology || Abnormality of finger || Finger clinodactyly
Class I aminoacyl-tRNA synthetases (RS), catalytic domain	0.0902	INHERITED FROM: Decreased head circumference
Calponin-homology domain, CH-domain	0.09797	INHERITED FROM: Contractures of the joints of the lower limbs || Abnormality of the Achilles tendon || Scapular winging || Pectus excavatum || Decreased cervical spine flexion due to contractures of posterior cervical muscles
HMG-box	0.09797	INHERITED FROM: Aplasia/Hypoplasia of the phalanges of the 5th toe || Aplasia/Hypoplasia of the distal phalanx of the 5th finger || Abnormality of the distal phalanx of the 5th finger || Aplasia/Hypoplasia of the distal phalanx of the 5th toe || Abnormality of the phalanges of the 5th toe || Abnormality of the distal phalanx of the 5th toe || Butterfly vertebrae
C1 set domains (antibody constant domain-like)	0.1035	INHERITED FROM: Abnormality of the paranasal sinuses || Chest pain
Homeodomain	0.1067	INHERITED FROM: Encephalocele || Decreased cervical spine mobility || Aplasia/Hypoplasia of the 2nd finger || Localized osteoporosis || Osteoporosis of vertebrae || Large fontanelles
Myosin rod fragments	0.1159	INHERITED FROM: Scapular winging || Hip dislocation
Globins	0.1167	INHERITED FROM: Abnormality of malar bones
ARID domain	0.1167	INHERITED FROM: Abnormality of the intervertebral disk || Short digit || Aplasia/Hypoplasia of the phalanges of the 5th toe || Aplasia/Hypoplasia of fingers || Aplasia/hypoplasia involving bones of the hand || Elbow dislocation || Abnormality of the distal phalanges of the toes || Aplasia/Hypoplasia of the 5th toe || Abnormal distal phalanx morphology of finger || Coxa valga || Abnormality of the posterior cranial fossa || Widened posterior fossa || Absent toe || Decreased head circumference || Aplasia/Hypoplasia of the distal phalanx of the 5th finger || Abnormality of the femoral neck or head region || Short phalanx of finger || Abnormality of the distal phalanx of the 5th finger || Abnormal patella morphology || Abnormality of the skull base || Aplasia/Hypoplasia involving bones of the feet || Dandy-Walker malformation || Upper extremity joint dislocation || Abnormality of the phalanges of the toes || Abnormal 5th finger phalanx morphology || Aplasia/Hypoplasia of the distal phalanges of the hand || Aplasia/hypoplasia involving bones of the upper limbs || Aplasia/hypoplasia involving bones of the lower limbs || Aplasia/Hypoplasia of the distal phalanx of the 5th toe || Abnormality of the 5th toe || Aplasia/Hypoplasia of the phalanges of the hand || Abnormality of the phalanges of the 5th toe || Abnormality of the distal phalanx of the 5th toe || Aplasia/Hypoplasia of the distal phalanges of the toes || Abnormality of the femoral neck || Abnormality of upper limb joint || Joint hyperflexibility || Short finger || Microcephaly || Short distal phalanx of finger
Laminin-type module	0.1349	INHERITED FROM: Abnormality of dental enamel
Spectrin repeat	0.1459	INHERITED FROM: Abnormality of the Achilles tendon || Achilles tendon contracture || Decreased cervical spine flexion due to contractures of posterior cervical muscles
Bromodomain	0.1459	INHERITED FROM: Joint hypermobility || Abnormal patella morphology || Sacrococcygeal pilonidal abnormality || Sacral dimple || Microcephaly || Delayed skeletal maturation
Elongation factors	0.1545	INHERITED FROM: Decreased head circumference || Microcephaly
Hemopexin-like domain	0.1545	INHERITED FROM: Arthritis || Arthropathy || Metaphyseal widening || Abnormality of the femoral neck
DNA gyrase/MutL, second domain	0.1664	INHERITED FROM: Neoplasm of the skeletal system || Flexion contracture || Abnormal tendon morphology
DNA gyrase/MutL, N-terminal domain	0.1664	INHERITED FROM: Neoplasm of the skeletal system || Flexion contracture || Abnormal tendon morphology
TBP-associated factors, TAFs	0.1664	INHERITED FROM: Delayed skeletal maturation
Transforming growth factor (TGF)-beta	0.189	INHERITED FROM: Abnormal middle phalanx morphology of the hand || Spondylolisthesis || Short middle phalanx of finger || Aplasia/Hypoplasia of the middle phalanges of the hand
Growth factor receptor domain	0.1911	INHERITED FROM: Bowing of the arm
Matrix metalloproteases, catalytic domain	0.2062	INHERITED FROM: Metaphyseal widening
MMP N-terminal domain	0.2062	INHERITED FROM: Metaphyseal widening
MHC antigen-recognition domain	0.2226	INHERITED FROM: Chest pain
ZZ domain	0.2376	INHERITED FROM: Clinodactyly || Syndactyly
beta-glycanases	0.2376	INHERITED FROM: Abnormal vertebral morphology || Kyphosis
Insulin-like	0.2376	INHERITED FROM: Clinodactyly || Deviation of finger
GLA-domain	0.273	INHERITED FROM: Joint hemorrhage
VWC domain	0.273	INHERITED FROM: Long fingers || Abnormality of the hip joint || Abnormality of pelvic girdle bone morphology || Osteoarthritis || Hip dislocation || Enlarged thorax || Lower extremity joint dislocation || Slender finger || Joint hyperflexibility
RecA protein-like (ATPase-domain)	0.2829	INHERITED FROM: Forearm undergrowth || Aplasia/Hypoplasia of the radius || Aplasia/Hypoplasia of the ulna || Toe syndactyly || Hypoplasia of the ulna || Abnormal forearm bone morphology || Triangular shaped phalanges of the hand || Abnormality of thumb phalanx || Hip dislocation || Clubbing || Dolichocephaly || Clubbing of toes || Triphalangeal thumb || Abnormal morphology of ulna
Integrin A (or I) domain	0.3291	INHERITED FROM: Spinal rigidity || Adducted thumb || Interphalangeal joint contracture of finger || Finger joint hypermobility || Hyperextensibility at wrists || Distal joint laxity || Increased laxity of fingers || Increased laxity of ankles || Camptodactyly || Ankle flexion contracture || Flexion contracture of finger || Contractures of the joints of the upper limbs || Abnormal phalangeal joint morphology of the hand || Abnormality of hand joint mobility || Long toe
Ras-binding domain, RBD	0.3583	INHERITED FROM: Abnormality of the sternum || Joint hyperflexibility
HLH, helix-loop-helix DNA-binding domain	0.4005	INHERITED FROM: Abnormality of the phalanges of the 2nd finger || Prominent occiput
Tropomyosin	0.4424	INHERITED FROM: Limited hip movement || Contractures of the joints of the lower limbs || Elbow flexion contracture || Abnormality of the hip joint || Scapular winging || Abnormality of the synovia || Knee flexion contracture || Hip dislocation || Lower extremity joint dislocation || Congenital contracture || Hip contracture
Fibronectin type II module	0.4634	INHERITED FROM: Abnormality of the metaphysis
Fibrinogen C-terminal domain-like	0.5052	INHERITED FROM: Joint swelling
Arylsulfatase	0.5052	INHERITED FROM: Ovoid vertebral bodies || Dysostosis multiplex || Abnormality of the ribs
Class II aminoacyl-tRNA synthetase (aaRS)-like, catalytic domain	0.5993	INHERITED FROM: Hammertoe
Neurotransmitter-gated ion-channel transmembrane pore	0.5993	INHERITED FROM: Abnormal cervical curvature || Abnormality of the thoracic spine || Pterygium || Thoracic kyphoscoliosis || Thoracic scoliosis || Multiple pterygia
Nicotinic receptor ligand binding domain-like	0.5993	INHERITED FROM: Abnormal cervical curvature || Abnormality of the thoracic spine || Pterygium || Thoracic kyphoscoliosis || Thoracic scoliosis || Multiple pterygia
Eukaryotic proteases	0.718	INHERITED FROM: Joint hemorrhage
Transducin (alpha subunit), insertion domain	0.7258	INHERITED FROM: Cerebral calcification
I set domains	0.7518	INHERITED FROM: Abnormality of the tarsal bones || Abnormality of the middle phalanges of the toes || Cloverleaf skull || Aplasia of the phalanges of the hand || Short middle phalanx of toe || Aplasia involving bones of the upper limbs || Aplasia involving bones of the extremities
TSP-1 type 1 repeat	0.7725	INHERITED FROM: Abnormality of femoral epiphysis || Abnormality of the epiphysis of the femoral head
MIR domain	0.7898	INHERITED FROM: Hyperlordosis || Multiple joint contractures || Lumbar hyperlordosis
Cadherin	0.8622	INHERITED FROM: Hypoplasia of the maxilla
Rhodopsin-like	1	INHERITED FROM: Generalized joint laxity

Supra-domain (Single|Duplex|Triple)

Supra-domain (Single)

Highlighted in gray are those with FDR>0.001

Supra-domain (Single)	FDR (all)	Annotation (direct or inherited)
RuvA domain 2-like	0	DIRECT
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain	0	DIRECT
L27 domain	0	DIRECT
HCP-like	0	DIRECT
tRNA-intron endonuclease catalytic domain-like	0	DIRECT
Restriction endonuclease-like	0	DIRECT
Saposin	0	DIRECT
SAND domain-like	0	DIRECT
4Fe-4S ferredoxins	0	DIRECT
Helical domain of Sec23/24	0	DIRECT
Metallo-dependent phosphatases	0	DIRECT
GroEL equatorial domain-like	0	DIRECT
Smc hinge domain	0	DIRECT
CalX-like	0	DIRECT
BRK domain-like	0	DIRECT
ADC-like	0	DIRECT
DPP6 N-terminal domain-like	0	DIRECT
Zn-finger domain of Sec23/24	0	DIRECT
Rhodanese/Cell cycle control phosphatase	0	DIRECT
HIT-like	0	DIRECT
Fibrinogen coiled-coil and central regions	0	DIRECT
Plakin repeat	0	DIRECT
BPTI-like	0	DIRECT
CCCH zinc finger	0	DIRECT
FKBP-like	0	DIRECT
SNARE fusion complex	0	DIRECT
DNase I-like	0	DIRECT
Glycerol-3-phosphate (1)-acyltransferase	0	DIRECT
PUA domain-like	0	DIRECT
FAD-linked oxidases, C-terminal domain	0	DIRECT
C-terminal, gelsolin-like domain of Sec23/24	0	DIRECT
Pseudouridine synthase	0	DIRECT
Notch domain	0	DIRECT
Hect, E3 ligase catalytic domain	0	DIRECT
Acyl-CoA N-acyltransferases (Nat)	0	DIRECT
Ribonuclease PH domain 2-like	0	DIRECT
TB module/8-cys domain	0	DIRECT
Tricorn protease domain 2	0	DIRECT
Nucleotide-diphospho-sugar transferases	0.002398	INHERITED FROM: Abnormality of the curvature of the vertebral column || Abnormality of the radius || Macrocephaly
Actin-like ATPase domain	0.002401	INHERITED FROM: Prominent metopic ridge
Ribonuclease H-like	0.04646	INHERITED FROM: Progressive microcephaly
beta-sandwich domain of Sec23/24	0.05672	INHERITED FROM: Abnormality of the curvature of the vertebral column || Abnormality of cranial sutures || Scoliosis || Abnormality of the vertebral column
Homeodomain-like	0.07247	INHERITED FROM: Localized osteoporosis || Large fontanelles || Decreased cervical spine mobility || Osteoporosis of vertebrae
N-terminal nucleophile aminohydrolases (Ntn hydrolases)	0.08188	INHERITED FROM: Finger swelling
GST C-terminal domain-like	0.08188	INHERITED FROM: Kyphoscoliosis
WD40 repeat-like	0.08651	INHERITED FROM: Short thorax || Duplication involving bones of the feet || Abnormally ossified vertebrae || Absent or minimally ossified vertebral bodies || Short ribs || Hand polydactyly || Abnormal pelvis bone ossification || Widened posterior fossa || Lethal skeletal dysplasia || Abnormality of limb bone morphology || Thoracic dysplasia || Foot polydactyly
Cystine-knot cytokines	0.0899	INHERITED FROM: Synostosis involving bones of the feet || Short hallux || Abnormal middle phalanx morphology of the hand || Tarsal synostosis || Aplasia/Hypoplasia of the middle phalanges of the hand || Abnormality of the middle phalanx of the 5th finger || Spondylolisthesis || Aplasia/Hypoplasia of the hallux || Abnormal 5th finger phalanx morphology || Vertebral fusion
Ribosomal protein S5 domain 2-like	0.09221	INHERITED FROM: Neoplasm of the skeletal system || Flexion contracture
SET domain	0.09221	INHERITED FROM: Hip dislocation || Radioulnar synostosis || Abnormality of the hip bone || Lower extremity joint dislocation || Abnormality of pelvic girdle bone morphology
Concanavalin A-like lectins/glucanases	0.09893	INHERITED FROM: Abnormality of lower limb epiphysis morphology || Abnormality of femoral epiphysis || Irregular vertebral endplates || Small epiphyses || Epiphyseal dysplasia || Platyspondyly
Calponin-homology domain, CH-domain	0.1008	INHERITED FROM: Contractures of the joints of the lower limbs || Pectus excavatum || Decreased cervical spine flexion due to contractures of posterior cervical muscles || Scapular winging
HMG-box	0.1008	INHERITED FROM: Aplasia/Hypoplasia of the phalanges of the 5th toe || Butterfly vertebrae || Aplasia/Hypoplasia of the distal phalanx of the 5th finger || Abnormality of the distal phalanx of the 5th finger || Aplasia/Hypoplasia of the distal phalanx of the 5th toe || Abnormality of the distal phalanx of the 5th toe || Abnormality of the phalanges of the 5th toe
p53-like transcription factors	0.114	INHERITED FROM: Short clavicles || Absent hand || Hypoplastic scapulae
TPR-like	0.1171	INHERITED FROM: Postaxial polydactyly
ARID-like	0.1178	INHERITED FROM: Short finger || Short digit || Aplasia/hypoplasia involving bones of the upper limbs || Abnormality of the femoral neck or head region || Abnormal patella morphology || Aplasia/Hypoplasia of the patella || Aplasia/Hypoplasia of the phalanges of the 5th toe || Aplasia/Hypoplasia of the distal phalanx of the 5th finger || Abnormality of the distal phalanx of the 5th finger || Aplasia/hypoplasia involving bones of the hand || Aplasia/hypoplasia involving bones of the lower limbs || Aplasia/Hypoplasia of fingers || Abnormal distal phalanx morphology of finger || Joint hyperflexibility || Elbow dislocation || Abnormality of the intervertebral disk || Abnormality of the skull base || Abnormality of the 5th toe || Absent toe || Short phalanx of finger || Abnormality of the femoral neck || Upper extremity joint dislocation || Aplasia/Hypoplasia of the distal phalanx of the 5th toe || Aplasia/Hypoplasia of the phalanges of the hand || Abnormality of the distal phalanx of the 5th toe || Abnormality of the phalanges of the 5th toe || Widened posterior fossa || Aplasia/Hypoplasia of the distal phalanges of the toes || Abnormality of the posterior cranial fossa || Aplasia/Hypoplasia of the distal phalanges of the hand || Dandy-Walker malformation || Abnormality of upper limb joint || Abnormality of the distal phalanges of the toes || Abnormal 5th finger phalanx morphology || Aplasia/Hypoplasia of the 5th toe || Abnormality of the phalanges of the toes || Short distal phalanx of finger || Aplasia/Hypoplasia involving bones of the feet || Coxa valga
Globin-like	0.1178	INHERITED FROM: Abnormality of malar bones
Histone-fold	0.1178	INHERITED FROM: Abnormality of the radius || Abnormality of forearm bone || Abnormality of the ulna || Synostosis of joints || Synostosis involving bones of the upper limbs
Myosin rod fragments	0.1178	INHERITED FROM: Hip dislocation || Scapular winging
Spectrin repeat	0.1489	INHERITED FROM: Abnormality of the Achilles tendon || Achilles tendon contracture || Decreased cervical spine flexion due to contractures of posterior cervical muscles
Bromodomain	0.1489	INHERITED FROM: Abnormal patella morphology || Sacral dimple || Microcephaly || Delayed skeletal maturation || Sacrococcygeal pilonidal abnormality || Joint hypermobility
Hemopexin-like domain	0.1568	INHERITED FROM: Metaphyseal widening || Arthritis || Abnormality of the femoral neck || Arthropathy
Multidrug efflux transporter AcrB transmembrane domain	0.1675	INHERITED FROM: Short finger || Aplasia/Hypoplasia of fingers || Abnormal distal phalanx morphology of finger || Short phalanx of finger || Aplasia/Hypoplasia of the phalanges of the hand || Aplasia/Hypoplasia of the distal phalanges of the hand || Short distal phalanx of finger
FnI-like domain	0.1872	INHERITED FROM: Abnormality of the epiphysis of the femoral head || Abnormality of the femoral neck or head region || Abnormality of the femoral neck || Coxa vara
PGBD-like	0.2086	INHERITED FROM: Metaphyseal widening
MHC antigen-recognition domain	0.2254	INHERITED FROM: Chest pain
Metalloproteases ("zincins"), catalytic domain	0.227	INHERITED FROM: Broad metacarpals
Arginase/deacetylase	0.2385	INHERITED FROM: Aplasia/hypoplasia involving bones of the hand || Aplasia/hypoplasia involving bones of the lower limbs || Short foot || Aplasia/Hypoplasia involving bones of the feet
Insulin-like	0.2385	INHERITED FROM: Deviation of finger || Clinodactyly
GLA-domain	0.2747	INHERITED FROM: Joint hemorrhage
ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase	0.2858	INHERITED FROM: Neoplasm of the skeletal system
Cysteine proteinases	0.3075	INHERITED FROM: Clinodactyly of the 2nd toe
Alkaline phosphatase-like	0.3433	INHERITED FROM: Abnormality of the ribs || Dysostosis multiplex || Abnormal form of the vertebral bodies
"Winged helix" DNA-binding domain	0.3454	INHERITED FROM: Retrognathia
Galactose-binding domain-like	0.3661	INHERITED FROM: Hypoplasia of the odontoid process
HLH, helix-loop-helix DNA-binding domain	0.4085	INHERITED FROM: Prominent occiput || Abnormality of the phalanges of the 2nd finger
Tropomyosin	0.4435	INHERITED FROM: Hip contracture || Contractures of the joints of the lower limbs || Hip dislocation || Elbow flexion contracture || Limited hip movement || Lower extremity joint dislocation || Congenital contracture || Knee flexion contracture || Abnormality of the hip joint || Scapular winging || Abnormality of the synovia
Troponin coil-coiled subunits	0.4637	INHERITED FROM: Contractures of the joints of the upper limbs
Immunoglobulin	0.4711	INHERITED FROM: Short middle phalanx of toe || Abnormality of the middle phalanges of the toes || Bone cyst
Trypsin-like serine proteases	0.494	INHERITED FROM: Joint hemorrhage
Protein kinase-like (PK-like)	0.4983	INHERITED FROM: Aplasia/hypoplasia involving the skeleton || Abnormality of limb bone
Fibrinogen C-terminal domain-like	0.5075	INHERITED FROM: Joint swelling
(Trans)glycosidases	0.515	INHERITED FROM: Beaking of vertebral bodies || Aplasia/Hypoplasia involving the vertebral column || Anterior beaking of lumbar vertebrae || Dysostosis multiplex || Abnormality of the odontoid process
NagB/RpiA/CoA transferase-like	0.5413	INHERITED FROM: Cessation of head growth
UDP-Glycosyltransferase/glycogen phosphorylase	0.5581	INHERITED FROM: Scapular winging
Neurotransmitter-gated ion-channel transmembrane pore	0.6033	INHERITED FROM: Thoracic scoliosis || Multiple pterygia || Thoracic kyphoscoliosis || Abnormality of the thoracic spine || Pterygium || Abnormal cervical curvature
Nicotinic receptor ligand binding domain-like	0.6033	INHERITED FROM: Thoracic scoliosis || Multiple pterygia || Thoracic kyphoscoliosis || Abnormality of the thoracic spine || Pterygium || Abnormal cervical curvature
vWA-like	0.6062	INHERITED FROM: Ankle flexion contracture || Narrow iliac wings || Finger joint hypermobility || Slender finger || Increased laxity of fingers || Hyperextensibility at wrists || Distal joint laxity || Abnormality of hand joint mobility || Long toe || Increased laxity of ankles
DEATH domain	0.6548	INHERITED FROM: Arthritis || Polyarticular arthropathy
Class II aaRS and biotin synthetases	0.7181	INHERITED FROM: Hammertoe
Transducin (alpha subunit), insertion domain	0.723	INHERITED FROM: Cerebral calcification
MIR domain	0.7847	INHERITED FROM: Multiple joint contractures || Lumbar hyperlordosis || Hyperlordosis
Cytochrome P450	0.8042	INHERITED FROM: Delayed epiphyseal ossification
Voltage-gated potassium channels	0.9671	INHERITED FROM: Tibial torsion || Talipes valgus || Limited knee extension

Supra-domain (Duplex) in N- to C-terminal order

Highlighted in gray are those with FDR>0.001

Supra-domain (Duplex) in N- to C-terminal order	FDR (all)	Annotation (direct or inherited)
82919,53300 82919 - Zn-finger domain of Sec23/24 53300 - vWA-like	0	DIRECT
57184,57184 57184 - Growth factor receptor domain 57184 - Growth factor receptor domain	0	DIRECT
103473,100895 103473 - MFS general substrate transporter 100895 - Kazal-type serine protease inhibitors	0	DIRECT
57184,57581 57184 - Growth factor receptor domain 57581 - TB module/8-cys domain	0	DIRECT
-7,56112 -7 - CATH 56112 - Protein kinase-like (PK-like)	0	DIRECT
54768,54768 54768 - dsRNA-binding domain-like 54768 - dsRNA-binding domain-like	0	DIRECT
57889,48350 57889 - Cysteine-rich domain 48350 - GTPase activation domain, GAP	0	DIRECT
64268,50044 64268 - PX domain 50044 - SH3-domain	0	DIRECT
57196,90193 57196 - EGF/Laminin 90193 - Notch domain	0	DIRECT
141072,141072 141072 - CalX-like 141072 - CalX-like	0	DIRECT
53300,81995 53300 - vWA-like 81995 - beta-sandwich domain of Sec23/24	0	DIRECT
81811,82754 81811 - Helical domain of Sec23/24 82754 - C-terminal, gelsolin-like domain of Sec23/24	0	DIRECT
56176,55103 56176 - FAD-binding/transporter-associated domain-like 55103 - FAD-linked oxidases, C-terminal domain	0	DIRECT
54211,55666 54211 - Ribosomal protein S5 domain 2-like 55666 - Ribonuclease PH domain 2-like	0	DIRECT
63380,52343 63380 - Riboflavin synthase domain-like 52343 - Ferredoxin reductase-like, C-terminal NADP-linked domain	0	DIRECT
50447,50465 50447 - Translation proteins 50465 - EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain	0	DIRECT
57581,57184 57581 - TB module/8-cys domain 57184 - Growth factor receptor domain	0	DIRECT
50156,50044 50156 - PDZ domain-like 50044 - SH3-domain	0	DIRECT
57581,57196 57581 - TB module/8-cys domain 57196 - EGF/Laminin	0	DIRECT
75399,75399 75399 - Plakin repeat 75399 - Plakin repeat	0	DIRECT
57196,57581 57196 - EGF/Laminin 57581 - TB module/8-cys domain	0	DIRECT
57850,57845 57850 - RING/U-box 57845 - B-box zinc-binding domain	0	DIRECT
53098,56672 53098 - Ribonuclease H-like 56672 - DNA/RNA polymerases	0	DIRECT
47060,55681 47060 - S15/NS1 RNA-binding domain 55681 - Class II aaRS and biotin synthetases	0	DIRECT
103575,48726 103575 - Plexin repeat 48726 - Immunoglobulin	0	DIRECT
53822,53850 53822 - Periplasmic binding protein-like I 53850 - Periplasmic binding protein-like II	0	DIRECT
49265,48726 49265 - Fibronectin type III 48726 - Immunoglobulin	0	DIRECT
81995,81811 81995 - beta-sandwich domain of Sec23/24 81811 - Helical domain of Sec23/24	0	DIRECT
57903,57903 57903 - FYVE/PHD zinc finger 57903 - FYVE/PHD zinc finger	0	DIRECT
52980,47781 52980 - Restriction endonuclease-like 47781 - RuvA domain 2-like	0	DIRECT
53067,53067 53067 - Actin-like ATPase domain 53067 - Actin-like ATPase domain	0.005614	INHERITED FROM: Large fontanelles || Prominent metopic ridge
57667,57667 57667 - beta-beta-alpha zinc fingers 57667 - beta-beta-alpha zinc fingers	0.02	INHERITED FROM: Hand polydactyly
57196,57196 57196 - EGF/Laminin 57196 - EGF/Laminin	0.02385	INHERITED FROM: Interphalangeal joint contracture of finger || Contractures of the joints of the upper limbs || Kyphoscoliosis || Abnormality of dental enamel
48452,48452 48452 - TPR-like 48452 - TPR-like	0.03402	INHERITED FROM: Postaxial polydactyly
49899,57196 49899 - Concanavalin A-like lectins/glucanases 57196 - EGF/Laminin	0.08188	INHERITED FROM: Arthrogryposis multiplex congenita || Thoracic hypoplasia || Narrow chest
57196,57184 57196 - EGF/Laminin 57184 - Growth factor receptor domain	0.1059	INHERITED FROM: Short finger || Encephalocele || Abnormality of calvarial morphology || Brachydactyly || Absent toe || Short phalanx of finger || Abnormal form of the vertebral bodies
81296,81296 81296 - E set domains 81296 - E set domains	0.1178	INHERITED FROM: Abnormality of fibula morphology || Aplasia/Hypoplasia involving the metacarpal bones || Abnormality of the radius || Abnormality of forearm bone || Abnormality of the ulna || Short long bone || Abnormal metacarpal morphology || Aplasia/Hypoplasia of the fibula
54160,52540 54160 - Chromo domain-like 52540 - P-loop containing nucleoside triphosphate hydrolases	0.1178	INHERITED FROM: Macrocephaly
54160,54160 54160 - Chromo domain-like 54160 - Chromo domain-like	0.1178	INHERITED FROM: Macrocephaly
52540,50447 52540 - P-loop containing nucleoside triphosphate hydrolases 50447 - Translation proteins	0.1568	INHERITED FROM: Microcephaly || Decreased head circumference
47986,52540 47986 - DEATH domain 52540 - P-loop containing nucleoside triphosphate hydrolases	0.1675	INHERITED FROM: Arthritis
53300,53300 53300 - vWA-like 53300 - vWA-like	0.1675	INHERITED FROM: Ankle flexion contracture || Flexion contracture of finger || Flexion contracture of digit || Spinal rigidity || Camptodactyly || Finger joint hypermobility || Contractures of the joints of the lower limbs || Joint contracture of the hand || Hip dislocation || Elbow flexion contracture || Slender finger || Adducted thumb || Increased laxity of fingers || Multiple joint contractures || Hyperextensibility at wrists || Joint laxity || Interphalangeal joint contracture of finger || Lower extremity joint dislocation || Contractures of the joints of the upper limbs || Abnormality of the elbow || Camptodactyly of finger || Abnormality of the ankles || Abnormal phalangeal joint morphology of the hand || Distal joint laxity || Abnormal thumb morphology || Abnormality of hand joint mobility || Limited elbow movement || Joint stiffness || Abnormality of the knee || Knee flexion contracture || Long toe || Short neck || Abnormality of the hip joint || Joint hypermobility || Increased laxity of ankles
55874,54211 55874 - ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase 54211 - Ribosomal protein S5 domain 2-like	0.1675	INHERITED FROM: Neoplasm of the skeletal system || Abnormal tendon morphology || Flexion contracture
47090,55486 47090 - PGBD-like 55486 - Metalloproteases ("zincins"), catalytic domain	0.2086	INHERITED FROM: Metaphyseal widening
54452,48726 54452 - MHC antigen-recognition domain 48726 - Immunoglobulin	0.2254	INHERITED FROM: Chest pain
46966,46966 46966 - Spectrin repeat 46966 - Spectrin repeat	0.2333	INHERITED FROM: Contractures of the joints of the lower limbs || Abnormality of the Achilles tendon || Achilles tendon contracture || Decreased cervical spine flexion due to contractures of posterior cervical muscles
57630,57196 57630 - GLA-domain 57196 - EGF/Laminin	0.2385	INHERITED FROM: Joint hemorrhage
82199,57667 82199 - SET domain 57667 - beta-beta-alpha zinc fingers	0.2385	INHERITED FROM: Abnormality of the hip bone || Hip dysplasia
48726,48726 48726 - Immunoglobulin 48726 - Immunoglobulin	0.2469	INHERITED FROM: Short middle phalanx of toe || Abnormality of the tarsal bones || Abnormality of the middle phalanges of the toes || Cloverleaf skull || Elbow ankylosis
50729,50729 50729 - PH domain-like 50729 - PH domain-like	0.2747	INHERITED FROM: Interphalangeal joint contracture of finger || Camptodactyly of finger
57184,57196 57184 - Growth factor receptor domain 57196 - EGF/Laminin	0.3522	INHERITED FROM: Joint hyperflexibility || Osteoarthritis
50978,50978 50978 - WD40 repeat-like 50978 - WD40 repeat-like	0.3585	INHERITED FROM: Aplasia/Hypoplasia of the ribs || Thoracic hypoplasia || Short ribs || Narrow chest
63712,90112 63712 - Nicotinic receptor ligand binding domain-like 90112 - Neurotransmitter-gated ion-channel transmembrane pore	0.6033	INHERITED FROM: Thoracic scoliosis || Multiple pterygia || Thoracic kyphoscoliosis || Abnormality of the thoracic spine || Pterygium || Abnormal cervical curvature
47895,52540 47895 - Transducin (alpha subunit), insertion domain 52540 - P-loop containing nucleoside triphosphate hydrolases	0.723	INHERITED FROM: Cerebral calcification
49313,49313 49313 - Cadherin-like 49313 - Cadherin-like	0.857	INHERITED FROM: Hypoplasia of the maxilla

Supra-domain (Triple) in N- to C-terminal order

Highlighted in gray are those with FDR>0.001

Supra-domain (Triple) in N- to C-terminal order	FDR (all)	Annotation (direct or inherited)
57184,57581,57184 57184 - Growth factor receptor domain 57581 - TB module/8-cys domain 57184 - Growth factor receptor domain	0	DIRECT
48726,49265,48726 48726 - Immunoglobulin 49265 - Fibronectin type III 48726 - Immunoglobulin	0	DIRECT
57581,57196,57581 57581 - TB module/8-cys domain 57196 - EGF/Laminin 57581 - TB module/8-cys domain	0	DIRECT
57184,57184,57184 57184 - Growth factor receptor domain 57184 - Growth factor receptor domain 57184 - Growth factor receptor domain	0	DIRECT
49899,49899,57196 49899 - Concanavalin A-like lectins/glucanases 49899 - Concanavalin A-like lectins/glucanases 57196 - EGF/Laminin	0	DIRECT
141072,141072,141072 141072 - CalX-like 141072 - CalX-like 141072 - CalX-like	0	DIRECT
57581,57184,57581 57581 - TB module/8-cys domain 57184 - Growth factor receptor domain 57581 - TB module/8-cys domain	0	DIRECT
81995,81811,82754 81995 - beta-sandwich domain of Sec23/24 81811 - Helical domain of Sec23/24 82754 - C-terminal, gelsolin-like domain of Sec23/24	0	DIRECT
63825,57196,63825 63825 - YWTD domain 57196 - EGF/Laminin 63825 - YWTD domain	0	DIRECT
101912,103575,48726 101912 - Sema domain 103575 - Plexin repeat 48726 - Immunoglobulin	0	DIRECT
57581,57196,57196 57581 - TB module/8-cys domain 57196 - EGF/Laminin 57196 - EGF/Laminin	0	DIRECT
57196,57581,57196 57196 - EGF/Laminin 57581 - TB module/8-cys domain 57196 - EGF/Laminin	0	DIRECT
57184,57184,57581 57184 - Growth factor receptor domain 57184 - Growth factor receptor domain 57581 - TB module/8-cys domain	0	DIRECT
57196,57196,90193 57196 - EGF/Laminin 57196 - EGF/Laminin 90193 - Notch domain	0	DIRECT
53300,81995,81811 53300 - vWA-like 81995 - beta-sandwich domain of Sec23/24 81811 - Helical domain of Sec23/24	0	DIRECT
57184,57196,57184 57184 - Growth factor receptor domain 57196 - EGF/Laminin 57184 - Growth factor receptor domain	0	DIRECT
50156,50044,52540 50156 - PDZ domain-like 50044 - SH3-domain 52540 - P-loop containing nucleoside triphosphate hydrolases	0	DIRECT
52540,50447,50465 52540 - P-loop containing nucleoside triphosphate hydrolases 50447 - Translation proteins 50465 - EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain	0	DIRECT
57196,57196,57581 57196 - EGF/Laminin 57196 - EGF/Laminin 57581 - TB module/8-cys domain	0	DIRECT
57196,57184,57184 57196 - EGF/Laminin 57184 - Growth factor receptor domain 57184 - Growth factor receptor domain	0	DIRECT
57184,57184,57196 57184 - Growth factor receptor domain 57184 - Growth factor receptor domain 57196 - EGF/Laminin	0	DIRECT
57196,57581,57184 57196 - EGF/Laminin 57581 - TB module/8-cys domain 57184 - Growth factor receptor domain	0	DIRECT
57184,57581,57196 57184 - Growth factor receptor domain 57581 - TB module/8-cys domain 57196 - EGF/Laminin	0	DIRECT
57196,57196,57184 57196 - EGF/Laminin 57196 - EGF/Laminin 57184 - Growth factor receptor domain	0.01853	INHERITED FROM: Short finger || Encephalocele || Abnormal vertebral morphology || Abnormality of calvarial morphology || Brachydactyly || Absent toe || Short phalanx of finger || Abnormality of limb bone morphology || Abnormal form of the vertebral bodies
52540,52540,52540 52540 - P-loop containing nucleoside triphosphate hydrolases 52540 - P-loop containing nucleoside triphosphate hydrolases 52540 - P-loop containing nucleoside triphosphate hydrolases	0.05672	INHERITED FROM: Sinusitis || Chronic sinusitis || Clubbing of fingers || Abnormal fingertip morphology || Clubbing
54160,54160,52540 54160 - Chromo domain-like 54160 - Chromo domain-like 52540 - P-loop containing nucleoside triphosphate hydrolases	0.1178	INHERITED FROM: Macrocephaly
54160,52540,52540 54160 - Chromo domain-like 52540 - P-loop containing nucleoside triphosphate hydrolases 52540 - P-loop containing nucleoside triphosphate hydrolases	0.1178	INHERITED FROM: Macrocephaly
81296,81296,81296 81296 - E set domains 81296 - E set domains 81296 - E set domains	0.1178	INHERITED FROM: Abnormality of fibula morphology || Aplasia/Hypoplasia involving the metacarpal bones || Abnormality of the radius || Abnormality of forearm bone || Abnormality of the ulna || Short long bone || Abnormal metacarpal morphology || Aplasia/Hypoplasia of the fibula
82199,57667,57667 82199 - SET domain 57667 - beta-beta-alpha zinc fingers 57667 - beta-beta-alpha zinc fingers	0.2385	INHERITED FROM: Abnormality of the hip bone || Hip dysplasia
46966,46966,46966 46966 - Spectrin repeat 46966 - Spectrin repeat 46966 - Spectrin repeat	0.2877	INHERITED FROM: Contractures of the joints of the lower limbs || Abnormality of the Achilles tendon || Contractures involving the joints of the feet || Achilles tendon contracture || Decreased cervical spine flexion due to contractures of posterior cervical muscles
82895,82895,82895 82895 - TSP-1 type 1 repeat 82895 - TSP-1 type 1 repeat 82895 - TSP-1 type 1 repeat	0.3522	INHERITED FROM: Joint stiffness
48726,48726,48726 48726 - Immunoglobulin 48726 - Immunoglobulin 48726 - Immunoglobulin	0.3552	INHERITED FROM: Short middle phalanx of toe || Abnormality of the tarsal bones || Abnormality of the middle phalanges of the toes || Cloverleaf skull || Elbow ankylosis || Rocker bottom foot
57184,57196,57196 57184 - Growth factor receptor domain 57196 - EGF/Laminin 57196 - EGF/Laminin	0.4435	INHERITED FROM: Dolichocephaly
49313,49313,49313 49313 - Cadherin-like 49313 - Cadherin-like 49313 - Cadherin-like	0.857	INHERITED FROM: Hypoplasia of the maxilla